BMC Medical Genetics - Latest articles via MedWorm.com

Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study

BMC Medical Genetics - Latest articles — Mon, 30 Jan 2012 05:00:00 +0100

Conclusions: Significant heritabilities were observed in smoking phenotypes for both males and females from the Brazilian population. These data add to the literature and are concordant with the notion of significant biological determination in smoking behavior. Samples from the Baependi Heart Study may be valuable for the mapping of genetic loci that modulate this complex biological trait. (Source: BMC Medical Genetics - Latest articles)

Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis

BMC Medical Genetics - Latest articles — Fri, 27 Jan 2012 05:00:00 +0100

Conclusion: Our approach is a useful tool for finding allele combinations associated with diseases beyond single SNP analysis in chromosomal candidate regions. (Source: BMC Medical Genetics - Latest articles)

Data mining of high density genomic variant data for prediction of Alzheimer's disease risk.

BMC Medical Genetics - Latest articles — Wed, 25 Jan 2012 05:00:00 +0100

Conclusions: With the two proposed approaches, we identified a large subset of SNPs in genes mostly clustered around specific pathways/functions and a smaller set of SNPs, within or in proximity to five genes not previously reported, that may be relevant for the prediction/understanding of AD. (Source: BMC Medical Genetics - Latest articles)

The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population

BMC Medical Genetics - Latest articles — Tue, 17 Jan 2012 05:00:00 +0100

Conclusions: Our results indicate that the C allele of JAK2 rs4495487, in addition to the 46/1 haplotype, contributes significantly to the occurrence of JAK2 V617F-positive and JAK2 V617F-negative MPNs in the Japanese population. Because lack of the GCC genotype represents a distinct clinical-hematological subset of MPN, analyzing JAK2 SNPs and quantifying JAK2 V617F mutations will provide further insights into the molecular pathogenesis of MPN. (Source: BMC Medical Genetics - Latest articles)

A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians

BMC Medical Genetics - Latest articles — Fri, 13 Jan 2012 05:00:00 +0100

Conclusions: Mechanisms of immune defense suggested by some of the identified genes exhibit biological plausibility and may suggest novel pathways involved in the host containment of infection with TB. (Source: BMC Medical Genetics - Latest articles)

Isolated brachydactyly type E can be caused by a HOXD13 nonsense mutation: a case report

BMC Medical Genetics - Latest articles — Tue, 10 Jan 2012 05:00:00 +0100

Conclusion: The variant p.R274X identified in our proband is the fourth HOXD13 mutation, and the second truncating (nonsense) mutation, reported to result in typical isolated BDE. We refer our clinical and molecular findings to the previously described HOXD13 associated phenotypes and mutations. (Source: BMC Medical Genetics - Latest articles)

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

BMC Medical Genetics - Latest articles — Fri, 06 Jan 2012 05:00:00 +0100

Conclusion: This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients. (Source: BMC Medical Genetics - Latest articles)

Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients

BMC Medical Genetics - Latest articles — Wed, 04 Jan 2012 05:00:00 +0100

Conclusions: These preliminary findings suggest that EMID2_BL1_ht2 may be a susceptibility marker of inflammation of the nasal passages among Korean asthma patients. (Source: BMC Medical Genetics - Latest articles)

Association of polymorphisms in survivin gene with the risk of hepatocellular carcinoma in Chinese han population: a case control study

BMC Medical Genetics - Latest articles — Tue, 03 Jan 2012 05:00:00 +0100

Conclusions: No association between rs8073069, rs9904341 or rs1042489 in survivin gene and the risk of HCC is found in Chinese han population, but rs8073069G-rs9904341C- rs1042489T is perhaps a protective haplotype for HCC. (Source: BMC Medical Genetics - Latest articles)

Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads

BMC Medical Genetics - Latest articles — Fri, 30 Dec 2011 05:00:00 +0100

Conclusion: This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous PTD. In addition, the pathway analysis implied interactions of genes affecting cell communication and extracellular matrix. (Source: BMC Medical Genetics - Latest articles)

The role of ALOX5AP, LTA4H and LTB4R polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers

BMC Medical Genetics - Latest articles — Thu, 29 Dec 2011 05:00:00 +0100

Conclusions: These data suggest that polymorphisms spanning ALOX5AP, LTA4H and the LTB4R locus are not major determinants of baseline lung function in smokers, but provide tentative evidence for LTA4H rs1978331C (intron 11) in determining baseline FEV1 and FEV1/FVC ratio in Caucasian Smokers in addition to our previously identified role in asthma susceptibility. (Source: BMC Medical Genetics - Latest articles)

Targeted next-generation sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

BMC Medical Genetics - Latest articles — Wed, 28 Dec 2011 05:00:00 +0100

Conclusions: Our results demonstrated the power of next-generation sequencing with pooled sample groups for the rapid screening of candidate genes for A/M as we were correctly able to identify disease-causing mutations. However, next-generation sequencing was less useful for small, intragenic deletions and duplications. We did not find mutations in 10/15 patients and conclude that there is a need for further gene discovery in A/M. (Source: BMC Medical Genetics - Latest articles)

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

BMC Medical Genetics - Latest articles — Wed, 21 Dec 2011 05:00:00 +0100

Conclusions: CTDs, especially pulmonary atresia with ventricular septal defect and tetralogy of Fallot, are the most common disorders associated with the 22q11.2 deletion syndrome. Those patients with both CTDs and 22q11.2 deletion generally have a typical or atypical deletion region within the TBX1 gene. Our results indicate that TBX1 genetic variants may be associated with CTDs. (Source: BMC Medical Genetics - Latest articles)

Genome-wide association study identifies PERLD1 as asthma candidate gene

BMC Medical Genetics - Latest articles — Wed, 21 Dec 2011 05:00:00 +0100

Conclusions: These findings reveal the association of a PERLD1 as a novel asthma candidate gene and reinforce the involvement of genes on the 17q12-21 chromosomal region in the etiology of asthma. (Source: BMC Medical Genetics - Latest articles)

Mechanisms of ring chromosome formation, ring instability and clinical consequences.

BMC Medical Genetics - Latest articles — Wed, 21 Dec 2011 05:00:00 +0100

Conclusions: We concluded that the clinical phenotype of patients with ring chromosomes may be related with different factors, including gene haploinsufficiency, gene duplications and ring instability. Epigenetic factors due to the circular architecture of ring chromosomes must also be considered, since even complete ring chromosomes can result in phenotypic alterations, as observed in our patients with complete r(14) and r(22). (Source: BMC Medical Genetics - Latest articles)

Identification of Novel Mutations in Chinese Hans with Autosomal Dominant Polycystic Kidney Disease

BMC Medical Genetics - Latest articles — Tue, 20 Dec 2011 05:00:00 +0100

Conclusions: Mutation study of PKD1 and PKD2 genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease. (Source: BMC Medical Genetics - Latest articles)

A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture

BMC Medical Genetics - Latest articles — Tue, 20 Dec 2011 05:00:00 +0100

Conclusions: In a cohort of 1,022 elderly Western Australian women, the presence of Arg264Cys (rs700519) polymorphism was not found to be associated with serum estradiol, bone structure or phenotypes. (Source: BMC Medical Genetics - Latest articles)

Association of common variants in JAK2 gene with reduced risk of Metabolic Syndrome and related disorders

BMC Medical Genetics - Latest articles — Tue, 20 Dec 2011 05:00:00 +0100

Conclusions: It was found for the first time, significant associations of JAK2 common variants and related haplotypes with reduced risk of MS. These findings could be explained by the role of JAK2 in insulin and/or leptin signaling. (Source: BMC Medical Genetics - Latest articles)

Association Analysis Identifies ZNF750 Regulatory Variants in Psoriasis

BMC Medical Genetics - Latest articles — Tue, 20 Dec 2011 05:00:00 +0100

We examined whether ZNF750 variants were associated with psoriasis in a large case-control population. We sequenced the promoter and exon regions of ZNF750 in 716 Caucasian psoriasis cases and 397 Caucasian controls. Results: We identified a total of 47 variants, including 38 rare variants of which 35 were novel. Association testing identified two ZNF750 haplotypes associated with psoriasis (p (Source: BMC Medical Genetics - Latest articles)

Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density

BMC Medical Genetics - Latest articles — Tue, 20 Dec 2011 05:00:00 +0100

Conclusions: Our study provides the first evaluation of the relationship between SNPs of the OPG/RANK system and sporadic PHPT. Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. (Source: BMC Medical Genetics - Latest articles)

Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

BMC Medical Genetics - Latest articles — Mon, 19 Dec 2011 05:00:00 +0100

Conclusions: The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis. (Source: BMC Medical Genetics - Latest articles)

Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India

BMC Medical Genetics - Latest articles — Thu, 15 Dec 2011 05:00:00 +0100

Conclusions: This well-powered primary and replication genetic study, together with functional analysis of gene expression, implicate CXCR2 in determining outcome of VL in India. (Source: BMC Medical Genetics - Latest articles)

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients

BMC Medical Genetics - Latest articles — Wed, 14 Dec 2011 05:00:00 +0100

Conclusion: We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy. (Source: BMC Medical Genetics - Latest articles)

The insertion/deletion (I/D) polymorphism in the Angiotensin-converting enzyme gene and cancer risk: A meta-analysis

BMC Medical Genetics - Latest articles — Mon, 12 Dec 2011 05:00:00 +0100

Conclusions: This meta-analysis suggested that the ACE D/I polymorphism might not contribute to the risk of cancer. (Source: BMC Medical Genetics - Latest articles)

Antagonistic pleiotropy as a widespread mechanism for the maintenance of polymorphic disease alleles.

BMC Medical Genetics - Latest articles — Mon, 12 Dec 2011 05:00:00 +0100

Conclusion: We believe that our identification of several cases of antagonistic pleiotropy, despite the lack of research on this question and the varied natures of the types of these disorders, speaks to both the underappreciated nature of this phenomenon and its potentially fundamental importance. If antagonistic pleiotropy is as common as our research suggests, this may explain why so many serious diseases, even apparently environmentally caused ones, have a genetic component. Furthermore, acceptance of a genome full of antagonistically pleiotropic genetic interactions poses important implications for clinical treatment and disease prevention research, especially genetically based therapies. (Source: BMC Medical Genetics - Latest articles)

Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1

BMC Medical Genetics - Latest articles — Thu, 08 Dec 2011 05:00:00 +0100

Conclusion: Our findings suggest that protective effects of endotoxin exposure on asthma may vary depending upon the presence or absence of a polymorphism in ACAA1. (Source: BMC Medical Genetics - Latest articles)

SERPINE2 haplotype as a risk factor for panlobular type of emphysema

BMC Medical Genetics - Latest articles — Wed, 07 Dec 2011 05:00:00 +0100

Conclusions: Our results support the previously found association between SERPINE2 polymorphisms and pulmonary emphysema. As a novel finding, our study suggests that the SERPINE2 gene may in particular be involved in the development of panlobular changes, i.e., the same type of changes that are involved in alpha-1-antitrypsin (AAT) -deficiency. (Source: BMC Medical Genetics - Latest articles)

Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development

BMC Medical Genetics - Latest articles — Mon, 05 Dec 2011 05:00:00 +0100

Conclusions: Further research in this area is warranted as these results demonstrate that the chromosomal region 8q24 may contain a locus that influences general cancer susceptibility between 120,576 and 120,630 kb. (Source: BMC Medical Genetics - Latest articles)

Heritability of physical activity traits in Brazilian families: the Baependi Heart Study

BMC Medical Genetics - Latest articles — Tue, 29 Nov 2011 05:00:00 +0100

Conclusions: Heritability estimates for physical activity phenotypes in this sample of the Brazilian population were significant in both males and females, and varied from low to intermediate magnitude. Significant evidence for heterogeneity in variance components by gender was observed. These data add to the knowledge of the physical activity traits in the Brazilian study population, and are concordant with the notion of significant biological determination in active behavior. (Source: BMC Medical Genetics - Latest articles)

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

BMC Medical Genetics - Latest articles — Fri, 25 Nov 2011 05:00:00 +0100

Conclusion: We found a statistically significant increase in the frequency of CNVs known or likely to be associated with schizophrenia in individuals with both schizophrenia and epilepsy compared to controls. We found an overall 5.1% detection rate of likely pathological findings which is the highest frequency of such findings in a series of schizophrenia patients to date. This evidence suggests that the frequency of disease-associated CNVs in patients with both schizophrenia and epilepsy is significantly higher than for unselected schizophrenia. (Source: BMC Medical Genetics - Latest articles)

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

BMC Medical Genetics - Latest articles — Tue, 22 Nov 2011 05:00:00 +0100

Conclusions: Our study demonstrates that FKBP10 mutations not only cause Bruck syndrome or Osteogenesis imperfecta type III but can result in a severe type of isolated Osteogenesis imperfecta type IV with prenatal onset. Furthermore, it adds dentinogenesis imperfecta to the spectrum of clinical symptoms associated with FKBP10 mutations. (Source: BMC Medical Genetics - Latest articles)

Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

BMC Medical Genetics - Latest articles — Tue, 22 Nov 2011 05:00:00 +0100

Conclusion: Our results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults. (Source: BMC Medical Genetics - Latest articles)

Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study

BMC Medical Genetics - Latest articles — Mon, 21 Nov 2011 05:00:00 +0100

Conclusions: No single gene was associated with all three phenotypes, and the set of the most statistically significant SNPs predictive of homocysteine or Alu or LINE-1 methylation was unique to each phenotype. Genetic variation in folate-mediated one-carbon metabolism, other than the well-known effects of the MTHFR c.665C>T (known as c.677 C>T, rs1801133, p.Ala222Val), is predictive of cardiovascular disease biomarkers. (Source: BMC Medical Genetics - Latest articles)

Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts

BMC Medical Genetics - Latest articles — Thu, 17 Nov 2011 05:00:00 +0100

Conclusions: We were not able to replicate the effect of rs9514089 on gallstone risk in the Sorbs. Further analyses in larger cohorts are required to finally assess the role of genetic variants in SLC10A2 in human gallstone development and lipid metabolism. (Source: BMC Medical Genetics - Latest articles)

Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study

BMC Medical Genetics - Latest articles — Tue, 01 Nov 2011 04:00:00 +0100

Background: Ectopic fat accumulation in the renal sinus is associated with chronic kidney disease and hypertension. The genetic contributions to renal sinus fat accumulation in humans have not been well characterized. Methods: The present analysis consists of participants from the Framingham Offspring and Third Generation who underwent computed tomography; renal sinus fat and visceral adipose tissue (VAT) were quantified. Renal sinus fat was natural log transformed and sex- and cohort-specific residuals were created, adjusted for (1) age, (2) age and body mass index (BMI), and (3) age and VAT. Residuals were pooled and used to calculate heritability using variance-components analysis in SOLAR. A genome-wide association study (GWAS) for renal sinus fat was performed using an additive model ...

Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia

BMC Medical Genetics - Latest articles — Thu, 27 Oct 2011 04:00:00 +0100

Background: Mutations in the high penetrance breast and ovarian cancer susceptibility gene BRCA1 account for a significant percentage of hereditary breast and ovarian cancer cases. Genotype-phenotype correlations of BRCA1 mutations located in different parts of the BRCA1 gene have been described previously; however, phenotypic differences of specific BRCA1 mutations have not yet been fully investigated. In our study, based on the analysis of a population-based series of unselected breast and ovarian cancer cases in Latvia, we show some aspects of the genotype-phenotype correlation among the BRCA1 c.4034delA (4153delA) and c.5266dupC (5382insC) founder mutation carriers. Methods: We investigated the prevalence of the BRCA1 founder mutations c.4034delA and c.5266dupC in a population-based se...

A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia

BMC Medical Genetics - Latest articles — Wed, 26 Oct 2011 04:00:00 +0100

Conclusions: This study provides the first evidence of an association between the NR1H2 gene and preeclampsia, adding to our understanding of the links between cholesterol metabolism and this disease. (Source: BMC Medical Genetics - Latest articles)

Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk

BMC Medical Genetics - Latest articles — Wed, 26 Oct 2011 04:00:00 +0100

Conclusion: The results of this study imply that common SNPs explain a large amount of the variation in the Framingham Risk Score and suggest that future, better-powered genome-wide association studies, possibly informed by knowledge of gene-pathways, will uncover more risk variants that will help to elucidate the genetic architecture of cardiovascular disease. (Source: BMC Medical Genetics - Latest articles)

Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study

BMC Medical Genetics - Latest articles — Tue, 25 Oct 2011 04:00:00 +0100

Conclusions: This study suggests that the minor genotype of IL13 SNP rs20541 and the CA haplotype are significantly positively associated with the risk of rhinoconjunctivitis. In addition, a new pattern of biological interaction that affects the risk of rhinoconjunctivitis is described between SNP rs1800925 and smoking. (Source: BMC Medical Genetics - Latest articles)

The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain

BMC Medical Genetics - Latest articles — Tue, 25 Oct 2011 04:00:00 +0100

Conclusions: These mutation frequencies are higher than in a similarly sized population characterized by Barber and colleagues, but still too low to account for a major role played by the EGFR gene in CRC. (Source: BMC Medical Genetics - Latest articles)

IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

BMC Medical Genetics - Latest articles — Fri, 21 Oct 2011 04:00:00 +0100

Conclusions: Our findings suggest that the IL13 SNP rs1800925 is significantly associated with eczema in Japanese young adult women. We could not find evidence for an interaction between SNP rs1800925 and smoking with regard to eczema. (Source: BMC Medical Genetics - Latest articles)

Serotonin receptor 3A polymorphism c.-42C>T is associated with severe dyspepsia

BMC Medical Genetics - Latest articles — Thu, 20 Oct 2011 04:00:00 +0100

Conclusions: The HTR3A c.-42T allele is associated with severe dyspeptic symptoms. The stronger association among patients carrying the 5-HTTLPR L allele suggests an additive effect of the two polymorphisms. These results support the hypothesis that diminished 5-HT3 mediated antinociception predisposes to increased visceral sensitivity of the gastrointestinal tract. Moreover, the HTR3A c.-42C > T and 5-HTTLPR polymorphisms likely represent predisposing genetic variants in common to psychiatric morbidity and dyspepsia. (Source: BMC Medical Genetics - Latest articles)

Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching.

BMC Medical Genetics - Latest articles — Thu, 20 Oct 2011 04:00:00 +0100

Conclusion: This raises the possibility that mismatched AOs could still be therapeutically applicable in some cases, negating the necessity to produce patient-specific compounds. (Source: BMC Medical Genetics - Latest articles)

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

BMC Medical Genetics - Latest articles — Thu, 13 Oct 2011 04:00:00 +0100

Conclusions: A gender effect exists on both the transmission and distribution of rare coding and common HSCR causing mutations. In addition, these RET CVs and RVs seem to act in a synergistic way leading to HSCR phenotype. (Source: BMC Medical Genetics - Latest articles)

Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study

BMC Medical Genetics - Latest articles — Thu, 13 Oct 2011 04:00:00 +0100

Conclusions: This replication study supports an important role for the studied rs5771069 (IL17REL) SNP, but not for rs7809799 (SMURF1/KPNA7), in UC etiology in the Danish, Baltic, and Norwegian populations. Significant genetic heterogeneity was suggested for rs7520292, rs12518307, and rs2395609 (TCP11) in UC etiology between the Nordic and the other European populations. (Source: BMC Medical Genetics - Latest articles)

SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group

BMC Medical Genetics - Latest articles — Wed, 12 Oct 2011 04:00:00 +0100

Background: Recent studies reported the association between SLCO1B1 polymorphisms and the development of statin-induced myopathy. In the scenario of the Brazilian population, being one of the most heterogeneous in the world, the main aim here was to evaluate SLCO1B1 polymorphisms according to ethnic groups as an initial step for future pharmacogenetic studies. Methods: One hundred and eighty-two Amerindians plus 1,032 subjects from the general urban population were included. Genotypes for the SLCO1B1 rs4149056 (c.T521C, p.V174A, exon 5) and SLCO1B1 rs4363657 (g.T89595C, intron 11) polymorphisms were detected by polymerase chain reaction followed by high resolution melting analysis with the Rotor Gene 6000(R) instrument. Results: The frequencies of the SLCO1B1 rs4149056 and rs4363657 C vari...

Pharmacogenetic analysis of the effects of polymorphisms in APOE, IDE and IL1B on a ketone body based therapeutic on cognition in mild to moderate Alzheimer's disease; a randomized, double-blind, placebo-controlled study

BMC Medical Genetics - Latest articles — Wed, 12 Oct 2011 04:00:00 +0100

Conclusions: Variants in APOE, IL1B and IDE may influence the cognitive response to induced ketosis in patients with mild to moderate AD. This trial was registered with ClinicalTrials.gov, registry number NCT00142805. (Source: BMC Medical Genetics - Latest articles)

Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population

BMC Medical Genetics - Latest articles — Tue, 11 Oct 2011 04:00:00 +0100

In this study, we aimed to evaluate the association of polymorphisms in ORMDL3, GSDMB, ZPBP2 and IKZF3 and adult-onset asthma in a Chinese Han population. Methods: We genotyped 5 single nucleotide polymorphisms (SNPs) at chromosome 17q21 in 1,366 Han Chinese people comprising 710 patients with adult-onset asthma and 656 healthy controls. We compared the 2 groups in terms of allele and haplotype frequencies. Transcript levels were measured in leukocytes from 61 asthma patients by quantitative real-time PCR. Results: We found the 5 SNPs significantly associated with asthma (P (Source: BMC Medical Genetics - Latest articles)

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

BMC Medical Genetics - Latest articles — Tue, 11 Oct 2011 04:00:00 +0100

Conclusion: This finding supports the large genomic rearrangement screening of BRCA genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations. (Source: BMC Medical Genetics - Latest articles)

TNFA -863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study

BMC Medical Genetics - Latest articles — Mon, 10 Oct 2011 04:00:00 +0100

Conclusions: We replicated the previously reported association between the TNFA -863 SNP and COPD. TNFA -863A allele may confer a protective effect to the susceptibility to the disease in the Spanish population. (Source: BMC Medical Genetics - Latest articles)

Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

BMC Medical Genetics - Latest articles — Thu, 06 Oct 2011 04:00:00 +0100

Conclusion With the GWAS in the PROSPER/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels. With this proof-of-principle study we show that the PROSPER/PHASE study can be used to investigate genetic associations in a similar way to population based studies. The next step of the PROSPER/PHASE study is to identify the genetic variation responsible for the variation in LDL-cholesterol lowering in response to statin treatment in collaboration with other large trials. (Source: BMC Medical Genetics - Latest articles)

Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

BMC Medical Genetics - Latest articles — Mon, 03 Oct 2011 04:00:00 +0100

Conclusions: This is the first experimental demonstration that a 5'-UTR mutation can prevent translation of ENG among HHT patients, and further supports the previous notion that haploinsufficiency is the primary mechanism of HHT1. Our data also underscore the importance of including exons encoding 5' UTR for HHT mutation screening. (Source: BMC Medical Genetics - Latest articles)

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

BMC Medical Genetics - Latest articles — Fri, 30 Sep 2011 04:00:00 +0100

Conclusion: Large deletions are a possible mechanism for loss of function of the MUTYH gene, and investigation of such mutations may be important in identifying causative mutations in MAP patients. (Source: BMC Medical Genetics - Latest articles)

Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus

BMC Medical Genetics - Latest articles — Fri, 30 Sep 2011 04:00:00 +0100

Background: Oxidative stress is recognized as a major pathogenic factor of cellular damage caused by hyperglycemia. NOX/NADPH oxidases generate reactive oxygen species and NOX1, NOX2 and NOX4 isoforms are expressed in kidney and require association with subunit p22phox (encoded by the CYBA gene). Increased expression of p22phox was described in animal models of diabetic nephropathy. In the opposite direction, glutathione is one of the main endogenous antioxidants whose plasmatic concentrations were reported to be reduced in diabetes patients. The aim of the present investigation was to test whether functional single nucleotide polymorphisms (SNPs) in genes involved in the generation of NADPH-dependent O2.- (-675 T/A in CYBA, unregistered) and in glutathione metabolism (-129 C/T in GCLC [rs...

Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

BMC Medical Genetics - Latest articles — Thu, 29 Sep 2011 04:00:00 +0100

Conclusions: We found no support for the hypothesis that the GWAS-identified variants in this study substantially alter the probability of post-ACS survival. Large-scale, collaborative, genome-wide studies may be required in order to detect genetic variants that are robustly associated with survival in patients with coronary artery disease. (Source: BMC Medical Genetics - Latest articles)

Association of C1QB gene polymorphism with schizophrenia in Armenian population

BMC Medical Genetics - Latest articles — Wed, 28 Sep 2011 04:00:00 +0100

Conclusions: The results obtained suggest that C1QB gene may be considered as a relevant candidate gene for susceptibility to schizophrenia, and its rs291982*G minor allele might represent a risk factor for schizophrenia at least in Armenian population. Replication in other centers/populations is necessary to verify this conclusion. (Source: BMC Medical Genetics - Latest articles)

Novel mutations of the TCOF1 gene in European patients with Treacher Collins syndrome

BMC Medical Genetics - Latest articles — Tue, 27 Sep 2011 04:00:00 +0100

Conclusion: This study confirms that almost all the TCOF1 pathogenic mutations fall in the coding region and lead to an aberrant protein. (Source: BMC Medical Genetics - Latest articles)

Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM)

BMC Medical Genetics - Latest articles — Mon, 26 Sep 2011 04:00:00 +0100

Conclusion: This study has refined the 19q region of linkage with COME/ROM, and association results suggest that the linkage signal may be due to rare variants. (Source: BMC Medical Genetics - Latest articles)

Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits

BMC Medical Genetics - Latest articles — Sat, 24 Sep 2011 04:00:00 +0100

Conclusions We identified three possible loci that may affect multiple traits and validated 17 previously-reported loci. Our study demonstrated the usefulness of examining multiple phenotypes jointly and highlights an anomalous effect on CRP, which is increasingly recognised as a marker of cardiovascular risk as well as of inflammation. (Source: BMC Medical Genetics - Latest articles)

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BMC Medical Genetics - Latest articles — Fri, 23 Sep 2011 04:00:00 +0100

Conclusions: Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner. This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation. This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated. (Source: BMC Medical Genetics - Latest articles)

Antiretroviral treatment-induced dyslipidemia in HIV-infected patients is influenced by the APOC3-related rs10892151 polymorphism

BMC Medical Genetics - Latest articles — Thu, 22 Sep 2011 04:00:00 +0100

Conclusions: The A allelic variant of the rs10892151 polymorphism is not associated with serum apo C-III concentration, but predisposes HIV-infected patients to less favorable lipid profile, particularly in those patients treated with PIs. (Source: BMC Medical Genetics - Latest articles)

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

BMC Medical Genetics - Latest articles — Thu, 22 Sep 2011 04:00:00 +0100

Conclusion: This paper highlights that large rearrangements and total deletion of exon 3 in the BRCA2 gene could contribute to hereditary breast and/or ovarian cancer. In addition, our findings suggest that, to interpret the pathogenic effect of any variants of exon 3, both accurate transcript quantification and co-segregation analysis are required. (Source: BMC Medical Genetics - Latest articles)

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

BMC Medical Genetics - Latest articles — Wed, 21 Sep 2011 04:00:00 +0100

Conclusions: Our findings expand the number of large FBN1 deletions, and emphasize the importance of screening for large genomic deletions in connective tissue disorders featuring aortopathies, especially for those with classic Marfan phenotype. (Source: BMC Medical Genetics - Latest articles)

Association of HLA-B*5801 Allele and Allopurinol-Induced Stevens Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review and Meta-analysis

BMC Medical Genetics - Latest articles — Fri, 09 Sep 2011 04:00:00 +0100

This study aims to systematically review and meta-analyze the association between HLA-B*5801 allele and allopurinol-induced SJS/TEN. Methods: A comprehensive search was performed in databases including MEDLINE, Pre-MEDLINE, Cochrane Library, EMBASE, International Pharmaceutical Abstracts (IPA), CINAHL, PsychInfo, the WHO International, Clinical Trial Registry, and ClinicalTrial.gov from their inceptions to June 2011. Only studies investigating association between HLA-B*5801 with allopurinol-induced SJS/TEN were included. All studies were extracted by two independent authors. The primary analysis was the carrier frequency of HLA-B*5801 comparison between allopurinol-induced SJS/TEN cases and each comparative group. The pooled odds ratios were calculated using a random effect model. Results:...

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

BMC Medical Genetics - Latest articles — Thu, 08 Sep 2011 04:00:00 +0100

Conclusions: PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH)2D levels suggesting that the PHEX type of mutation might predict the XLHR phenotype severity. (Source: BMC Medical Genetics - Latest articles)

Effect of Heme Oxygenase-1 Polymorphisms on Lung Function and Gene Expression

BMC Medical Genetics - Latest articles — Thu, 08 Sep 2011 04:00:00 +0100

Conclusions: We found no association of the five HMOX1 tag SNPs with lung function decline and no evidence that the three promoter polymorphisms affected the regulation of the HMOX1 gene. (Source: BMC Medical Genetics - Latest articles)

Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults

BMC Medical Genetics - Latest articles — Wed, 31 Aug 2011 23:00:00 +0100

Conclusion: The strong heritable component of S-COMT promoter methylation found in our study needs to be considered in future approaches that focus on interactions between COMT epigenotype and phenotype. (Source: BMC Medical Genetics - Latest articles)

The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients

BMC Medical Genetics - Latest articles — Tue, 30 Aug 2011 23:00:00 +0100

CONCLUSION: The T allele of the p22-phox C242T polymorphism is associated with higher left ventricular mass/height2.7 and increased NADPH-oxidase activity in Brazilian hypertensive patients. These data suggest that genetic variation within NADPH-oxidase components may modulate left ventricular remodeling in subjects with systemic hypertension. (Source: BMC Medical Genetics - Latest articles)

Lack of association between gene polymorphisms of Angiotensin converting enzyme, Nod-like receptor 1, Toll-like receptor 4, FAS/FASL and the presence of Helicobacter pylori-induced premalignant gastric lesions and gastric cancer in Caucasians.

BMC Medical Genetics - Latest articles — Tue, 23 Aug 2011 23:00:00 +0100

Conclusions ACE, NOD1, TRL4 and FAS/FASL gene polymorphisms are not linked with gastric carcinogenesis in Caucasians, and therefore they should not be considered as potential biomarkers for identifying individuals with higher risk for GC. (Source: BMC Medical Genetics - Latest articles)

Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

BMC Medical Genetics - Latest articles — Wed, 17 Aug 2011 23:00:00 +0100

Conclusions: We have identified two novel CNV associations to ADAM3A and UGT2B28 in AD. The mechanism by which this susceptibility is conferred is at present unclear, but may involve steroid inactivation (UGT2B28) and T cell maturation (ADAM3A). Characterization of these proteins may unravel novel information on the pathogenesis of autoimmunity. (Source: BMC Medical Genetics - Latest articles)

No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin

BMC Medical Genetics - Latest articles — Tue, 16 Aug 2011 23:00:00 +0100

Despite suspicions that variants in the type 2 receptor for TNF-alpha (TNFR2) play a role in type 2 diabetes, a comprehensive study in a north Indian population finds no association of SNPs in this gene and the disease. (Source: BMC Medical Genetics - Latest articles)

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

BMC Medical Genetics - Latest articles — Mon, 15 Aug 2011 23:00:00 +0100