rs3737964
This variant is located in the CLCN6 gene.
▶Research that mentions this SNP (4)
▶The rs3737964 single‐nucleotide polymorphism of the chloride channel‐6 gene as a risk factor for coronary heart diseaseAssociationN=2,393Li Zhang et al.(2015)· Molecular Genetics & Genomic Medicine
This case-control study of 1,193 CHD patients and 1,200 controls in a Chinese population found that the rs3737964 SNP in the chloride channel-6 (CLC-6) gene is associated with coronary heart disease (CHD). The TT genotype showed significantly increased risk (OR=2.32, 95% CI: 1.17-4.06, P=0.016), with even stronger association in smokers (OR=3.19, P=0.043) and individuals over 60 years old or males.
▶Folate pathway and nonsyndromic cleft lip and palateAssociationN=445Susan H. Blanton et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This family-based association study examined 14 folate pathway genes using 89 SNPs in 445 NSCLP families (317 non-Hispanic White, 128 Hispanic) to identify genetic variants contributing to nonsyndromic cleft lip and palate. Evidence for association was found with SNPs in NOS3 and TYMS in the non-Hispanic White group (rs2373929/NOS3, rs502396/TYMS, and others), and with MTR, BHMT2, MTHFS, and SLC19A1 in the Hispanic group (rs1422086/BHMT2, rs2115540/MTHFS significant after Bonferroni correction). Multiple gene-gene interactions were detected, with CBS and MTHFD1 showing the most extensive interactions. Significant interactions were also found between several SNPs and maternal smoking and one SNP (rs651646/FOLR2) with offspring sex.
▶Oral facial clefts and gene polymorphisms in metabolism of folate/one‐carbon and vitamin A: a pathway‐wide association studyAssociationN=425Abee L. Boyles et al.(2009)· Genetic Epidemiology
A pathway-wide association study in 425 case-parent triads examined 109 SNPs in 29 folate/one-carbon metabolism genes and 68 SNPs in 16 vitamin A metabolism genes for associations with cleft lip/palate (CL/P) and cleft palate only (CPO). Despite strong epidemiologic evidence that folic acid and vitamin A reduce cleft risk, no convincing genetic associations were found; the strongest association was FOLH1 with CPO (p=0.0008), but findings were fewer than expected by chance and inconsistent with protective effects of vitamin supplementation, suggesting vitamin metabolism gene polymorphisms do not play an etiologic role in oral facial clefts.
▶The MTHFR gene polymorphism is associated with lean body mass but not fat body massAssociationN=1,873Xiaogang Liu et al.(2008)· Human Genetics
This candidate gene association study examined five SNPs in the MTHFR gene in 405 Caucasian nuclear families (1,873 individuals) and found significant associations between MTHFR polymorphisms and lean body mass (LBM). rs2066470 (P = 0.0006), rs4846048 (P = 0.0007), and rs3737964 (P = 0.004) were associated with LBM, with rs2066470 explaining 3.67% of LBM variation. BMI associations with rs4846048 (P = 0.009) were mediated through LBM. No associations were found with fat body mass.
About CLCN6
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
View all CLCN6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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