rs11134474
This is a intergenic variant variant in the SGCD gene.
▶Research that mentions this SNP (1)
▶Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependenceAssociationN=10,509Dankyu Yoon et al.(2012)· Human Genetics
Large-scale GWAS in an Asian population (8,842 Korean samples) identified genetic factors influencing smoking initiation and nicotine dependence. Discovery stage identified 8 SNPs for smoking initiation and 4 for nicotine dependence. Meta-analysis of discovery and replication cohorts (European-American and African-American families) confirmed associations: rs7747583 and rs2349433 in RGS17 with smoking initiation (p = 6.40 × 10⁻⁶ and 5.57 × 10⁻⁶), and rs4424567 in FRMD4A (p = 2.30 × 10⁻⁶) and rs848353 at 7q31.1 (p = 9.16 × 10⁻⁸) with nicotine dependence.
About SGCD
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
View all SGCD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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