rs244960
This variant is located in the SGCD gene.
▶Research that mentions this SNP (1)
▶A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigreesAssociationN=592Jasinska AJ et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study reports a narrow and highly significant linkage signal for bipolar disorder type I (BP-I) on chromosome 5q33 in Costa Rican and Colombian pedigrees. Fine-mapping with 1,134 SNPs yielded a combined LOD score of 4.9 at rs10035961 (156.9 Mb), with two additional SNPs (rs7721142 and rs1422795) also showing LOD>4 in a 94 kb region. Population-based association analysis identified signals at rs12523547 (P=0.00004) and rs267015 (P=0.00016), though these did not clearly overlap with the linkage peak, suggesting possible allelic or locus heterogeneity.
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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