rs112493246
This is a intron variant variant in the DYSF gene.
▶Research that mentions this SNP (1)
▶Genetic polymorphisms associated with pancreatic cancer survival: a genome‐wide association studyAssociationN=1,688Hongwei Tang et al.(2017)· International Journal of Cancer
A genome-wide association study (GWAS) of pancreatic cancer survival identified three intronic SNPs in complete linkage disequilibrium (rs113988120 in PAIP2B, rs112493246 and rs138529893 in DYSF) on chromosome 2 that were significantly associated with shorter overall survival (HR=3.06, 95% CI=2.10-4.47, P=6.4×10⁻⁹). The top hit rs113988120 was validated in a replication cohort (HR=1.57, P=0.008) and confirmed in combined analysis (HR=1.86, P=4.6×10⁻⁷). Gene expression analysis showed PAIP2B mRNA was significantly downregulated in pancreatic tumors compared to normal tissue, supporting a potential tumor suppressor role.
About DYSF
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
View all DYSF variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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