rs5030952
This is a downstream gene variant variant in the CAPN10 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Meta-analysis of the association between four CAPN10 gene variants and gestational diabetes mellitusMeta-analysisN=2,791Junhao Cui et al.(2016)· Archives of Gynecology and Obstetrics
Meta-analysis of five studies (1003 GDM cases, 1788 controls) examining the association between CAPN10 gene polymorphisms and gestational diabetes mellitus. SNP 19 and SNP 43 showed no association with GDM across genetic models. SNP 63 (rs5030952) was significantly associated with increased GDM risk in the heterozygous model (OR 2.79, 95% CI 1.15–6.74). SNP 44 was associated with increased GDM risk in the recessive model (OR 1.75, 95% CI 1.07–2.85, but limited to two studies).
About CAPN10
Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
View all CAPN10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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