rs3748051
This is a regulatory region variant variant in the CLPS gene.
▶Research that mentions this SNP (1)
▶Rapid analysis of colipase gene variants by multicapillary electrophoresisAssociationN=546Zsuzsanna Jaczó et al.(2015)· ELECTROPHORESIS
This study developed a multiplex PCR-RFLP method combined with multicapillary gel electrophoresis for high-throughput genotyping of 6 SNPs (rs41270082, rs3748051, rs142027015, rs3748048, rs73404011, rs72925892) in the CLPS (colipase) gene. In a case-control association study of type 2 diabetes (225 controls, 321 patients), single marker analysis showed no significant associations, but haplotype analysis revealed the rare GGCCG haplotype of five 5' upstream SNPs was significantly enriched in patients with an odds ratio of 3.64 (p=0.0293), suggesting CLPS gene polymorphisms may be a genetic risk factor for type 2 diabetes mellitus.
About CLPS
The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
View all CLPS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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