rs16889462

This variant is located in the SLC30A8 gene.

ClinVar annotation

Benign
1 submitter

SLC30A8-related disorder

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Research that mentions this SNP (1)

Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitus and repaglinide response in Chinese patients
AssociationN=672Qiong Huang et al.(2010)· European Journal of Clinical Pharmacology

This case-control study examined two SLC30A8 polymorphisms in 443 Chinese type 2 diabetes patients and 229 healthy controls. rs13266634 risk C allele was more frequent in T2DM patients (P<0.05). In 48 patients treated with repaglinide, rs13266634 CT+TT genotypes showed better response with reduced fasting (P<0.05) and postprandial insulin (P<0.01) levels, while rs16889462 GA genotype showed enhanced efficacy on fasting glucose, postprandial glucose, and HbA1c (P<0.01, P<0.01, P<0.05 respectively).

Traits studied:Repaglinide ResponseType 2 Diabetes Mellitus

About SLC30A8

The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

View all SLC30A8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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