rs4801275
This variant is located in the SLC27A5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Candidate gene association study of type 2 diabetes in a nested case‐control study of the EPIC‐Potsdam cohort – Role of fat assimilationAssociationN=576Eva Fisher et al.(2007)· Molecular Nutrition & Food Research
Candidate gene association study screening 15 genes involved in fat assimilation for type 2 diabetes susceptibility. In 192 cases and 384 controls from EPIC-Potsdam, six SNPs showed significant associations: FABP6 Thr79Met (rs1130435, OR=0.45, 95% CI 0.22-0.92) showed the strongest protective effect; DBI rs2084202 and rs8192506 (Met71Val), PTGES2 rs13283456 (Arg298His, OR=0.64), SLC27A5 promoter variant (OR=0.54), and novel CLPS Ala109Cys variant (OR=5.83) also associated with diabetes risk. Results provide preliminary evidence for fat assimilation genes in type 2 diabetes susceptibility but require further verification.
About SLC27A5
The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
View all SLC27A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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