rs6053005
This is a intron variant variant in the SLC23A2 gene.
▶Research that mentions this SNP (1)
▶Plasma ascorbic acid and the risk of islet autoimmunity and type 1 diabetes: the TEDDY studyAssociationN=1,324Markus Mattila et al.(2020)· Diabetologia
Nested case-control study in the TEDDY cohort examining plasma ascorbic acid and type 1 diabetes autoimmunity. Childhood plasma ascorbic acid was inversely associated with islet autoimmunity risk (OR 0.96 per 1 mg/l, p=0.041), particularly insulin autoantibodies (OR 0.94), but not type 1 diabetes (OR 0.93). SLC2A2 rs5400 was associated with increased type 1 diabetes risk (OR 1.77, p=0.015).
About SLC23A2
The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
View all SLC23A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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