Review Article
KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus
Table 1
Characteristics of KCNJ11 gene variants in association with diabetes mellitus.
| Number | SNP |
Location | MAF | Allele | Amino acid | Diabetes | Association | References | Chromosome | Gene |
| 1 | rs2285676 | 17386478 | 3′ UTR | 0.46 | T>C | — | T2DM | Yes | [30] |
| 2 | rs5210 | 17386704 | 3′ UTR | 0.46 | G>A | — | T2DM | Yes | [30, 36, 76] | No | [72, 74] |
| 3 | rs5215 | 17387083 | Exon | 0.28 | G>A | Val250Ile | T2DM | Yes | [27, 30, 35, 36] | No | [49, 50, 69–72] | T1DM | No | [73, 74] | GDM | No | [68] |
| 4 | rs5218 | 17387522 | Exon | 0.27 | C>T | Ala103Ala | T2DM | No | [36] |
| 5 | rs5219 | 17388025 | Exon | 0.27 | G>A | Lys23Gln | T1DM | No | [63, 64] | T2DM | Yes | [19–43] | No | [44–64] | GDM | Yes | [38] | No | [66–68] |
| 6 | rs886288 | 17389616 | 5′ near gene | 0.46 | T>C | — | T2DM | Yes | [36] |
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MAF: minor allele frequency; T1DM: type 1 diabetes mellitus; T2DM: type 2 diabetes mellitus; GDM: gestational diabetes mellitus; SNP: single nucleotide polymorphism; UTR: untranslated region.
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