ABCMdb

PMID: 22704848

Gonen MS, Arikoglu H, Erkoc Kaya D, Ozdemir H, Ipekci SH, Arslan A, Kayis SA, Gogebakan B
Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population.
Arch Med Res. 2012 May;43(4):317-23. doi: 10.1016/j.arcmed.2012.06.001. Epub 2012 Jun 13., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCC8 p.Ala1369Ser Recent studies showed that specifically E23K variant of KCNJ11 and A1369S of ABCC8 play an important role in predisposition to T2DM (10e12). Login to comment 33 ABCC8 p.Ala1369Ser It has also been reported that the individual containing the K allele in E23K also contains the A allele in A1369S (10,11). Login to comment 91 ABCC8 p.Ala1369Ser The SNPs A1369S of ABCC8 gene had no association with T2DM ( p O0.05). Login to comment 102 ABCC8 p.Ala116Pro genotype distributions of five SNPs (E23K in both study group, I337V, A116P, R1273R in case group) deviated from HWE ( p !0.05). Login to comment 104 ABCC8 p.Ala1369Ser In contrast, the SNP A1369S having a homozygote genotype for allele 2 under recessive model increased glucose level. Login to comment 116 ABCC8 p.Ala1369Ser ABCC8 p.Ala116Pro c2 Test results for associations between SNPs in ABCC8 and KCNJ11 genes and risk of type 2 diabetes Rs id SNP Gene Genotype Case Control Additive Dominant Reccessive n (%) n (%) p p p C/C 100 (100) 109 (98.9) rs8192695 A110A ABCC8 C/T - 1 (1.1) O0.05a - - - - - C/C 68 (40.2) 50 (56.2) rs72559731 A116P ABCC8 C/T 101 (59.8) 39 (43.8) O0.05a - - - - - C/C 68 (40.5) 49 (47.1) 1799854 16 (3) ABCC8 C/T 88 (52.4) 33 (31.7) !0.05 O0.05 !0.05 T/T 12 (7.1) 22 (21.2) G/G 15 (11.1) 31 (37.8) rs1799859 R1273R ABCC8 G/A 110 (81.5) 39 (47.6) !0.05 !0.05 O0.05 A/A 10 (7.4) 12 (14.6) G/G 4 (3.4) 7 (6.8) rs757110 A1369S ABCC8 G/T 35 (29.9) 40 (38.8) O0.05 O0.05 O0.05 T/T 78 (66.7) 56 (54.4) A/A 139 (92.7) 106 (96.4) 437 - ABCC8 A/T 11 (7.3) 4 (3.6) O0.05a - - - - - G/G 52 (32.1) 31 (39.2) rs5219 E23K KCNJ11 G/A 110 (67.9) 48 (60.8) O0.05a - - - - - C/C 109 (71.7) 80 (70.8) rs5218 A190A KCNJ11 C/T 42 (27.6) 31 (27.4) O0.05 O0.05 O0.05 T/T 1 (0.7) 2 (1.8) C/C 144 (97.3) 96 (94.1) rs5216 L267L KCNJ11 C/G 4 (2.7) 6 (5.9) O0.05a - - - - - C/C 68 (45.6) 60 (51.7) rs1800467 L270V KCNJ11 C/G 54 (36.3) 44 (37.9) O0.05 O0.05 O0.05 G/G 27 (18.1) 12 (10.4) A/A 59 (44.4) 56 (50.0) rs5215 I337V KCNJ11 A/G 31 (23.3) 44 (39.3) 0.07 O0.05 O0.05 G/G 43 (32.3) 12 (10.7) a These SNPs had only two genotypes; therefore, 11 vs. 12 (or 12 vs. 22) presented as additive model. Login to comment 129 ABCC8 p.Ala1369Ser In previous studies, the missense A1369S variant in exon 33 of ABCC8 gene showed association with T2DM in several populations (10e12,44). Login to comment 132 ABCC8 p.Ala1369Ser Controversially, we found no association between the A1369S variant and T2DM in fasting glucose in our population. Login to comment