ABCMdb

PMID: 14551916

Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ
Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.
PLoS Biol. 2003 Oct;1(1):E20. Epub 2003 Oct 13., [PubMed]

Sentences

No. Mutations Sentence Comment

79 ABCC8 p.Ala1369Ser ABCC8 p.Ala1369Ser In ABCC8, five SNPs were associated with disease status under multiple models; the strongest evidence for association with disease were with SNP79 and SNP81, respectively an intronic variant (OR 1.68, p ¼ 0.0043; see Table 2) and a missense variant A1369S (OR 1.68, p¼0.0048; see Table 2). Login to comment 85 ABCC8 p.Ala1369Ser ABCC8 p.Ala1369Ser O2 0.0258 KCNJ11 74 3pþ215 0.75 0.0299 0.76 0.0021 0.59 0.0027 76 A190 0.79 0.0127 0.62 0.0260 77 E23K 1.49 0.0333 ABCC8 79 IVS38þ54 1.25 0.0131 1.68 0.0043 81 A1369S 1.23 0.0256 1.68 0.0048 84 IVS18-36 3.43 0.0163 87 K649 3.90 0.0157 89 IVS11-74 2.82 0.0480 ABCC9 100 IVS13-76 1.99 0.0339 LIPC 114 IVS1þ49 0.76 0.0468 0.77 0.0291 PYY 123 IVS3þ68 1.47 0.0240 1.47 0.0157 INSR 131 IVS6þ43 1.48 0.0039 1.32 0.0119 SNP identifiers (SNPID), OR, significance level (p value), and genetic model are shown. p values for the additive effect are for the test for a linear trend across the genotypes, which were coded as 0 ¼ 11, 1 ¼ 12, 2 ¼ 22. Login to comment 114 ABCC8 p.Ala1369Ser ABCC8 p.Ala1369Ser Association of KCNJ11 and ABCC8 Variants with Type 2 Diabetes Status Adjusted for E23K Genotype Gene SNPID SNP Allele 2 Dominant (22 þ 12) Additive Effect Allele 2 Recessive (11 þ 12) OR p Value OR p Value OR p Value KCNJ11 74 UTR3þ215 0.78 0.0846 0.78 0.0256 0.65 0.0149 76 A190 0.79 0.0948 0.82 0.0765 0.67 0.0672 ABCC8 79 IVS38þ54 1.62 0.3644 2.09 0.0652 3.67 0.0536 81 A1369S 1.36 0.5461 1.68 0.1878 2.85 0.1339 84 IVS18-36 0.99 0.9392 1.05 0.7251 3.23 0.0401 87 K649 1.09 0.5562 1.16 0.2767 4.36 0.0214 89 IVS11-74 0.83 0.1934 0.91 0.4635 3.16 0.0445 SNP identifiers (SNPID), OR, significance level (p value), and genetic model are shown. p Values for the additive effect are for the test for a linear trend across the genotypes, which were coded as 0 ¼ 11, 1 ¼ 12, 2 ¼ 22. Login to comment 531 ABCC8 p.Ala1369Ser The A1369S variant in the gene ABCC8 should have been written S1369A.The alanine variant is associated with increased risk.This mistake affects Tables 2 and 4,the text of the article in the section entitled "ABCC8 and KCNJ11" on page 45,and the Supporting Information Tables S1 and S2. Login to comment