Figure 1: Structure of the ANK1 risk locus and locations of the investigated SNPs. | Scientific Reports

Figure 1: Structure of the ANK1 risk locus and locations of the investigated SNPs.

From: A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene

Figure 1

(A) Distribution of 8 candidate SNPs within the different transcripts of ANK1. The UCSC Genome Browser diagram shows that the ANK1 gene is transcribed from right to left, with P1 and P2 promoter-specific transcripts. The green peaks are related to the open chromatin in HSMM cells. Haplotype analysis results from the HapMap CHB genotype data are shown in a colour-coded scale, expressing the logarithm of odds (LOD) value for the LD (red: LOD score ≥ 2 and D′ = 1; pink: LOD score ≥ 2 and D′ < 1; blue: LOD score < 2 and D′ = 1; white: LOD score < 2 and D′ < 1). (B) T2D risk SNPs located in the sAnk1 transcript (magnified views from the boxed area in Fig. 1A). The results from the 2-stage case-control studies confirmed that rs508419 was localized to the ANK1 P1 promoter and that 2 additional variants (rs516946 and rs515071) were associated with T2D. (C) LD mapping of the 3 associated SNPs (P < 0.01; left) examined in this study and the HapMap Phase II CHB genotype data (P < 0.01; right). The LD structures of all SNPs (including the 3 risk SNPs) were analysed using Haploview 4.2.

Back to article page