Fig. 1Genome-wide association of single nucleotide polymorphisms
(SNPs) with type 2 diabetes mellitus (T2DM) in Korea Association Resource (KARE) study samples. (A) Quantile-quantile plot for test statistics. The observed P values were plotted as a function of the expected P values of the null distribution for T2DM. The shaded region represents the 95% concentration band. (B) Scatter plots of P values derived from genome-wide scan results for T2DM. Single-marker tests of association with T2DM were scrutinized by the 1 degree of freedom trend test. The trend test P value of each SNP is plotted
(Y axis) as -log10 (P) according to its chromosomal location
(X axis). SNPs from the KARE genome-wide association study with P value <10-4 are shown in red.
Fig. 2Signal region on chromosome 12q24 covering type 2 diabetes mellitus (T2DM)-associated loci. (A) Signal plot of -log10 (P values) using the trend test for T2DM association in a genomic region (in Mb). Black and gray dots indicate genotyped single nucleotide polymorphisms (SNPs) in Korea Association Resource genome-wide association study and imputed SNPs, respectively. Red diamonds indicate the strongest association signals detected in the genome-wide scan. Genomic positions are based on National Center for Biotechnology Information (NCBI) genome build 36 and dbSNP build 128. In the bottom of the signal plot, the locations of known genes are indicated with red boxes and green lines, which indicate exons and introns, respectively. Genetic information was obtained from NCBI build 36. (B) Plot of linkage disequilibrium (r2) for all SNPs across the region from Japanese in Tokyo, Japan and Han Chinese in Beijing, China founders in HapMap (release 22). This plot was generated using the Haploview 4.1 program.
Table 1Genetic loci associated with type 2 diabetes mellitus after adjusting for age, sex, body mass index, and recruitment area
Table 2Corroborative association of strong type 2 diabetes mellitus-associated single nucleotide polymorphisms with glycemic traits
Table 3Results of a sex-specific effect for type 2 diabetes mellitus (T2DM) and T2DM-related traits