Figure 1

Overview of selected tag SNPs within the entire NLRP3 gene. (A) The pairwise analysis of linkage disequilibrium (LD), based on r², among the 35 SNPs with a minor allele frequency (MAF) ≥ 5% within the NLRP3 gene and the 5-kb up- and downstream regions. The selected six tag SNPs (tSNPs) are indicated by trigones. A LD plot of the 35 SNPs in the 37.953-kb region is displayed by using an r² black-and-white color scheme. Black represents very high LD correlation between SNPs (r² = 0.8 to 1), and white indicates the absence of correlation between SNPs (r² = 0 to 0.2). (B) The six tSNPs and SNPs that are indirectly measured by tSNPs are listed with corresponding r² values. Major and minor alleles of the selected tSNPs are given with their frequencies, based on the HapMap data for the Chinese Han Beijing (CHB) population. (C) The exon-intron structure of the NLRP3 gene and the locations of the tSNPs are shown. rs2027432 (-1,017 G/A) and rs3738448 (-23 G/T) map to within the 5'-flanking region. rs12048215 (5,134 A/G), rs4612666 (19,613 C/T) and rs1539019 (20,844 C/A) are located in introns 3, 7 and 8, and rs10754558 (32,579 C/G) is located in the 3'-untranslated region (3'-UTR).