Functional Variants in NFKBIE and RTKN2 Involved in Activation of the NF-κB Pathway Are Associated with Rheumatoid Arthritis in Japanese
Figure 2
Genomic position and LD blocks.
(A) Genomic position of non-synonymous (ns)SNPs and regulatory (r)SNPs in NFKBIE and RTKN2. NFKBIE (top) and RTKN2 (bottom) correspond to transcripts NM_004556.2 and NM_145307.2, respectively. Exons are shown as boxes, where black boxes represent coding regions and open boxes represent untranslated regions. Intron sequences are drawn as lines. Open triangles represents nsSNPs and open diamond shapes indicate candidate rSNPs. dbSNP IDs of candidate causal variants were boxed in a solid line. (B) LD patterns for nsSNPs and candidate rSNPs in NFKBIE (left) and RTKN2 (right) gene regions. LD blocks were constructed from genotype data of 3,290 control individuals of the GWAS. The diagrams show pairwise LD values as quantified using the D′ and r2 values.