Investigation of the Association Between Toll-like Receptor 9 Gene Polymorphisms and Sarcoidosis in Japanese Patients

Figures & data

FIGURE 1.  Linkage disequilibrium plot of five polymorphic TLR9 SNPs in 507 study participants. A schematic of the TLR9 gene is shown as a black line with black boxes representing the coding region and white boxes representing the untranslated region. The locations of the genotyped SNPs are indicated by the dotted line. The D′ value and r² value (in parentheses) corresponding to each SNP pair are expressed as a percentage and shown within the respective square. Color scheme is based on D′ and logarithm of the odds (LOD) score values: blue, D′ = 1 and LOD < 2; shades of pink/red, D′ < 1 and LOD ≥ 2; bright red, D′ = 1 and LOD ≥ 2.

TABLE 1. Allele frequencies of SNPs of the TLR9 gene among sarcoidosis patients and controls.

					Minor allele frequency, n (%)
SNP	Position (build 37.1)	Gene location	Amino acid change	Alleles (1/2)	Patients (n = 239)	Controls (n = 268)	p	pc
rs5743846	52,255,688	Exon 2	Ala to Thr	G/A	0 (0.0)	0 (0.0)	–
rs5743845	52,255,744	Exon 2	Arg to Gln	G/A	0 (0.0)	4 (0.7)	0.058	0.199
rs352140	52,256,697	Exon 2	Synonymous	T/C	240 (50.2)	266 (49.6)	0.853
rs5743843	52,258,095	Exon 2	His to Gln	T/G	0 (0.0)	0 (0.0)	–
rs5743842	52,258,319	Exon 2	Arg to Cys	C/T	0 (0.0)	0 (0.0)	–
rs352139	52,258,372	Intron 1		G/A	238 (49.8)	262 (48.9)	0.772
rs5743836	52,260,782	5′ UTR		T/C	0 (0.0)	4 (0.7)	0.058	0.199
rs187084	52,261,031	5′ UTR		C/T	234 (49.0)	256 (47.8)	0.704

1, major allele; 2, minor allele. Position is distance from the short arm telomere of chromosome 3. p values were calculated by χ² test 2 × 2 contingency table. We corrected these p values (p_c) for multiple testing by Haploview program using 10,000 permutations.