The aim of this study was to evaluate the association of two polymorphisms located within (rs11171806) or near (rs2066808) of the <i>IL-23A</i> gene with the presence of premature coronary artery disease (CAD) and with cardiometabolic parameters.
After multiple testing corrections, we identified two SNPs at new loci (rs16917546 at 10q21.1: odds ratio (OR) = 1.06, p = 3.16 × 10<sup>-7</sup> and rs79824801 at 12q13.3: OR = 1.10, p = 1.88 × 10<sup>-5</sup> ) for the first time as independently related to BCC risk in meta-analysis; and both SNPs were nominally significant in two data sets.
After multiple testing corrections, we identified two SNPs at new loci (rs16917546 at 10q21.1: odds ratio (OR) = 1.06, p = 3.16 × 10<sup>-7</sup> and rs79824801 at 12q13.3: OR = 1.10, p = 1.88 × 10<sup>-5</sup> ) for the first time as independently related to BCC risk in meta-analysis; and both SNPs were nominally significant in two data sets.
The genotype-phenotype analysis showed significant association between the IL-17F rs2397084 and mean value of the hemoglobin (p = 0.01), the IL-17F rs763780 and age (p = 0.008) and lupus anticoagulant (p = 0.09), the IL-23 rs11171806 and urea (p = 0.08) and C3 complement (p = 0.03), and the IL-23R rs1884444 G/T and activated partial thromboplastin time (p = 0.06).
We also performed an association study with the IL-23 gene polymorphism rs11171806 in both cohorts, in Shanghai cohorts, the frequencies of rs11171806 alleles were strongly different between Graves' disease patients (G 95.7% and A 4.3%) and healthy controls (G 97.7% and A 2.3%) (P=2.6×10(-3), OR=1.93 (95% CI: 1.25-2.97)), and in Xiamen cohorts, the proportion of individuals carrying the A allele of rs11171806 was the same significantly higher in Graves' disease patients than in controls [Graves' disease vs. control, 4.8% vs. 4.3%, OR=2.15 (95% CI: 1.23-3.79), P(allele)=6.3×10(-3)].
The exonic SNP rs11171806 from IL23A gene was significantly underrepresented in patients versus controls (p=0.03, OR 0.391) and the carriers of rs11171806/rs2066808 AC haplotype had decreased risk for PsA (p=0.03).