The effect of ITLN1, XCL2 and DOT1L variants on knee osteoarthritis risk in the Han population.

Abstract

Knee osteoarthritis (KOA) is a complex multifactorial disease, in which genetic factors account for 50% of the risk of osteoarthritis. This study investigated the association between ITLN1, XCL2 and DOT1L variants and KOA risk in the Han population. We applied Agena MassARRAY technology platform to genotype five single-nucleotide polymorphisms (SNPs) in 710 KOA patients and 709 controls. The correlation between ITLN1, XCL2 and DOT1L SNPs (rs2274908, rs4282797, rs4301615 and rs3815308) and KOA risk was calculated by logistic regression analysis, with odds ratio (OR) and 95% confidence intervals (CIs). Also, the relationship between genotypes at these different loci and clinical parameters (White blood cell, Eosinophil ratio, Neutrophil count, Eosinophil count, Monocyte ratio and Monocyte count) among patients and controls was analyzed. In the overall results, rs2274908, rs4301615 and rs3815308 were correlated with KOA susceptibility. After gender stratification analysis, ITLN1 rs2274908 and XCL2 rs4301615 were related to an increased risk of KOA in males, and ITLN1 rs2274908 and DOT1L rs3815308 were related to an increased risk of KOA in females. After age stratification analysis, ITLN1 rs2274908 and XCL2 rs4301615 were correlated with an increased risk of KOA in people aged > 65year old. After smoking stratification analysis and drinking stratification analysis, ITLN1 rs2274908, XCL2 rs4301615 and DOT1L rs3815308 were still associated with the risk of KOA. In short, ITLN1 rs2274908, XCL2 rs4301615 and DOT1L rs3815308 were related to KOA risk in the Han population, which was helpful to clarify the pathogenesis of these sites in KOA.