This study aimed to investigate the relationship between single nucleotide polymorphisms (SNPs) at the microRNA target sequence in CXCR4 and the susceptibility to knee osteoarthritis (KOA).

A total of 305 patients with KOA and 305 healthy controls were recruited into this study. The genotypes of CXCR4 rs1804029 and rs17848060 loci were analyzed.

The susceptibility to KOA of CXCR4 rs1804029 G allele carriers was 1.33 times (95% CI: 1.09‐1.54, P = .006) that of T allele carriers. The KOA susceptibility in individuals carrying T allele at CXCR4 rs17848060 locus was 1.38 times that of individuals carrying A allele (95% CI: 1.17‐1.57, P < .001). The G allele at CXCR4 rs1804029 locus was the target of hsa‐miR‐146a‐3p, while the A allele at CXCR4 rs17848060 locus could be targeted by hsa‐miR‐20a‐3p. The plasma level of hsa‐miR‐146a‐3p was lower in rs1804029 G allele carriers than T allele carriers (P < .001), whereas plasma level of hsa‐miR‐20a‐3p was higher in rs17848060 T allele carriers than A allele carriers (P < .001).

The SNPs at rs1804029 and rs17848060 loci in CXCR4 were significantly associated with the susceptibility to KOA in Han Chinese population.