Journal of Rheumatic Diseases

Table. 1.

Characterization of OA risk variants in Han Chinese populations

Sample size Population Variants Remarks
730 HOA, 1,220 Cx Chinese, Han rs187064, TLR(TLR)9 A allele significantly associated with increase of HOA risk
348 KOA, 423 Cx Chinese, Han rs11564299, Cadherin-2(CDH2) G allele or GG genotype significantly associated with increased risk of knee OA, especially for females, smokers, drinkers, BMI≥25. Also associated with severity of OA and CRP
884 HOA, 1,896 controls Chinese, Han rs10896015, LTBP3 (the latent TGF-β binding protein3) A allele significantly associated with a decreased risk of HOA and its severity
658 HOA, 1,412 healthy controls Chinese, Han rs2424905, DNMB (DNA methyltransferase 3 β) T allele significantly associated with an increased risk of HOA and with with higher Kellgren-Lawrence
500 KOA, 500 healthy controls Chinese, Han rs4144782 EN1 (engrailed-1) AG or AA genotype have an 1.44-fold increased risk of OA
196 KOA, 442 health controls Chinese, Han rs4238326 ALDH1 (Aldehyde Dehydrogenase 1) minor allele (C) significantly associated with a decreased risk of OA
6,417 OA cases and 8,605 controls rs2234693 ER-α (estrogen receptor alpha) C allele significantly associated with an increased decreased risk of knee OA
532 KOA, 927 Cx Chinese, Han rs4867568, LSP1P3 Significantly higher frequency of allele T in patients with mild KOA than in those with severe KOA

OA: osteoarthritis, HOA: hip OA, KOA: knee OA, BMI: body mass index, CRP: C-reactive protein.

J Rheum Dis 2022;29:132~139 https://doi.org/10.4078/jrd.2022.29.3.132
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