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.