Large Scale Replication Study of the Association between HLA Class II/BTNL2 Variants and Osteoarthritis of the Knee in European-Descent Populations

2011

Association between HLA Variants and Knee Osteoarthritis in European Populations

Sample size: 42457 publication 10 minutes Evidence: low

Author Information

Author(s): Valdes Ana M., Styrkarsdottir Unnur, Doherty Michael, Morris David L., Mangino Massimo, Tamm Agu, Doherty Sally A., Kisand Kalle, Kerna Irina, Tamm Ann, Wheeler Margaret, Maciewicz Rose A., Zhang Weiya, Muir Kenneth R., Dennison Elaine M., Hart Deborah J., Metrustry Sarah, Jonsdottir Ingileif, Jonsson Gudbjorn F., Jonsson Helgi, Ingvarsson Thorvaldur, Cooper Cyrus, Vyse Timothy J., Spector Tim D., Stefansson Kari, Arden Nigel K.

Primary Institution: King's College London

Hypothesis

Can the association of two SNPs in the HLA region with knee osteoarthritis observed in Japanese populations be replicated in European descent populations?

Conclusion

The study found no significant association between the SNPs rs7775228 and rs10947262 and knee osteoarthritis in European descent populations.

Supporting Evidence

The study included 36,408 controls and 5,749 knee OA cases for rs10947262.
For rs7775228, 32,823 controls and 1,837 knee OA cases were analyzed.
Odds ratios for both SNPs were not statistically significant in the European populations.
The study had sufficient power to detect modest genetic effects.
Linkage disequilibrium patterns varied significantly between Japanese and European populations.
Different definitions of knee OA across studies may have influenced the ability to detect associations.
Imputed data was used for some analyses, which may affect the reliability of the results.
The findings suggest that the initial associations observed in Japanese populations may not apply to Europeans.

Takeaway

The researchers looked for a link between certain genes and knee arthritis in Europeans but didn't find any evidence that these genes are related to the disease.