Association of interleukin-6 gene polymorphisms with hand osteoarthritis and hand osteoporosis

Orit Blumenfeld, Frances M.K. Williams, Ana Valdes, Deborah J. Hart, Ida Malkin, Timothy D. Spector, Gregory Livshits

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Objective: Several genes, including IL-6 encoding pro-inflammatory cytokines, are involved in development of osteoarthritis and osteoporosis. The association of radiographic hand osteoarthritis (RHOA) and osteoporosis related phenotypes (RHOP) with polymorphisms in IL-6 has been reported inconsistently. The aim of this study was to examine the association, between RHOA and RHOP and IL-6 polymorphisms in two independent samples. Methods: Two samples: UK females, including 1440 individuals assessed for RHOA and 3470 assessed for RHOP; Chuvash pedigree including 1499 females and males were assessed for RHOP and RHOA. SNPs were genotyped in the IL-6 genomic region, and used in association analysis with RHOA and RHOP phenotypes. Results: RHOP phenotypes showed similar heritability estimates in both samples, ranging from 34.5. ±. 5.5% to 61.0. ±. 2.4%. RHOA in Chuvash had substantially lower heritability estimates compared to twins (e.g. OSP scores: 11.8. ±. 2.3% vs. 39.2. ±. 4.1%) with much higher prevalence and considerably stronger correlation with age (r= 0.811 vs. r= 0.505). RHOA in Chuvash sample may be traumatic in nature, caused by heavy and prolonged manual work related to their private farming. There were a number of statistically significant association results with both types of phenotypes. The most consistent result was obtained for JSN in both samples with SNP from the same haploblock. Their combined probability of no association was only p= 0.000003. Additionally, there were SNPs common for both RHOA and RHOP. Conclusions: We have shown polymorphisms in IL_6 are significantly associated with RHOA and hand RHOP in two samples having different ethnicity and lifestyle. Age. ×. environment. ×. genes interaction appears as an important factor of RHOA manifestation and progression.

Original languageEnglish
Pages (from-to)94-101
Number of pages8
Issue number1
StatePublished - Sep 2014
Externally publishedYes


  • BMD
  • Joint space narrowing
  • Kellgren/Lawrence
  • Osteophytes
  • SNP\


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