Association and linkage analyses of interleukin-6 gene 634C/G polymorphism and bone phenotypes in Chinese

In this study, we tested the interleukin-6 (IL-6) gene as an important candidate gene for its linkage and association with the variation of bone phenotypes (bone mineral density [BMD] and bone size) in young Chinese female subjects. We genotyped the IL-6 gene at the −634C/G restriction fragment length polymorphism (RFLP) site (ID, RS1800796) in 1263 individuals from 402 Chinese nuclear families, composed of both parents and at least one healthy daughter (mean age ± SD, 31.4 ± 5.8 years). Using the daughters’ bone phenotypes, we tested total-family association, within-family association (via transmission disequilibrium test, [TDT]), and linkage, between the −634C/G marker and bone phenotypes at the spine and the hip. No significant association or linkage was found for bone size and BMD, although a trend was observed for linkage between the IL-6 gene −634C/G marker and L1–4 spinal BMD (adjusted for age, weight, and height). Our results, together with the findings from other studies, indicate that the IL-6 gene, although important for postmenopausal bone loss, may have a limited impact on peak bone mass variation in a Chinese population.