| Objective:Identifying the osteoporosis risk genes by genetic statistic method is an important way for exploring the pathogenic mechanism of osteoporosis so as to promoting the prevention and treatment of this disease. To further assess the genetic effects of MATN3, GPR98, ADIPOR1and PLIN1polymorphisms on human osteoporosis, we performed the association analysis between these four genes and BMD in large Chinese population and large Caucasian populations.Methods:We studied five different populations. The American Omaha osteoporosis study (OOS), Kansas-city osteoporosis study (KCOS), and Chinese osteoporosis study (COS) were three in-house studies in our lab. The genotype and phenotype data of American Framingham study (FHS) and the Indiana Fragility Study (IFS) were come from the public database (dbGAP). The five populations were genotyped by genotyping chip and the spine and hip BMD were tested by Dual-energy X-ray absorptiometry. The body measurement data such as height, weight were also collected. The association analyses were performed under an addictive model and the Meta-analysis were performed in the four American Caucasian populations.Results:In the association analysis between the spine BMD and the polymorphisms of MATN3in Chinese population. There were6SNP(rs11689431, rs11674251, rs6734005, rs3731667, rsl6987297, rrs2244939) passed the multiple testing correction(P<0.0033), with rs11689431and rs11674251achieving very low P value (3.77×10-5and3.35×10-5). The Meta-analysis in American populations didn’t detect any significant association signal of MATN3with spine or hip BMD. The association P value of GPR98SNP rs7733007with spine BMD in Chinese was nominal significant (P<0.05). In the Meta-analysis in Caucasian, GPR98SNP rsl2658994achieved Meta P<0.05in hip, four GPR98SNP (rs6873773, rs13176728, rs13163651, rs10514345) reached Meta P<0.05in spine. There is no significant association signal being detected in the association analysis between the polymorphisms of ADIPORl or PLINl with BMD in Chinese and Caucasian populations.Conclusion:This study showed that the MATN3polymorphisms influenced BMD significantly in Chinese population, but no nominal significant association was detected in Caucasian populations. This study detected a marginal significance between GPR98and the BMD in Chinese and Caucasian populations. The ADIPOR1and PLIN1SNPs showed no significant association with BMD in Chinese and Caucasian populations. |