Genetic Analysis Identifies XXXX as a Novel Gene Affecting Bone Mineral Density and Osteoporotic Fractures in Chinese Population.

@entity174 @entity71696 @entity170 @entity79 @entity173 @entity71697 @entity71695 @entity7800
@entity7800 gene, playing an essential role in regulating osteoblast differentiation and chondrocyte maturation, may influence @entity79 ( @entity79 ) and @entity170 , but the genetic variations actually leading to the association remain to be elucidated. Therefore, the aim of this study was to investigate whether the genetic variants in @entity7800 are associated with @entity79 and @entity174 risk. This study was performed in three samples from two ethnicities, including 1,300 Chinese Han subjects, 700 Chinese Han subjects (350 with @entity173 and 350 healthy controls) and 2,286 US white subjects. Twenty-eight SNPs in @entity7800 were genotyped and tested for associations with hip @entity79 and @entity174 . We identified 3 SNPs in @entity7800 significantly associated with hip @entity79 in the Chinese population after multiple testing adjustments, which were @entity71695 (P = 1.06*10-4, b: -0.018 for allele C), @entity71696 (P = 1.30*10-4, b: -0.018 for allele T), and @entity71697 (P = 1.59*10-3, b: -0.015 for allele C), separately. These three SNPs were in high linkage disequilibrium. Haplotype analyses detected two significantly associated haplotypes, including one haplotype in block 2 (P = 9.54*10-4, b: -0.016) where these three SNPs located. SNP @entity71697 was also associated with @entity173 (P = 0.043, OR: 1.42) in the Chinese population. The effect on @entity174 risk was consistent with its association with lower @entity79 . However, in the white population, we didn't observe significant associations with hip @entity79 . eQTL analyses revealed that SNPs associated with @entity79 also affected @entity7800 mRNA expression levels in Chinese. Our findings, together with the prior biological evidence, suggest that @entity7800 could be a new candidate for @entity170 in Chinese population. Our results also reveal an ethnic difference, which highlights the need for further genetic studies in each ethnic group.
