Association analyses of FGFR2 gene polymorphisms with femoral neck bone mineral density in Chinese Han population
Association analyses of FGFR2 gene polymorphisms with femoral neck bone mineral density in Chinese Han population
复制标题
中国汉族人群FGFR2基因多态性与股骨颈骨密度的关联分析
DOI：
10.1007/s00438-014-0936-z
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发表时间：
2015-04-01
影响因子：
3.1
通讯作者：
Guo, Yan
中科院分区：
文献类型：
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作者：
Dong, Shan-Shan;Yang, Tie-Lin;Guo, Yan
股骨颈（FN）骨密度（BMD）是骨质疏松症最重要的危险表型，并已被用作描述骨质疏松症的参考标准。与FN BMD相关的遗传变异的鉴定可能为治疗研究提供潜在的靶点。鉴于FGFR 2基因在骨中的重要生物学作用，我们在1,300名中国汉族受试者中检测了FGFR 2多态性与FN BMD的相关性。在保守Bonferroni校正后的显性模型下，在28个SNPs中，2个SNPs，即rs 11200014和rs 1078806，与FN BMD显著相关（P分别为0.0014和0.0012）。这两个SNP处于完全连锁不平衡状态。此外，基于单倍型的关联检验确定了与FN BMD显著相关的两个单倍型，包括两个SNP所在的第4区中的一个单倍型。然而，与以前在白色老年男性中的研究不同，我们在性别分层分析中没有发现任何显著的相关性。总之，我们的研究结果表明，FGFR 2基因可能在中国汉族人群FN BMD的变化中发挥重要作用，不受性别影响。需要在多个和大样本中进行进一步研究以阐明骨质疏松症的潜在分子机制和病理生理学。
Femoral neck (FN) bone mineral density (BMD) is the most important risk phenotype for osteoporosis and has been used as a reference standard for describing osteoporosis. Identification of genetic variations associated with FN BMD may provide potential targets for therapeutic studies. Given the important biological role of FGFR2 gene involved in bone, we tested the associations between FGFR2 polymorphisms and FN BMD in 1,300 Chinese Han subjects. Of the 28 total SNPs, 2 SNPs, namely rs11200014 and rs1078806, were significantly associated with FN BMD under dominant model (P = 0.0014 and 0.0012, respectively) after conservative Bonferroni correction. The two SNPs were in complete linkage disequilibrium. In addition, haplotype-based association tests identified two haplotypes significantly associated with FN BMD, including one haplotype in block 4 where the two SNPs located. However, different from previous studies in white older men, we did not detect any significant association in sex-stratified analyses. In summary, our findings suggest that the FGFR2 gene may play an important role in variation in FN BMD in Chinese Han population, independent of gender effects. Further studies performed in multiple and large samples are needed to elucidate the underlying molecular mechanism and pathophysiology of osteoporosis.