Chen Yan, Jiang Xiao-yan, Xu Li, Li Xia, Cao Fei-fei, Li Lei, Lu Ming, Jin Li, Wang Xiao-feng
Department of Gynecologic Endocrine, Jinan Maternity and Child Care Hospital, Jinan, People's Republic of China.
Lipids. 2009 Aug;44(8):719-23. doi: 10.1007/s11745-009-3325-3. Epub 2009 Jul 4.
Recently, two polymorphisms (rs1884052 and rs3778099) of estrogen receptor alpha (ER-alpha) gene were identified as being associated with primary quantitative bone mineral density (BMD) in a genome-wide association (GWA) study in Framingham cohorts. In this study we aimed at investigating the association of rs1884052 and rs3778099, and another polymorphism (rs2234693) located at intron 1 of the ER-alpha gene with BMD, body mass index (BMI), glucose, triglyceride, and total cholesterol (CHO) levels in Chinese Hans. We recruited 425 consecutive adult volunteers who had a physical examination in the Jinan Maternity and Child Care Hospital. We did not observe significant association of rs1884052 and rs3778099 with BMD, BMI, glucose, triglyceride, and total cholesterol (CHO) levels. For rs2234693, increased levels of BMD for hip, spine or whole-body regions were consistently observed in TT/TC genotype carriers than in CC genotype carriers, although the board line significance diminished after adjusting for age and gender. However, significant association of rs2234693 with glucose and CHO levels were observed in our sample. Subjects with TC/CC genotypes were associated with an increased level of glucose (p = 0.013) and CHO (p = 0.032) levels than subjects with TT genotypes. In conclusion, we did not confirm the association of rs1884052 and rs3778099 with BMD originally discovered in a GWA study; however, we made novel discoveries that rs2234693 was associated with glucose and CHO levels in Chinese Hans.
最近，在弗雷明汉姆队列的全基因组关联（GWA）研究中，雌激素受体α（ER-α）基因的两个多态性（rs1884052和rs3778099）被确定与原发性定量骨矿物质密度（BMD）相关。在本研究中，我们旨在调查rs1884052、rs3778099以及位于ER-α基因内含子1的另一个多态性（rs2234693）与中国汉族人群的骨密度、体重指数（BMI）、血糖、甘油三酯和总胆固醇（CHO）水平之间的关联。我们招募了425名在济南市妇幼保健院进行体检的连续成年志愿者。我们未观察到rs1884052和rs3778099与骨密度、BMI、血糖、甘油三酯和总胆固醇（CHO）水平之间存在显著关联。对于rs2234693，尽管在调整年龄和性别后边界显著性降低，但TT/TC基因型携带者髋部、脊柱或全身区域的骨密度水平始终高于CC基因型携带者。然而，我们的样本中观察到rs2234693与血糖和CHO水平存在显著关联。与TT基因型受试者相比，TC/CC基因型受试者的血糖（p = 0.013）和CHO（p = 0.032）水平升高。总之，我们未证实GWA研究中最初发现的rs1884052和rs3778099与骨密度的关联；然而，我们有新的发现，即rs2234693与中国汉族人群的血糖和CHO水平相关。
