Association of ER-alpha gene polymorphism with metabolic phenotypes in Chinese Hans.

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.