title: Estrogen receptor alpha gene polymorphism associated with type 2 diabetes mellitus and the serum lipid concentration in Chinese women in Guangzhou.
abstract: BACKGROUND
  Estrogen might play an important role in type 2 diabetes mellitus pathogenesis. A number of polymorphisms have been reported in the estrogen receptor alpha (ERalpha) gene (also named ESR1), including the XbaI and PvuII restriction enzyme polymorphisms of ESR1, which may be involved in disease pathogenesis. The aim of this study was to determine whether ERX gene polymorphisms are associated with type 2 diabetes mellitus and serum lipid level.
  
  
  METHODS
  Two hundred and ninety-nine patients with type 2 diabetes mellitus were compared with three hundred and forty-one health controls of Guangzhou in China, both were male and postmenopausal female residents at 51 - 70 years. ESR1 genotyping was performed using polymerase chain reaction (PCR) and PvuII and XbaI restriction fragment length polymorphism (PCR-RFLP) analysis.
  
  
  RESULTS
  ESR1 allelic frequencies of P, p and X, x alleles were 0.408, 0.592; 0.360, 0.640 in the type 2 diabetes mellitus group and 0.318, 0.682; 0.328, 0.672 in the control group, respectively. In case-control study, there was significant difference in PvuII, but not XbaI, allele frequency between the type 2 diabetes mellitus and control groups (P = 0.001 and P = 0.122). When the group was separated into men and women, the difference was significant in women (P < 0.001) but not in men (P = 0.854) with the PvuII genotype, and the effect of PvuII variant on the development of type 2 diabetes mellitus was improved with aging. In addition, PvuII genotype was associated with blood glucose [fasting blood glucose (FBG), postprandial blood glucose (PBG)] and serum lipid [total cholesterol (TC) and low density lipoprotein (LDL)-c] concentration in healthy women.
  
  
  CONCLUSIONS
  PvuII polymorphism of ESR1 increases susceptibility to type 2 diabetes mellitus in Chinese Guangzhou women. ESR1 variants may also impact serum lipid metabolism, which might provide a mechanism connecting ESR1 to type 2 diabetes.
authors.affiliation: Department of Physiology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Huang
authors.forename: Ting-huai
authors.initials: TH
authors.lastname: Wang
authors.forename: Wen-sheng
authors.initials: WS
authors.lastname: Lu
authors.forename: Pan-wei
authors.initials: PW
authors.lastname: Mu
authors.forename: Yan-fang
authors.initials: YF
authors.lastname: Yang
authors.forename: Wei-wen
authors.initials: WW
authors.lastname: Liang
authors.forename: Cai-xia
authors.initials: CX
authors.lastname: Li
authors.forename: Gui-ping
authors.initials: GP
authors.lastname: Lin
mesh_terms: D000368:Aged; D001786:Blood Glucose / Q000032:analysis; D008078:Cholesterol, LDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008055:Lipids / Q000097:blood*; D016015:Logistic Models; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D001786:Blood Glucose; D008078:Cholesterol, LDL; D047628:Estrogen Receptor alpha; D008055:Lipids