title: Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.
abstract: OBJECTIVE
  This study aimed to detect the association between polymorphisms and haplotype in the ATP-binding cassette transporter A1 (ABCA1) gene and overweight/obese Uyghur patients in China.
  
  
  METHODS
  A total of 259 overweight/obese patients and 276 normal weight subjects, which were randomly selected from among 3049 adult Uyghurs, were matched for age. We genotyped ABCA1 single nucleotide polymorphisms of rs2515602, rs3890182, rs2275542, rs2230806, rs1800976, and rs4149313.
  
  
  RESULTS
  (1) The genotypic and allelic frequencies of rs2515602 and rs4149313 differed between the control group and case group. The genotypic frequency of rs2275542 also differed between the control group and case group (p < 0.05); (2) rs2515602, rs2230806, and rs4149313 polymorphisms were significantly related to risk of overweight/obese; (3) a significant linkage disequilibrium (LD) was observed between the ABCA1 gene rs2275542 with rs3890182 and rs2515602 with rs4149313. (4) the C-C-C-A-G-G, T-C-G-A-G-G, and T-T-G-G-G-A haplotypes were significant in normal weight and overweight/obese subjects (p < 0.05); (5) the levels of HDL-C (rs2515602, rs2275542, rs4149313) in normal weight subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C and TG (rs1800976) in overweight/obese subjects were different among the genotypes (p < 0.05).
  
  
  CONCLUSIONS
  The rs2515602, rs4149313, and rs2275542 polymorphisms were associated with overweight/obese conditions among Uyghurs. Strong LD was noted between rs2275542 with rs3890182 and rs2515602 with rs4149313. The C-C-C-A-G-G and T-C-G-A-G-G haplotypes may serve as risk factors of overweight/obesity among Uyghurs. The T-T-G-G-G-A haplotype may serve as a protective factor of overweight/obesity among Uyghurs. Rs2515602, rs2275542, rs4149313, and rs1800976 polymorphisms in the ABCA1 gene may influence lipid profiles.
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. ymhldjxa@sina.com.
authors.forename: Ming-Hong
authors.initials: MH
authors.lastname: Yao
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. hejia123.shihezi@163.com.
authors.forename: Jia
authors.initials: J
authors.lastname: He
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. marulin@126.com.
authors.forename: Ru-Lin
authors.initials: RL
authors.lastname: Ma
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. 13399931625@163.com.
authors.forename: Yu-Song
authors.initials: YS
authors.lastname: Ding
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. guoheng@shzu.edu.cn.
authors.forename: Heng
authors.initials: H
authors.lastname: Guo
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. erniu19880215@sina.com.
authors.forename: Yi-Zhong
authors.initials: YZ
authors.lastname: Yan
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. yfyxxzjy@126.com.
authors.forename: Jing-Yu
authors.initials: JY
authors.lastname: Zhang
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. liujiaming@shzu.edu.cn.
authors.forename: Jia-Ming
authors.initials: JM
authors.lastname: Liu
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. zmberry@foxmail.com.
authors.forename: Mei
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. ruidongsheng@gmail.com.
authors.forename: Dong-Shen
authors.initials: DS
authors.lastname: Rui
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. niuqiang1214@163.com.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Niu
authors.affiliation: Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China. pge888@sina.com.
authors.forename: Shu-Xia
authors.initials: SX
authors.lastname: Guo
mesh_terms: D064286:ATP Binding Cassette Transporter 1 / Q000235:genetics*; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D060005:Genotyping Techniques; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D050177:Overweight / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D005819:Genetic Markers
keywords: ABCA1; Uyghur; haplotype; overweight/obese; polymorphism