title: Association of copy number variation in the AHI1 gene with risk of obesity in the Chinese population.
abstract: OBJECTIVE
  The prevalence of obesity has increased dramatically over the past decade. Gene copy number variants (CNVs) have been recognized as a hereditable source of susceptibility in human complex diseases including obesity. Recent studies have shown that Abelson helper integration site 1 (Ahi1) gene has a significant contribution in the homeostasis regulation in mouse models of obesity. A study was therefore carried out to investigate whether CNVs in AHI1 gene contribute to human obesity.
  
  
  METHODS
  We analyzed samples from 70 Chinese overweight adults and 74 healthy controls for DNA copy number change using the Affymetrix single-nucleotide polymorphism (SNP) 6.0 array. Validation of CNVs of AHI1 was achieved by real-time PCR using the ΔΔC(t) method.
  
  
  RESULTS
  Copy number gain analysis revealed significant gains (P=0.0017) of AHI1 gene copy number in 17 of 70 (24.3%) samples but only four of 74 (5.4%) controls overall. Then we studied the frequency distribution of CNVs in AHI1 gene according to body mass index (BMI) grade. Five out of 28 (18.5%) at-risk obese, six out of 26 (26.9%) moderate obese, and six out of 17 (29.4%) severe obese subjects studied showed increased AHI1 gene copy number.
  
  
  CONCLUSIONS
  The result suggested that there was a significant linear trend for increasing AHI1 gene copy number frequencies with increasing BMI.
authors.affiliation: Department of Science and Technology, Beijing University of Chinese Medicine, 11 Bei San Huan Dong Lu, Chaoyang District, Beijing, People's Republic of China.
authors.forename: Liansha
authors.initials: L
authors.lastname: Huang
authors.forename: Dacai
authors.initials: D
authors.lastname: Teng
authors.forename: Hao
authors.initials: H
authors.lastname: Wang
authors.forename: Guoqing
authors.initials: G
authors.lastname: Sheng
authors.forename: Tonghua
authors.initials: T
authors.lastname: Liu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D033942:Adaptor Proteins, Vesicular Transport; D000328:Adult; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D056915:DNA Copy Number Variations; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000208:ethnology / Q000235:genetics*; D011153:Population; D012307:Risk Factors
chemical_list: C487178:AHI1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport