title: c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians.
abstract: BACKGROUND
  Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the CETP gene variations in CAD patients of South Indian origin.
  
  
  METHODS
  We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
  
  
  CONCLUSIONS
  Our analysis revealed a total of 13 variations. Of these, one3'UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50-3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40-2.63, p = 2.57x10-5). Mutant allele "A" was observed to influence the higher concentration of mRNA (p = 7.09×10-3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of "A" allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
  
  
  CONCLUSIONS
  This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.
authors: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors: Mala
authors: M
authors: Ganesan
authors: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors: Sheikh
authors: S
authors: Nizamuddin
authors: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors: Shiva Krishna
authors: SK
authors: Katkam
authors: Department of Clinical Pharmacology and Therapeutics, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, India.
authors: Konda
authors: K
authors: Kumaraswami
authors: Yashoda Super Specialty Hospital, Hyderabad, India.
authors: Uday Kumar
authors: UK
authors: Hosad
authors: Yashoda Super Specialty Hospital, Hyderabad, India.
authors: Limmy Loret
authors: LL
authors: Lobo
authors: Department of Clinical Pharmacology and Therapeutics, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, India.
authors: Vijay Kumar
authors: VK
authors: Kutala
authors: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors: Kumarasamy
authors: K
authors: Thangaraj
mesh_terms: D000368:Aged; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics*; D008076:Cholesterol, HDL / Q000378:metabolism; D003324:Coronary Artery Disease / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020506:Untranslated Regions
chemical_list: C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D020506:Untranslated Regions