LDL-R AvaII and NcoI polymorphisms: an indirect risk factor for coronary heart disease among a Mendelian population of Delhi, India

Biochem Genet. 2010 Oct;48(9-10):807-15. doi: 10.1007/s10528-010-9361-0. Epub 2010 Jul 14.


AvaII and NcoI polymorphisms in the low-density lipoprotein receptor (LDL-R) gene are reported to alter cholesterol levels. Although found to be highly polymorphic worldwide, these mutations have not been validated in any Indian population. This case-control association study was conducted in an endogamous business community of Delhi. Blood samples from 100 cases and 100 age- and sex-matched controls belonging to the same ethnic group were subjected to biochemical and molecular analyses. Medical history and anthropometric measurements were taken from all the enrolled subjects. Linkage disequilibrium between the two polymorphisms was found to be significant (P = 0.0016). Significant variability was observed for the AvaII polymorphism among cases concerning waist-hip ratio, serum triglyceride, and low-density lipoprotein, which in turn was found to be associated with coronary heart disease.

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • Coronary Disease / enzymology
  • Coronary Disease / epidemiology
  • Coronary Disease / genetics*
  • Deoxyribonucleases, Type II Site-Specific / genetics*
  • Dietary Carbohydrates
  • Dietary Fats
  • Female
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • India / epidemiology
  • Lipid Metabolism / genetics
  • Logistic Models
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Receptors, LDL / genetics*
  • Sedentary Behavior


  • Dietary Carbohydrates
  • Dietary Fats
  • Receptors, LDL
  • endodeoxyribonuclease NcoI
  • Deoxyribonucleases, Type II Site-Specific
  • GGWCC-specific type II deoxyribonucleases