Association of K121Q polymorphism in ENPP1 (PC-1) with BMI in Caucasian and African-American adults

Int J Obes (Lond). 2006 Feb;30(2):233-7. doi: 10.1038/sj.ijo.0803132.


Objective: To test for association of the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) K121Q polymorphism with body mass index (BMI) and diabetes in a large sample of Caucasians and African-Americans by selectively genotyping individuals at the extremes of the phenotypic distribution.

Subjects: Subsets comprising the extremes of the BMI distribution (10th-20th and above the 90th BMI percentile for Caucasians and between the 10th-30th and above the 80th percentile for African-Americans) from a group of 10,260 Caucasian and 2268 African-American adults participating in New York Cancer Project were studied.

Methods: Subjects were genotyped for the ENPP1 K121Q polymorphism by pyrosequencing and tested for association with BMI and diabetes by regression analysis.

Results: Regression analysis with BMI as the dependent variable demonstrated a significant association (P = 0.02) of genotype at K121Q with BMI, with no significant race-by-genotype interaction (P = 0.30). Compared with Q/Q or Q/K individuals, the K/K individuals had a BMI approximately 1.3 kg/m2 higher, without effects of age, gender or race. By logistic regression analysis, the K121Q alleles had no significant effect on diabetes status (P = 0.37) in obese subjects.

Conclusion: In both Caucasians and African-Americans, the K121 polymorphism in ENPP1 was associated with increased BMI, but not with diabetes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • African Americans / genetics*
  • Alleles
  • Body Mass Index
  • Chi-Square Distribution
  • Diabetes Mellitus / ethnology
  • Diabetes Mellitus / genetics
  • Female
  • Gene Frequency
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • New York
  • Obesity, Morbid / ethnology
  • Obesity, Morbid / genetics*
  • Phosphoric Diester Hydrolases / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Prospective Studies
  • Pyrophosphatases / genetics*
  • Whites / genetics*


  • Phosphoric Diester Hydrolases
  • ectonucleotide pyrophosphatase phosphodiesterase 1
  • Pyrophosphatases