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

• Published in: International Journal of Obesity 2006-02, Vol.30 (2), p.233-237
• Main Authors: Matsuoka, N, Patki, A, Tiwari, H K, Allison, D B, Johnson, S B, Gregersen, P K, Leibel, R L, Chung, W K
• Format: Article
• Language: English
• Subjects: Adult; African Americans; African Americans - genetics; Alleles; Biological and medical sciences; Body Mass Index; Cancer; Chi-Square Distribution; Diabetes; Diabetes Mellitus - ethnology; Diabetes Mellitus - genetics; Epidemiology; European Continental Ancestry Group - genetics; Female; Gene Frequency; Genetic aspects; Genetic polymorphisms; Genotype & phenotype; Glycoproteins; Health aspects; Health Promotion and Disease Prevention; Humans; Insulin; Internal Medicine; Logistic Models; Male; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Middle Aged; New York; Nutrition research; Obesity; Obesity, Morbid - ethnology; Obesity, Morbid - genetics; original-article; Pediatrics; Phosphodiesterases; Phosphoric Diester Hydrolases - genetics; Polymerase Chain Reaction - methods; Polymorphism; Polymorphism, Genetic; Prospective Studies; Public Health; Pyrophosphatases - genetics; Questionnaires; Regression analysis; Risk factors; Surgeons; Weight control; White people
• ISSN: 0307-0565; 1476-5497
• DOI: 10.1038/sj.ijo.0803132

Objective: To test for association of the e cto n ucleotide p yrophosphatase/ p hosphodiesterase 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/m 2 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.