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


METHODS
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.


CONCLUSIONS
In both Caucasians and African-Americans, the K121 polymorphism in ENPP1 was associated with increased BMI, but not with diabetes.
Matsuoka
N
N
Division of Molecular Genetics, Department of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Patki
A
A
Tiwari
H K
HK
Allison
D B
DB
Johnson
S B
SB
Gregersen
P K
PK
Leibel
R L
RL
Chung
W K
WK
D000328:Adult; D001741:Black or African American / Q000235:genetics*; D000483:Alleles; D015992:Body Mass Index; D016009:Chi-Square Distribution; D003920:Diabetes Mellitus / Q000208:ethnology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009518:New York; D009767:Obesity, Morbid / Q000208:ethnology / Q000235:genetics*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D011755:Pyrophosphatases / Q000235:genetics*; D044465:White People / Q000235:genetics*
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases