title: The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites.
abstract: This study investigated the role of the ENPP1/PC-1 gene K121Q polymorphism in predicting BMI (kg/m2) in non-diabetic individuals. Three independent samples (n = 631, n = 304, and n = 505) of adult whites were analyzed. Selection criteria were fasting plasma glucose level <126 mg/dL, absence of severe obesity (BMI > or =40 kg/m2), and lack of treatment known to modulate BMI. In Sample 1, BMI values were different in individuals carrying the K121/K121 (KK), K121/Q121 (KQ), and Q121/Q121 (QQ) genotypes (25.5 +/- 4.3, 25.3 +/- 4.1, and 22.8 +/- 2.5 kg/m2, respectively (adjusted p = 0.022); BMI values in Samples 2 and 3 also tended to be different, although the differences, after adjustment for age and sex, did not reach statistical significance. When data were pooled, BMI values were 25.8 +/- 4.4, 25.6 +/- 4.4, and 23.6 +/- 3.3 kg/m2 in KK, KQ, and QQ individuals (adjusted p = 0.029). According to a recessive model, QQ individuals had lower BMI values than KK and KQ individuals combined (23.6 +/- 3.3 kg/m2 vs. 25.7 +/- 4.4 kg/m2; adjusted p = 0.008). These data suggest that the QQ genotype of the ENPP1/PC-1 gene is associated with lower BMI. If similar results are confirmed in prospective studies, the K121Q polymorphism may help identify people at risk for obesity.
authors.affiliation: Unit of Diabetes and Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Prudente
authors.forename: Manisha
authors.initials: M
authors.lastname: Chandalia
authors.forename: Eleonora
authors.initials: E
authors.lastname: Morini
authors.forename: Roberto
authors.initials: R
authors.lastname: Baratta
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Nicola
authors.initials: N
authors.lastname: Abate
authors.forename: Lucia
authors.initials: L
authors.lastname: Frittitta
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Trischitta
mesh_terms: D000328:Adult; D015992:Body Mass Index; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D009765:Obesity / Q000235:genetics*; D009767:Obesity, Morbid / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011110:Polymorphism, Genetic; D011755:Pyrophosphatases / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases