title: The K121Q polymorphism of ENPP1 and peripheral arterial disease.
abstract: The K121Q variant of the ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1) gene is associated with obesity, insulin resistance, and early myocardial infarction. Therefore, we hypothesized that the K121Q polymorphism might also be associated with an increased risk for peripheral arterial disease. Four hundred patients with peripheral arterial disease and 400 controls matched for sex and age (+/- 2 years) were genotyped cross-sectionally for the K121Q single nucleotide polymorphism of the ENPP1 gene. The frequency for the 121Q allele was 0.25 both in patients with peripheral arterial disease and in controls (P = 0.75). Subgroup analysis revealed association of the ENPP1 121QQ genotype with higher glycohemoglobin A1C levels (P = 0.001) and earlier onset of peripheral arterial disease (P = 0.003) in the cohort of nonsmokers. Whereas the K121Q genotype of the ENPP1 gene is not associated with presence of peripheral arterial disease in the whole Linz Peripheral Arterial Disease population, it is associated with type 2 diabetes mellitus and earlier onset of peripheral arterial disease in the subgroup of nonsmoking patients.
authors.affiliation: Department of Internal Medicine, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria. philipp.eller@i-med.ac.at
authors.forename: Philipp
authors.initials: P
authors.lastname: Eller
authors.forename: Wilfried
authors.initials: W
authors.lastname: Schgoer
authors.forename: Thomas
authors.initials: T
authors.lastname: Mueller
authors.forename: Ivan
authors.initials: I
authors.lastname: Tancevski
authors.forename: Egon
authors.initials: E
authors.lastname: Demetz
authors.forename: Kristina
authors.initials: K
authors.lastname: Duwensee
authors.forename: Andreas
authors.initials: A
authors.lastname: Ritsch
authors.forename: Meinhard
authors.initials: M
authors.lastname: Haltmayer
authors.forename: Josef R
authors.initials: JR
authors.lastname: Patsch
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006442:Glycated Hemoglobin / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D016491:Peripheral Vascular Diseases / Q000201:enzymology / Q000235:genetics*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics*; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects
chemical_list: D006442:Glycated Hemoglobin; D010727:Phosphoric Diester Hydrolases; D011755:Pyrophosphatases; C517652:hemoglobin A1c protein, human; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1