title: Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population.
abstract: OBJECTIVE
  We investigated whether gene polymorphisms of Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and matrix metalloproteinase 3 (MMP3) are associated with increased vascular calcification in patients with type 2 diabetes (T2D) and evaluated whether serum MMP3 and osteoprotegerin (OPG) levels are related to calcification.
  
  
  METHODS
  This study included 464 subjects: 269 patients with T2D and 195 healthy controls in South Korea. We genotyped subjects for four single nucleotide polymorphisms (SNPs): ENPP1 K121Q, ENPP1 A/G+1044TGA, MMP3 -709A>G and MMP3 -1475G>A. The presence or absence of calcifications in the aortic arch was assessed by plain chest radiography.
  
  
  RESULTS
  The SNPs ENPP1 K121Q and MMP3 -709A>G showed significant associations with T2D (P=0.001 and P=0.004). The SNP ENPP1 K121Q showed a significant association with aortic arch calcification in T2D (P=0.036). Serum OPG levels were significantly higher in T2D patients than in the control group (P<0.001). However, serum MMP3 levels were significantly lower in T2D patients than in the control group (P<0.001).
  
  
  CONCLUSIONS
  Our study demonstrates that the ENPP1 K121Q and MMP3 -709A>G polymorphisms are associated with T2D, and that the ENPP1 Q allele is associated with increased aortic arch calcification in a Korean population.
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, South Korea.
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Yeon-Kyung
authors.initials: YK
authors.lastname: Choi
authors.forename: Hyun-Ae
authors.initials: HA
authors.lastname: Seo
authors.forename: Jae-Han
authors.initials: JH
authors.lastname: Jeon
authors.forename: Ji-Yun
authors.initials: JY
authors.lastname: Jeong
authors.forename: Seong-Su
authors.initials: SS
authors.lastname: Moon
authors.forename: Jung-Guk
authors.initials: JG
authors.lastname: Kim
authors.forename: Bo-Wan
authors.initials: BW
authors.lastname: Kim
authors.forename: Su-Won
authors.initials: SW
authors.lastname: Kim
authors.lastname: Min Yoo
authors.forename: Joon-Young
authors.initials: JY
authors.lastname: Kim
authors.forename: In-Kyu
authors.initials: IK
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D000704:Analysis of Variance; D001018:Aortic Diseases / Q000097:blood / Q000150:complications / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001823:Body Composition; D002114:Calcinosis / Q000097:blood / Q000150:complications / Q000235:genetics*; D016009:Chi-Square Distribution; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications / Q000235:genetics*; D004032:Diet; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D019278:Matrix Metalloproteinase 3 / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D053244:Osteoprotegerin / Q000097:blood; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011755:Pyrophosphatases / Q000235:genetics*; D012044:Regression Analysis; D056910:Republic of Korea
chemical_list: D053244:Osteoprotegerin; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; C511768:MMP3 protein, human; D019278:Matrix Metalloproteinase 3; D011755:Pyrophosphatases