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Genetic Polymorphism of Ectoenzyme Nucleotide Pyrophosphate Phosphodiesterase (ENPP1) and Susceptibility to Type 2 DM and Its Complications
Author(s) -
Hemimi Neveen Salah El Din,
Abd El Salam Mona Mahmoud,
Abd Elwahab Mahmoud A
Publication year - 2009
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.23.1_supplement.856.2
Subject(s) - genotype , type 2 diabetes , allele , medicine , endocrinology , missense mutation , haplotype , allele frequency , genetics , biology , gastroenterology , diabetes mellitus , gene , mutation
Background A functional missense DNA polymorphism in exon 4 of ENPP1 gene causes amino acid change from lysine to glutamine at codon 121 (K121Q). The Q variant of PC1 is associated with reduction of insulin receptor autophosphorylation and therefore a stronger inhibitor of insulin signaling. Aim To test the hypothesis that ENPP1 K121Q polymorphism is associated with type 2 DM and its complication. Methods 167 normal individual, 30 non‐complicated type 2 diabetic patients and 76 complicated type 2 diabetic patients were enrolled in the study. The ENPP1 K121Q genotypes were identified by RFLP‐PCR of peripheral blood DNA samples. Analysis of data was done by using SPSS program. Results Allele frequency for Q was 36.8% in the diabetic group compared to 26% in the control group. The carriers of XQ genotype (KQ and QQ) were at high risk of developing type 2 DM (OR= 1.8; 95% CI = 1.1‐2.9) when compared with the carrier of KK genotype. Furthermore they were at much higher risk of developing its complications (OR= 2.1; 95% CI=0.9‐4.9). Conclusion Q 121 allele is a genetic determinant of type 2 DM and related atherogenic phenotypes. Source of research support Dubai Medical College for Girls