Polimorfismo K121Q do gene ENPP1 e cardiopatia isquêmica em pacientes com diabete melito

Moehlecke, Milene; Kramer, Caroline; Leitão, Cristiane Bauermann; Krahe, Ana L. D.; Balbosco, Ivaldir; Azevedo, Mirela Jobim de; Gross, Jorge Luiz; Canani, Luís Henrique Santos

doi:10.1590/s0066-782x2010000200005

Arq. Bras. Cardiol.

2010

DOI: 10.1590/s0066-782x2010000200005

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Polimorfismo K121Q do gene ENPP1 e cardiopatia isquêmica em pacientes com diabete melito

Milene Moehlecke¹,

Caroline Kramer²,

Cristiane Bauermann Leitão³

et al.

Abstract: SummaryBackground: The ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a candidate gene for insulin resistance. Insulin resistance is a major component of metabolic syndrome (MetS) and has been implicated in ischemic heart disease (IHD).

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Cited by 6 publications

(1 citation statement)

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“…This variant has been associated with insulin resistance in most (22,25–27) but not all (28) large studies. In agreement with the hypothesis of a common genetic “soil” between insulin resistance and CVD, the Q121 variant has been also associated with atherosclerosis-related phenotypes in European (24,29,30) but not in Brazilian (31) or in Chinese (32) samples. Most of these associations have been mainly observed among heavier individuals (25–27,30,33), thereby suggesting a gene-by-adiposity interaction.…”

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confidence: 79%

The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals

et al. 2011

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OBJECTIVEInsulin resistance (IR) and cardiovascular disease may share a common genetic background. We investigated the role of IR-associated ENPP1 K121Q polymorphism (rs1044498) on cardiovascular disease in high-risk individuals.RESEARCH DESIGN AND METHODSA prospective study (average follow-up, 37 months) was conducted for major cardiovascular events (myocardial infarction [MI], stroke, cardiovascular death) from the Gargano Heart Study (GHS; n = 330 with type 2 diabetes and coronary artery disease), the Tor Vergata Atherosclerosis Study (TVAS; n = 141 who had MI), and the Cardiovascular Risk Extended Evaluation in Dialysis (CREED) database (n = 266 with end-stage renal disease). Age at MI was investigated in cross-sectional studies of 339 type 2 diabetic patients (n = 169 from Italy, n = 170 from the U.S.).RESULTSIncidence of cardiovascular events per 100 person--years was 4.2 in GHS, 10.8 in TVAS, and 11.7 in CREED. Hazard ratios (HRs) for KQ+QQ versus individuals carrying the K121/K121 genotype (KK) individuals were 1.47 (95% CI 0.80–2.70) in GHS, 2.31 (95% CI 1.22–4.34) in TVAS, and 1.36 (95% CI 0.88–2.10) in CREED, and 1.56 (95% CI 1.15–2.12) in the three cohorts combined. In the 395 diabetic patients, the Q121 variant predicted cardiovascular events among obese but not among nonobese individuals (HR 5.94 vs. 0.62, P = 0.003 for interaction). A similar synergism was observed in cross-sectional studies, with age at MI being 3 years younger in Q121 carriers than in KK homozygotes among obese but not among nonobese patients (P = 0.035 for interaction).CONCLUSIONSThe ENPP1 K121Q polymorphism is an independent predictor of major cardiovascular events in high-risk individuals. In type 2 diabetes, this effect is exacerbated by obesity. Future larger studies are needed to confirm our finding.

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confidence: 79%

The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals

et al. 2011

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Association of genetic polymorphism of PC‐1 gene (rs1044498 Lys121Gln) with insulin‐resistant type 2 diabetes mellitus in Punjabi Population of Pakistan

Albegali

Shahzad

Ullah

et al. 2019

Molec Gen & Gen Med

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Background Insulin resistance (IR), known to reduce the response to insulin action, develops with obesity leading to type 2 diabetes mellitus (T2DM). The PC‐1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. The objective of the present study was to investigate the genetic association of PC‐1 rs1044498 polymorphism with insulin resistance in type 2 diabetes in the Punjabi population of Pakistan. Methods This study was carried out on 161 healthy controls and 161 patients of T2DM with insulin resistance. Whole blood was collected for DNA extraction and molecular studies. PCR‐RFLP with AvaII was performed to determine the genotype in cases and controls. Chi‐square and Hardy Weinberg analyses were carried out. Statistical analysis was performed by SPSS software. Results The demographic data of cases and controls showed significant differences for different parameters like glucose, insulin, Homeostatic model assessment‐insulin resistance (HOMA‐IR) and lipid profiles (p < 0.000). Different statistical models revealed that all the dominant models were found associated in between alleles for disease risk (p < 0.001) while no association of PC‐1 rs1044498 (K121Q) polymorphism was found with insulin‐resistant parameters in T2DM cases. Conclusion Overall, the results indicate that the K121Q polymorphism was not found associated with insulin resistance in type 2 diabetes in a Pakistani Punjabi population. This is the first‐ever report about the genotype of PC‐1 gene in this population.

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Association of Genetic Variants of MTHFR, ENPP1, and ADIPOQ with Myocardial Infarction in Egyptian Patients

Shaker

Ismail

2013

Cell Biochem Biophys

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The study aimed to investigate the association between MTHFR C677T, ENPP1 K121Q, and ADIPOQ 45 T/G gene polymorphisms and incidence of myocardial infarction (MI) in Egyptian patients. The study included 60 unrelated patients suffering from their first MI and 60 unrelated controls. Patients were recruited from Kasr-El Eini hospital, Cairo University. The previously mentioned polymorphisms were determined in all participants by PCR-RFLP. There was no significant difference in the distribution of genotypes and alleles of MTHFR C677T between groups. In contrast, significant difference was found in the distributions of genotypes and alleles of ENPP1 K121Q and ADIPOQ 45 T/G between MI patients and controls (P = 0.01, P = 0.004, P = 0.009, P = 0.001, respectively). Univariate analysis revealed that 121Q ENPP1 and 45 G ADIPOQ alleles were associated with the increased risk of MI (OR = 3; 95 % CI = 1.45-6.2; P = 0.004 and OR = 5.8; 95 % CI = 1.92-17.54; P = 0.001, respectively). The mutant homozygous genotypes of MTHFR, ENPP1, and ADIPOQ were more prevalent in diabetic hypertensive MI patients than it was among non-diabetic normotensive MI patients. Regarding the coagulation profile, INR (P = 0.009) and PC % (P = 0.022) were significantly different among the three genotypes of MTHFR C677T. The 677 T, 121 Q, and 45G variants were associated with MI in Egyptian patients; however, more studies are needed to determine the possible protective effect for these polymorphisms in our population.

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Polimorfismo K121Q do gene ENPP1 e cardiopatia isquêmica em pacientes com diabete melito

Abstract: SummaryBackground: The ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a candidate gene for insulin resistance. Insulin resistance is a major component of metabolic syndrome (MetS) and has been implicated in ischemic heart disease (IHD).

Cited by 6 publications

References 20 publications

The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals

The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals

Association of genetic polymorphism of PC‐1 gene (rs1044498 Lys121Gln) with insulin‐resistant type 2 diabetes mellitus in Punjabi Population of Pakistan

Association of Genetic Variants of MTHFR, ENPP1, and ADIPOQ with Myocardial Infarction in Egyptian Patients

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