The association of PC-1 (ENPP1) K121Q polymorphism with metabolic syndrome in patients with coronary heart disease

Tasić, I.; Milojkovic, Maja; Sunder‐Plaßmann, Raute; Lazarević, Gordana; Tasić, Nataša Miladinović; Stefanović, Vladisav

doi:10.1016/j.cca.2006.10.003

Cited by 23 publications

(12 citation statements)

References 17 publications

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“…The risk of hyperglycaemia was 32% higher in carriers of the IRS-1 polymorphism, independently of age and BMI, which are well-known risk factors. On the other hand, the ENPP1 121Gln polymorphism seems to determine insulin resistance by a different mechanism, as it was associated with lower HDL values, a sensitive marker of hepatic insulin resistance,32 33 and with higher BMI and waist circumference. Interestingly, the ENPP1 121Gln allele has previously been reported to predispose to obesity, possibly by altering appetite control via insulin resistance in the hypothalamus 34…”

Section: Discussionmentioning

confidence: 99%

Genetic variants regulating insulin receptor signalling are associated with the severity of liver damage in patients with non-alcoholic fatty liver disease

Dongiovanni¹,

Valenti

Rametta³

et al. 2010

Gut

159

116

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Section: Discussionmentioning

confidence: 99%

Genetic variants regulating insulin receptor signalling are associated with the severity of liver damage in patients with non-alcoholic fatty liver disease

Dongiovanni¹,

Valenti

Rametta³

et al. 2010

Gut

159

116

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“…The plasma cell membrane glycoprotein, plasma cell antigen-1 (PC-1), is a type II transmembrane glycoprotein associated with the insulin receptor on the cell surface and inhibits insulin signaling 11. It has been reported that PC-1 is significantly associated with progression of NAFLD 12…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Biomarkers in Egyptian Patients with Different Grades of Nonalcoholic Fatty Liver Disease

Borai¹,

Shaker²,

Kamal³

et al. 2017

Journal of Clinical and Translational Hepatology

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Background and Aims: Nonalcoholic fatty liver disease (NAFLD) is a silent disease; its spectrum includes simple steatosis, nonalcoholic steatohepatitis and fibrosis. Pro- and anti-inflammatory cytokines play roles in the pathogenesis of NAFLD and insulin resistance (IR). Moreover, plasma cell antigen-1 (PC-1) is related to IR and associated with NAFLD progression. Therefore, we aimed to detect biomarkers, ultrasonographic and anthropometric findings capable of differentiating NAFLD grades, since most previous investigators were concerned more with NAFLD patients without classifying them into grades.Methods: A total of 87 NAFLD patients (31 with grade 1 (mild NAFLD), 26 with grade 2 (moderate NAFLD) and 30 with grade 3 (severe NAFLD) were included in the study, in addition to 47 controls (grade 0). All subjects underwent ultrasonographic examination for NAFLD diagnosis. Serum interleukin-10 (IL-10), plasma interleukin-18 (IL-18) and plasma PC-1 levels were determined using enzyme-linked immunosorbent assay.Results: Homoeostasis model assessment (HOMA)-IR was higher in different NAFLD grades than in controls. Ultrasonographic and anthropometric findings and lipid profile indices (except for high-density lipoprotein cholesterol, which was decreased) were increased with NAFLD progression. Grade 3 patients showed significant increase in levels of IL-18 and significant decrease in IL-10 and PC-1 levels when compared to grade 1 patients.Conclusion: Anthropometric and ultrasonographic findings were valuable in differentiating NAFLD grades. IR is very important in NAFLD pathogenesis. IL-18, HOMA-index and PC-1 levels could be used to differentiate between NAFLD grades, together with other measurements.

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“…ENPP1 was first described as a mediator of insulin resistance by Goldfine et al (1), and the K121Q variant was subsequently determined to be associated with insulin resistance in humans using euglycemic clamp studies (2). Variants in ENPP1, primarily K121Q, have shown positive associations with obesity and BMI (3)(4)(5), metabolic syndrome (6), and type 2 diabetes (3,7,8). Negative association results for these variants in large meta-analyses of Caucasian populations (9 -11) question the reproducibility of these positive findings, although a recent meta-analysis of Ͼ40,000 Caucasian individuals from 30 studies detected a modest association with 121Q under a recessive model (12).…”

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confidence: 99%

Association of the Distal Region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene With Type 2 Diabetes in an African-American Population Enriched for Nephropathy

et al. 2008

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OBJECTIVE-Variants in the ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1) gene have shown positive associations with diabetes and related phenotypes, including insulin resistance, metabolic syndrome, and type 1 diabetic nephropathy. Additionally, evidence for linkage for type 2 diabetes in African Americans was observed at 6q24-27, with the proximal edge of the peak encompassing the ENPP1 gene. Our objective was to comprehensively evaluate variants in ENPP1 for association with type 2 diabetic end-stage renal disease (ESRD).RESEARCH DESIGN AND METHODS-Forty-nine single nucleotide polymorphisms (SNPs) located in the coding and flanking regions of ENPP1 were genotyped in 577 African-American individuals with type 2 diabetic ESRD and 596 African-American control subjects. Haplotypic association and genotypic association for the dominant, additive, and recessive models were tested by calculating a 2 statistic and corresponding P value. RESULTS-NineSNPs showed nominal evidence for association (P Ͻ 0.05) with type 2 diabetic ESRD in one or more genotypic model. The most significant associations were observed with rs7754586 (P ϭ 0.003 dominant model, P ϭ 0.0005 additive, and P ϭ 0.007 recessive), located in the 3Ј untranslated region, and an intron 24 SNP (rs1974201: P ϭ 0.004 dominant, P ϭ 0.0005 additive, and P ϭ 0.005 recessive). However, the extensively studied K121Q variant (rs1044498) did not reveal evidence for association with type 2 diabetic ESRD in this African-American population. T he ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, also referred to as plasma cell membrane glycoprotein (PC-1), spans over 83 kb and is located on chromosome 6q22-23. ENPP1 was first described as a mediator of insulin resistance by Goldfine et al. (1), and the K121Q variant was subsequently determined to be associated with insulin resistance in humans using euglycemic clamp studies (2). Variants in ENPP1, primarily K121Q, have shown positive associations with obesity and BMI (3-5), metabolic syndrome (6), and type 2 diabetes (3,7,8). Negative association results for these variants in large meta-analyses of Caucasian populations (9 -11) question the reproducibility of these positive findings, although a recent meta-analysis of Ͼ40,000 Caucasian individuals from 30 studies detected a modest association with 121Q under a recessive model (12). CONCLUSIONS-ThisThree previous association studies of the ENPP1 gene in populations of African descent, two in African Americans (5,13) and one in Afro-Caribbeans from the Dominican Republic (14), have focused exclusively on associations with the K121Q variant. These studies found a much higher frequency of the 121Q allele (74 -78% in African Americans and 54.2% Dominicans) than that observed in other populations, and two of the three studies found an association with type 2 diabetes (13,14) but the third did not (5). These equivocal results suggest that further examination of variants in the ENPP1 gene in additional populations with African ancestry is warranted.A...

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The association of PC-1 (ENPP1) K121Q polymorphism with metabolic syndrome in patients with coronary heart disease

Cited by 23 publications

References 17 publications

Genetic variants regulating insulin receptor signalling are associated with the severity of liver damage in patients with non-alcoholic fatty liver disease

Genetic variants regulating insulin receptor signalling are associated with the severity of liver damage in patients with non-alcoholic fatty liver disease

Evaluation of Biomarkers in Egyptian Patients with Different Grades of Nonalcoholic Fatty Liver Disease

Association of the Distal Region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene With Type 2 Diabetes in an African-American Population Enriched for Nephropathy

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