<i>PTPN1</i>polymorphisms are associated with total and low-density lipoprotein cholesterol

Bauer, Florianne; Charlotte, Onland-Moret N.; Niehoff, Anne G.; Elbers, Clara C.; Grobbee, Diederick E.; Wijmenga, Cisca; Schouw, Yvonne T. van der

doi:10.1097/hjr.0b013e32832d30c4

Cited by 9 publications

(5 citation statements)

References 26 publications

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“…The two SNPs that were significant only for survival to the age of 95 are locus rs6067484 in the PTPN1 gene, and rs4837525 located in the PAPPA gene. Information on both of these loci is scarce, with only minor A allele of rs6067484 being previously associated with higher levels of total plasma cholesterol and low-density lipoprotein (LDL) cholesterol in men [95].…”

Section: Plos Onementioning

confidence: 99%

“…However, both variants were reported as potential candidates affecting longevity in a paper by Dato et al which examined the association between SNP-SNP interactions and longevity [55]. rs6067484 is an intronic variant of the PTPN1 gene that encodes protein tyrosine phosphatase non-receptor type 1, a suppressor of insulin signalling pathways [95]. The PTPN1 gene is located in the q13.1-q13.2 area of chromosome 20, a region that is gained or amplified in several cancers [96].…”

Section: Plos Onementioning

confidence: 99%

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Genetic scores for predicting longevity in the Croatian oldest-old population

et al. 2023

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Longevity is a hallmark of successful ageing and a complex trait with a significant genetic component. In this study, 43 single nucleotide polymorphisms (SNPs) were chosen from the literature and genotyped in a Croatian oldest-old sample (85+ years, sample size (N) = 314), in order to determine whether any of these SNPs have a significant effect on reaching the age thresholds for longevity (90+ years, N = 212) and extreme longevity (95+ years, N = 84). The best models were selected for both survival ages using multivariate logistic regression. In the model for reaching age 90, nine SNPs explained 20% of variance for survival to that age, while the 95-year model included five SNPs accounting for 9.3% of variance. The two SNPs that showed the most significant association (p ≤ 0.01) with longevity were TERC rs16847897 and GHRHR rs2267723. Unweighted and weighted Genetic Longevity Scores (uGLS and wGLS) were calculated and their predictive power was tested. All four scores showed significant correlation with age at death (p ≤ 0.01). They also passed the ROC curve test with at least 50% predictive ability, but wGLS90 stood out as the most accurate score, with a 69% chance of accurately predicting survival to the age of 90.

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Section: Plos Onementioning

confidence: 99%

Section: Plos Onementioning

confidence: 99%

Genetic scores for predicting longevity in the Croatian oldest-old population

et al. 2023

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“…To begin with, the minor alleles of three tag SNPs of PTPN1 —rs6067484A/G, rs6020611A/G, and rs1060402A/G—and the major allele at rs3787348G/T have been associated with higher levels of total plasma cholesterol and low-density lipoprotein (LDL) cholesterol in men with a BMI below 26 kg/m 2 [59]. In a previous study, though, the same haplotype showed no effect on different measures of obesity, macronutrient intake, or eating behavior [60].…”

Section: Ptpn1mentioning

confidence: 99%

Variants of Insulin-Signaling Inhibitor Genes in Type 2 Diabetes and Related Metabolic Abnormalities

Lorenzo

Greco

Fiorentino

et al. 2013

International Journal of Genomics

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Insulin resistance has a central role in the pathogenesis of several metabolic diseases, including type 2 diabetes, obesity, glucose intolerance, metabolic syndrome, atherosclerosis, and cardiovascular diseases. Insulin resistance and related traits are likely to be caused by abnormalities in the genes encoding for proteins involved in the composite network of insulin-signaling; in this review we have focused our attention on genetic variants of insulin-signaling inhibitor molecules. These proteins interfere with different steps in insulin-signaling: ENPP1/PC-1 and the phosphatases PTP1B and PTPRF/LAR inhibit the insulin receptor activation; INPPL1/SHIP-2 hydrolyzes PI3-kinase products, hampering the phosphoinositide-mediated downstream signaling; and TRIB3 binds the serine-threonine kinase Akt, reducing its phosphorylation levels. While several variants have been described over the years for all these genes, solid evidence of an association with type 2 diabetes and related diseases seems to exist only for rs1044498 of the ENPP1 gene and for rs2295490 of the TRIB3 gene. However, overall the data recapitulated in this Review article may supply useful elements to interpret the results of novel, more technically advanced genetic studies; indeed it is becoming increasingly evident that genetic information on metabolic diseases should be interpreted taking into account the complex biological pathways underlying their pathogenesis.

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“…For example, three PTPN1 SNPs have been found to be associated with total cholesterol and LDL in a population of Dutch men [19]. Two PTPN1 SNPs were found to correlate with serum cholesterol and triglyceride levels in a normoglycaemic, nonobese French population [12].…”

Section: Genetics Of Ptpn1 and Human Obesitymentioning

confidence: 99%

The Genetics ofPTPN1and Obesity: Insights from Mouse Models of Tissue-Specific PTP1B Deficiency

Tsou

Bence

2012

Journal of Obesity

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The protein tyrosine phosphatase PTP1B is a negative regulator of both insulin and leptin signaling and is involved in the control of glucose homeostasis and energy expenditure. Due to its prominent role in regulating metabolism, PTP1B is a promising therapeutic target for the treatment of human obesity and type 2 diabetes. The PTP1B protein is encoded by the PTPN1 gene on human chromosome 20q13, a region that shows linkage with insulin resistance, type 2 diabetes, and obesity in human populations. In this paper, we summarize the genetics of the PTPN1 locus and associations with metabolic disease. In addition, we discuss the tissue-specific functions of PTP1B as gleaned from genetic mouse models.

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PTPN1polymorphisms are associated with total and low-density lipoprotein cholesterol

Abstract: Our results suggest that SNPs in the PTPN1 gene are associated with total plasma and LDL cholesterol levels.

Cited by 9 publications

References 26 publications

Genetic scores for predicting longevity in the Croatian oldest-old population

Genetic scores for predicting longevity in the Croatian oldest-old population

Variants of Insulin-Signaling Inhibitor Genes in Type 2 Diabetes and Related Metabolic Abnormalities

The Genetics ofPTPN1and Obesity: Insights from Mouse Models of Tissue-Specific PTP1B Deficiency

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