Analysis of endothelial protein c receptor gene and metabolic profile in prader-willi syndrome and obese subjects

Maria F. Faienza, Annamaria Ventura, Rosaria Lauciello, Antonino Crinò, Letizia Ragusa, Luciano Cavallo, Sabrina Spera, Graziano Grugni

Research output: Contribution to journalArticle

Abstract

The endothelial protein C receptor (EPCR) has a critical role in the regulation of anticoagulant and anti-inflammatory functions of activated protein C (APC). Abnormalities in EPCR might be associated with an increased risk of thrombosis. In this respect, a 23 bp insertion in the exon 3 of the EPCR gene predicts a truncated protein which cannot bind APC. High levels of C-reactive protein (CRP), a strong predictor of cardiovascular events, are found both in the obese and in subjects with Prader-Willi syndrome (PWS). Several cardiovascular risk factors are already present in prepubertal PWS children, but it is uncertain which mechanism contributes to the increased risk of cardiovascular disease in PWS. We analyzed the distribution oF2 3 bp insertion in the EPCR gene in 81 overweight and obese PWS subjects, 52 adults and 29 children, and in 58 overweight and obese children and adolescents (controls). We found that 1/58 (1.7%) of the controls was heterozygous for the 23 bp insertion, while this mutation was never found in PWS subjects. Furthermore, we evaluated CRP levels, glucose, insulin, and lipid profile, and we found higher CRP values in PWS adults with respect to children with PWS and controls, and a better insulin sensitivity in all PWS subjects than in the controls. This study suggests that in PWS subjects there is no predisposition to develop thrombotic events in association with EPCR gene alteration and demonstrates substantial differences regarding metabolic and inflammatory profile between PWS and non-PWS obese children, with further impairment in adults with PWS.

Original languageEnglish
Pages (from-to)1866-1870
Number of pages5
JournalObesity
Volume20
Issue number9
DOIs
Publication statusPublished - Sep 2012

Fingerprint

Prader-Willi Syndrome
Metabolome
Protein C
Genes
Proteins
C-Reactive Protein
Insertional Mutagenesis
Anticoagulants
Insulin Resistance
Exons
Thrombosis
Anti-Inflammatory Agents
Cardiovascular Diseases

ASJC Scopus subject areas

  • Endocrinology
  • Medicine (miscellaneous)
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics

Cite this

Analysis of endothelial protein c receptor gene and metabolic profile in prader-willi syndrome and obese subjects. / Faienza, Maria F.; Ventura, Annamaria; Lauciello, Rosaria; Crinò, Antonino; Ragusa, Letizia; Cavallo, Luciano; Spera, Sabrina; Grugni, Graziano.

In: Obesity, Vol. 20, No. 9, 09.2012, p. 1866-1870.

Research output: Contribution to journalArticle

Faienza, Maria F. ; Ventura, Annamaria ; Lauciello, Rosaria ; Crinò, Antonino ; Ragusa, Letizia ; Cavallo, Luciano ; Spera, Sabrina ; Grugni, Graziano. / Analysis of endothelial protein c receptor gene and metabolic profile in prader-willi syndrome and obese subjects. In: Obesity. 2012 ; Vol. 20, No. 9. pp. 1866-1870.
@article{92a8c0266b824323b99245a3abbadecd,
title = "Analysis of endothelial protein c receptor gene and metabolic profile in prader-willi syndrome and obese subjects",
abstract = "The endothelial protein C receptor (EPCR) has a critical role in the regulation of anticoagulant and anti-inflammatory functions of activated protein C (APC). Abnormalities in EPCR might be associated with an increased risk of thrombosis. In this respect, a 23 bp insertion in the exon 3 of the EPCR gene predicts a truncated protein which cannot bind APC. High levels of C-reactive protein (CRP), a strong predictor of cardiovascular events, are found both in the obese and in subjects with Prader-Willi syndrome (PWS). Several cardiovascular risk factors are already present in prepubertal PWS children, but it is uncertain which mechanism contributes to the increased risk of cardiovascular disease in PWS. We analyzed the distribution oF2 3 bp insertion in the EPCR gene in 81 overweight and obese PWS subjects, 52 adults and 29 children, and in 58 overweight and obese children and adolescents (controls). We found that 1/58 (1.7{\%}) of the controls was heterozygous for the 23 bp insertion, while this mutation was never found in PWS subjects. Furthermore, we evaluated CRP levels, glucose, insulin, and lipid profile, and we found higher CRP values in PWS adults with respect to children with PWS and controls, and a better insulin sensitivity in all PWS subjects than in the controls. This study suggests that in PWS subjects there is no predisposition to develop thrombotic events in association with EPCR gene alteration and demonstrates substantial differences regarding metabolic and inflammatory profile between PWS and non-PWS obese children, with further impairment in adults with PWS.",
author = "Faienza, {Maria F.} and Annamaria Ventura and Rosaria Lauciello and Antonino Crin{\`o} and Letizia Ragusa and Luciano Cavallo and Sabrina Spera and Graziano Grugni",
year = "2012",
month = "9",
doi = "10.1038/oby.2011.349",
language = "English",
volume = "20",
pages = "1866--1870",
journal = "Obesity",
issn = "1930-7381",
publisher = "Wiley-Blackwell",
number = "9",

}

TY - JOUR

T1 - Analysis of endothelial protein c receptor gene and metabolic profile in prader-willi syndrome and obese subjects

AU - Faienza, Maria F.

AU - Ventura, Annamaria

AU - Lauciello, Rosaria

AU - Crinò, Antonino

AU - Ragusa, Letizia

AU - Cavallo, Luciano

AU - Spera, Sabrina

AU - Grugni, Graziano

PY - 2012/9

Y1 - 2012/9

N2 - The endothelial protein C receptor (EPCR) has a critical role in the regulation of anticoagulant and anti-inflammatory functions of activated protein C (APC). Abnormalities in EPCR might be associated with an increased risk of thrombosis. In this respect, a 23 bp insertion in the exon 3 of the EPCR gene predicts a truncated protein which cannot bind APC. High levels of C-reactive protein (CRP), a strong predictor of cardiovascular events, are found both in the obese and in subjects with Prader-Willi syndrome (PWS). Several cardiovascular risk factors are already present in prepubertal PWS children, but it is uncertain which mechanism contributes to the increased risk of cardiovascular disease in PWS. We analyzed the distribution oF2 3 bp insertion in the EPCR gene in 81 overweight and obese PWS subjects, 52 adults and 29 children, and in 58 overweight and obese children and adolescents (controls). We found that 1/58 (1.7%) of the controls was heterozygous for the 23 bp insertion, while this mutation was never found in PWS subjects. Furthermore, we evaluated CRP levels, glucose, insulin, and lipid profile, and we found higher CRP values in PWS adults with respect to children with PWS and controls, and a better insulin sensitivity in all PWS subjects than in the controls. This study suggests that in PWS subjects there is no predisposition to develop thrombotic events in association with EPCR gene alteration and demonstrates substantial differences regarding metabolic and inflammatory profile between PWS and non-PWS obese children, with further impairment in adults with PWS.

AB - The endothelial protein C receptor (EPCR) has a critical role in the regulation of anticoagulant and anti-inflammatory functions of activated protein C (APC). Abnormalities in EPCR might be associated with an increased risk of thrombosis. In this respect, a 23 bp insertion in the exon 3 of the EPCR gene predicts a truncated protein which cannot bind APC. High levels of C-reactive protein (CRP), a strong predictor of cardiovascular events, are found both in the obese and in subjects with Prader-Willi syndrome (PWS). Several cardiovascular risk factors are already present in prepubertal PWS children, but it is uncertain which mechanism contributes to the increased risk of cardiovascular disease in PWS. We analyzed the distribution oF2 3 bp insertion in the EPCR gene in 81 overweight and obese PWS subjects, 52 adults and 29 children, and in 58 overweight and obese children and adolescents (controls). We found that 1/58 (1.7%) of the controls was heterozygous for the 23 bp insertion, while this mutation was never found in PWS subjects. Furthermore, we evaluated CRP levels, glucose, insulin, and lipid profile, and we found higher CRP values in PWS adults with respect to children with PWS and controls, and a better insulin sensitivity in all PWS subjects than in the controls. This study suggests that in PWS subjects there is no predisposition to develop thrombotic events in association with EPCR gene alteration and demonstrates substantial differences regarding metabolic and inflammatory profile between PWS and non-PWS obese children, with further impairment in adults with PWS.

UR - http://www.scopus.com/inward/record.url?scp=84865617710&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84865617710&partnerID=8YFLogxK

U2 - 10.1038/oby.2011.349

DO - 10.1038/oby.2011.349

M3 - Article

C2 - 22193922

AN - SCOPUS:84865617710

VL - 20

SP - 1866

EP - 1870

JO - Obesity

JF - Obesity

SN - 1930-7381

IS - 9

ER -