NOD2/CARD15 in healthy relatives of IBD paients

V. Annese, A. Latiano, O. Palmieri, G. Lombardi, A. Andriulli

Research output: Contribution to journalArticle

Abstract

Background: Crohn's disease (CD) and Ulcerative Colitis (UC) are related chronic inflammatory disorders of the intestine (IBD) caused by a combination of genetic and environmental factors. Three polymorphisms within the NOD2/CARD15 gene are highly associated with CD, increasing the risk from 2 up to 44-fold, depending on the presence of one or two risk alleles. Aim of this study was to investigate the presence of two risk alleles on healthy relatives of IBD patients and prospectively follow them for possible development of IBD. Materials and Methods: Healthy relatives o f familial IBD patients were recruited in our Institution and across Italy in a multicenter study of the IG-IBD. One hundred and twenty one IBD families were identified and blood samples were obtained from 415 first-degree healthy relatives. Single nucleotide polymorphisms (SNPs) R702W, G908R, and L1007finsC of the CARD15 gene were investigated by multiplex pyrosequencing technique. Data obtained in 205 healthy controls (HC) were compared by chi-square or Fisher's test. Results: Ninety eight (28.7%) healthy relatives had o ne risk allele (HC 14.6%; p = 0.002, OR 2, C.I. 1-4), while 8 had two risk alleles (vs 0.5% of healthy controls; p = 0.01). All subjects were asymptomatic at the time of blood sample and record collections (between 1996 and 1999) and were further investigated with abdominal ultrasonography, blood chemistry and haemoccult test, after 5-8 years of follow-up. All were still asymptomatic with negative findings. Conclusions: Our study once again supports the importance of gene-gene and gene-environment interactions for the final development of interactions for the final development of the disease.

Original languageEnglish
Pages (from-to)33-36
Number of pages4
JournalEuropean Review for Medical and Pharmacological Sciences
Volume10
Issue number1
Publication statusPublished - Jan 2006

Fingerprint

Alleles
Crohn Disease
Genes
Gene-Environment Interaction
Ulcerative Colitis
Italy
Multicenter Studies
Intestines
Single Nucleotide Polymorphism
Ultrasonography

Keywords

  • CARD15
  • Crohn's disease
  • Inflammatory bowel disease
  • NOD2
  • Ulcerative colitis

ASJC Scopus subject areas

  • Pharmacology

Cite this

NOD2/CARD15 in healthy relatives of IBD paients. / Annese, V.; Latiano, A.; Palmieri, O.; Lombardi, G.; Andriulli, A.

In: European Review for Medical and Pharmacological Sciences, Vol. 10, No. 1, 01.2006, p. 33-36.

Research output: Contribution to journalArticle

@article{aa073e24ddb04073b426f827aa74e40a,
title = "NOD2/CARD15 in healthy relatives of IBD paients",
abstract = "Background: Crohn's disease (CD) and Ulcerative Colitis (UC) are related chronic inflammatory disorders of the intestine (IBD) caused by a combination of genetic and environmental factors. Three polymorphisms within the NOD2/CARD15 gene are highly associated with CD, increasing the risk from 2 up to 44-fold, depending on the presence of one or two risk alleles. Aim of this study was to investigate the presence of two risk alleles on healthy relatives of IBD patients and prospectively follow them for possible development of IBD. Materials and Methods: Healthy relatives o f familial IBD patients were recruited in our Institution and across Italy in a multicenter study of the IG-IBD. One hundred and twenty one IBD families were identified and blood samples were obtained from 415 first-degree healthy relatives. Single nucleotide polymorphisms (SNPs) R702W, G908R, and L1007finsC of the CARD15 gene were investigated by multiplex pyrosequencing technique. Data obtained in 205 healthy controls (HC) were compared by chi-square or Fisher's test. Results: Ninety eight (28.7{\%}) healthy relatives had o ne risk allele (HC 14.6{\%}; p = 0.002, OR 2, C.I. 1-4), while 8 had two risk alleles (vs 0.5{\%} of healthy controls; p = 0.01). All subjects were asymptomatic at the time of blood sample and record collections (between 1996 and 1999) and were further investigated with abdominal ultrasonography, blood chemistry and haemoccult test, after 5-8 years of follow-up. All were still asymptomatic with negative findings. Conclusions: Our study once again supports the importance of gene-gene and gene-environment interactions for the final development of interactions for the final development of the disease.",
keywords = "CARD15, Crohn's disease, Inflammatory bowel disease, NOD2, Ulcerative colitis",
author = "V. Annese and A. Latiano and O. Palmieri and G. Lombardi and A. Andriulli",
year = "2006",
month = "1",
language = "English",
volume = "10",
pages = "33--36",
journal = "European Review for Medical and Pharmacological Sciences",
issn = "1128-3602",
publisher = "Verduci Editore",
number = "1",

}

TY - JOUR

T1 - NOD2/CARD15 in healthy relatives of IBD paients

AU - Annese, V.

AU - Latiano, A.

AU - Palmieri, O.

AU - Lombardi, G.

AU - Andriulli, A.

PY - 2006/1

Y1 - 2006/1

N2 - Background: Crohn's disease (CD) and Ulcerative Colitis (UC) are related chronic inflammatory disorders of the intestine (IBD) caused by a combination of genetic and environmental factors. Three polymorphisms within the NOD2/CARD15 gene are highly associated with CD, increasing the risk from 2 up to 44-fold, depending on the presence of one or two risk alleles. Aim of this study was to investigate the presence of two risk alleles on healthy relatives of IBD patients and prospectively follow them for possible development of IBD. Materials and Methods: Healthy relatives o f familial IBD patients were recruited in our Institution and across Italy in a multicenter study of the IG-IBD. One hundred and twenty one IBD families were identified and blood samples were obtained from 415 first-degree healthy relatives. Single nucleotide polymorphisms (SNPs) R702W, G908R, and L1007finsC of the CARD15 gene were investigated by multiplex pyrosequencing technique. Data obtained in 205 healthy controls (HC) were compared by chi-square or Fisher's test. Results: Ninety eight (28.7%) healthy relatives had o ne risk allele (HC 14.6%; p = 0.002, OR 2, C.I. 1-4), while 8 had two risk alleles (vs 0.5% of healthy controls; p = 0.01). All subjects were asymptomatic at the time of blood sample and record collections (between 1996 and 1999) and were further investigated with abdominal ultrasonography, blood chemistry and haemoccult test, after 5-8 years of follow-up. All were still asymptomatic with negative findings. Conclusions: Our study once again supports the importance of gene-gene and gene-environment interactions for the final development of interactions for the final development of the disease.

AB - Background: Crohn's disease (CD) and Ulcerative Colitis (UC) are related chronic inflammatory disorders of the intestine (IBD) caused by a combination of genetic and environmental factors. Three polymorphisms within the NOD2/CARD15 gene are highly associated with CD, increasing the risk from 2 up to 44-fold, depending on the presence of one or two risk alleles. Aim of this study was to investigate the presence of two risk alleles on healthy relatives of IBD patients and prospectively follow them for possible development of IBD. Materials and Methods: Healthy relatives o f familial IBD patients were recruited in our Institution and across Italy in a multicenter study of the IG-IBD. One hundred and twenty one IBD families were identified and blood samples were obtained from 415 first-degree healthy relatives. Single nucleotide polymorphisms (SNPs) R702W, G908R, and L1007finsC of the CARD15 gene were investigated by multiplex pyrosequencing technique. Data obtained in 205 healthy controls (HC) were compared by chi-square or Fisher's test. Results: Ninety eight (28.7%) healthy relatives had o ne risk allele (HC 14.6%; p = 0.002, OR 2, C.I. 1-4), while 8 had two risk alleles (vs 0.5% of healthy controls; p = 0.01). All subjects were asymptomatic at the time of blood sample and record collections (between 1996 and 1999) and were further investigated with abdominal ultrasonography, blood chemistry and haemoccult test, after 5-8 years of follow-up. All were still asymptomatic with negative findings. Conclusions: Our study once again supports the importance of gene-gene and gene-environment interactions for the final development of interactions for the final development of the disease.

KW - CARD15

KW - Crohn's disease

KW - Inflammatory bowel disease

KW - NOD2

KW - Ulcerative colitis

UR - http://www.scopus.com/inward/record.url?scp=33644553484&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33644553484&partnerID=8YFLogxK

M3 - Article

C2 - 16494109

AN - SCOPUS:33644553484

VL - 10

SP - 33

EP - 36

JO - European Review for Medical and Pharmacological Sciences

JF - European Review for Medical and Pharmacological Sciences

SN - 1128-3602

IS - 1

ER -