Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease study

Salvatore Ardizzone, Mario Cottone, Olivia Palmieri, Orazio Palmieri, Anna Latiano, Claudio Papi, Renata D'Incà, Fabiana Castiglione, Sandro Ardizzone, Paolo Gionchetti, Angelo Andriulli, Vito Annese, Maurizio Vecchi, Mario Cottone, Gabriele Riegler

Risultato della ricerca: Article

32 Citazioni (Scopus)

Abstract

Background. Three variants of the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn's disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn's disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of three main variants (R702W, G908R and 1007 fs): 152 patients were familial cases of Crohn's disease, 183 were healthy first-degree relatives, 180 were sporadic cases of Crohn's disease, and 216 were unrelated healthy subjects. Results. The frequency of the frameshift mutation (1007 fs) was significantly higher in both familial and sporadic cases of Crohn's disease (P = 0.000001), and healthy first-degree relatives (P = 0.0001) compared to controls. At least one risk allele was found in 44% of familial Crohn's disease patients, compared to 7% of healthy controls (OR = 4; CI = 2-6.5). Two risk alleles were found in 14% of familial Crohn's disease, compared to less than 1% of controls (OR = 26: CI = 4-129). Conclusions. Our data confirm the strong correlation between the 1007 fs variant and Crohn's disease, in both familial and sporadic cases. Moreover, no significant difference of allele frequencies was detected in familial cases, sporadic cases and healthy controls among different geographic areas of Italy.
Lingua originaleEnglish
pagine (da-a)121-124
Numero di pagine4
RivistaDigestive and Liver Disease
Volume36
Stato di pubblicazionePublished - 2004

All Science Journal Classification (ASJC) codes

  • Hepatology
  • Gastroenterology

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Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease study. / Ardizzone, Salvatore; Cottone, Mario; Palmieri, Olivia; Palmieri, Orazio; Latiano, Anna; Papi, Claudio; D'Incà, Renata; Castiglione, Fabiana; Ardizzone, Sandro; Gionchetti, Paolo; Andriulli, Angelo; Annese, Vito; Vecchi, Maurizio; Cottone, Mario; Riegler, Gabriele.

In: Digestive and Liver Disease, Vol. 36, 2004, pag. 121-124.

Risultato della ricerca: Article

Ardizzone, S, Cottone, M, Palmieri, O, Palmieri, O, Latiano, A, Papi, C, D'Incà, R, Castiglione, F, Ardizzone, S, Gionchetti, P, Andriulli, A, Annese, V, Vecchi, M, Cottone, M & Riegler, G 2004, 'Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease study', Digestive and Liver Disease, vol. 36, pagg. 121-124.
Ardizzone, Salvatore ; Cottone, Mario ; Palmieri, Olivia ; Palmieri, Orazio ; Latiano, Anna ; Papi, Claudio ; D'Incà, Renata ; Castiglione, Fabiana ; Ardizzone, Sandro ; Gionchetti, Paolo ; Andriulli, Angelo ; Annese, Vito ; Vecchi, Maurizio ; Cottone, Mario ; Riegler, Gabriele. / Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease study. In: Digestive and Liver Disease. 2004 ; Vol. 36. pagg. 121-124.
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title = "Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease study",
abstract = "Background. Three variants of the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn's disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn's disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of three main variants (R702W, G908R and 1007 fs): 152 patients were familial cases of Crohn's disease, 183 were healthy first-degree relatives, 180 were sporadic cases of Crohn's disease, and 216 were unrelated healthy subjects. Results. The frequency of the frameshift mutation (1007 fs) was significantly higher in both familial and sporadic cases of Crohn's disease (P = 0.000001), and healthy first-degree relatives (P = 0.0001) compared to controls. At least one risk allele was found in 44{\%} of familial Crohn's disease patients, compared to 7{\%} of healthy controls (OR = 4; CI = 2-6.5). Two risk alleles were found in 14{\%} of familial Crohn's disease, compared to less than 1{\%} of controls (OR = 26: CI = 4-129). Conclusions. Our data confirm the strong correlation between the 1007 fs variant and Crohn's disease, in both familial and sporadic cases. Moreover, no significant difference of allele frequencies was detected in familial cases, sporadic cases and healthy controls among different geographic areas of Italy.",
keywords = "CARD15; Crohn's disease; Genetics; Inflammatory bowel disease; NOD2",
author = "Salvatore Ardizzone and Mario Cottone and Olivia Palmieri and Orazio Palmieri and Anna Latiano and Claudio Papi and Renata D'Inc{\`a} and Fabiana Castiglione and Sandro Ardizzone and Paolo Gionchetti and Angelo Andriulli and Vito Annese and Maurizio Vecchi and Mario Cottone and Gabriele Riegler",
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volume = "36",
pages = "121--124",
journal = "Digestive and Liver Disease",
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TY - JOUR

T1 - Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease study

AU - Ardizzone, Salvatore

AU - Cottone, Mario

AU - Palmieri, Olivia

AU - Palmieri, Orazio

AU - Latiano, Anna

AU - Papi, Claudio

AU - D'Incà, Renata

AU - Castiglione, Fabiana

AU - Ardizzone, Sandro

AU - Gionchetti, Paolo

AU - Andriulli, Angelo

AU - Annese, Vito

AU - Vecchi, Maurizio

AU - Cottone, Mario

AU - Riegler, Gabriele

PY - 2004

Y1 - 2004

N2 - Background. Three variants of the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn's disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn's disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of three main variants (R702W, G908R and 1007 fs): 152 patients were familial cases of Crohn's disease, 183 were healthy first-degree relatives, 180 were sporadic cases of Crohn's disease, and 216 were unrelated healthy subjects. Results. The frequency of the frameshift mutation (1007 fs) was significantly higher in both familial and sporadic cases of Crohn's disease (P = 0.000001), and healthy first-degree relatives (P = 0.0001) compared to controls. At least one risk allele was found in 44% of familial Crohn's disease patients, compared to 7% of healthy controls (OR = 4; CI = 2-6.5). Two risk alleles were found in 14% of familial Crohn's disease, compared to less than 1% of controls (OR = 26: CI = 4-129). Conclusions. Our data confirm the strong correlation between the 1007 fs variant and Crohn's disease, in both familial and sporadic cases. Moreover, no significant difference of allele frequencies was detected in familial cases, sporadic cases and healthy controls among different geographic areas of Italy.

AB - Background. Three variants of the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn's disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn's disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of three main variants (R702W, G908R and 1007 fs): 152 patients were familial cases of Crohn's disease, 183 were healthy first-degree relatives, 180 were sporadic cases of Crohn's disease, and 216 were unrelated healthy subjects. Results. The frequency of the frameshift mutation (1007 fs) was significantly higher in both familial and sporadic cases of Crohn's disease (P = 0.000001), and healthy first-degree relatives (P = 0.0001) compared to controls. At least one risk allele was found in 44% of familial Crohn's disease patients, compared to 7% of healthy controls (OR = 4; CI = 2-6.5). Two risk alleles were found in 14% of familial Crohn's disease, compared to less than 1% of controls (OR = 26: CI = 4-129). Conclusions. Our data confirm the strong correlation between the 1007 fs variant and Crohn's disease, in both familial and sporadic cases. Moreover, no significant difference of allele frequencies was detected in familial cases, sporadic cases and healthy controls among different geographic areas of Italy.

KW - CARD15; Crohn's disease; Genetics; Inflammatory bowel disease; NOD2

UR - http://hdl.handle.net/10447/10530

M3 - Article

VL - 36

SP - 121

EP - 124

JO - Digestive and Liver Disease

JF - Digestive and Liver Disease

SN - 1590-8658

ER -