Association of IL18RAP and CCR3 with coeliac disease in the Spanish population

被引：13

作者：

Dema, B. ^{[1
]}

Martinez, A. ^{[1
]}

Fernandez-Arquero, M. ^{[1
]}

Maluenda, C. ^{[2
]}

Polanco, I. ^{[3
]}

de la Concha, E. G. ^{[1
]}

Urcelay, E. ^{[1
]}

Nunez, C. ^{[1
]}

机构：

[1] Hosp Clin San Carlos, Serv Inmunol Clin, Madrid 28040, Spain

[2] Hosp Clin San Carlos, Serv Pediat, Madrid 28040, Spain

[3] Hosp La Paz, Serv Gastroenterol Pediat, Madrid, Spain

来源：

JOURNAL OF MEDICAL GENETICS | 2009年 / 46卷 / 09期

关键词：

RISK VARIANTS; SUSCEPTIBILITY; POLYMORPHISMS; GENES;

D O I：

10.1136/jmg.2009.067041

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Background and aims: Genome-wide association studies in coeliac disease ( CD) have resulted in the finding of eight new genetic regions associated with disease susceptibility. However, a replication study performed in the Italian population could not confirm two of those new regions: 2q12 (IL18RAP) and 3p21 (CCR3). The aim of this study was to investigate the role of those regions in CD risk in a different Mediterranean population, the Spanish population. Methods: A case-control study with 722 patients with CD and 794 ethnically matched healthy controls was performed. Two single-nucleotide polymorphisms, rs917997 (2q12) and rs6441961 (3p21), were genotyped and their genetic frequencies were compared between both groups using the chi(2) test. Results: An association was found with rs6441961 (p = 0.0004, OR = 1.32, 95% CI 1.13 to 1.54). A non-significant result (but concordant with the initial study) was obtained for rs917997. Conclusion: The association of the 3p21 genetic region with CD susceptibility in the Spanish population was confirmed. In 2q12, the initially described OR is most probably overestimated and therefore the real situation may be the existence of a genuine but weak risk factor, which generates statistical power limitations.

引用

页码：617 / 619

页数：3

共 13 条

[1]

Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease [J].

Breunis, W. B. ;

Biezeveld, M. H. ;

Geissler, J. ;

Kuipers, I. M. ;

Lam, J. ;

Ottenkamp, J. ;

Hutchinson, A. ;

Welch, R. ;

Chanock, S. J. ;

Kuijpers, T. W. .

CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2007, 150 (01) :83-90

[2]

Newly identified genetic risk variants for celiac disease related to the immune response [J].

Hunt, Karen A. ;

Zhernakova, Alexandra ;

Turner, Graham ;

Heap, Graham A. R. ;

Franke, Lude ;

Bruinenberg, Marcel ;

Romanos, Jihane ;

Dinesen, Lotte C. ;

Ryan, Anthony W. ;

Panesar, Davinder ;

Gwilliam, Rhian ;

Takeuchi, Fumihiko ;

McLaren, William M. ;

Holmes, Geoffrey K. T. ;

Howdle, Peter D. ;

Walters, Julian R. F. ;

Sanders, David S. ;

Playford, Raymond J. ;

Trynka, Gosia ;

Mulder, Chris J. J. ;

Mearin, M. Luisa ;

Verbeek, Wieke H. M. ;

Trimble, Valerie ;

Stevens, Fiona M. ;

O'Morain, Colm ;

Kennedy, Nicholas P. ;

Kelleher, Dermot ;

Pennington, Daniel J. ;

Strachan, David P. ;

McArdle, Wendy L. ;

Mein, Charles A. ;

Wapenaar, Martin C. ;

Deloukas, Panos ;

McGinnis, Ralph ;

McManus, Ross ;

Wijmenga, Cisca ;

van Heel, David A. .

NATURE GENETICS, 2008, 40 (04) :395-402

[3]

Association study of the IL18RAP locus in three European populations with coeliac disease [J].

Koskinen, Lotta L. E. ;

Einarsdottir, Elisabet ;

Dukes, Emma ;

Heap, Graham A. R. ;

Dubois, Patrick ;

Korponay-Szabo, Ilma R. ;

Kaukinen, Katri ;

Kurppa, Kalle ;

Ziberna, Fabiana ;

Vatta, Serena ;

Not, Tarcisio ;

Ventura, Alessandro ;

Sistonen, Pertti ;

Adany, Roza ;

Pocsai, Zsuzsa ;

Szeles, Gyoergy ;

Maki, Markku ;

Kere, Juha ;

Wijmenga, Cisca ;

van Heel, David A. ;

Saavalainen, Paivi .

HUMAN MOLECULAR GENETICS, 2009, 18 (06) :1148-1155

[4]

Gliadin induces an increase in intestinal permeability and zonulin release by binding to the chemokine receptor CXCR3 [J].

Lammers, Karen M. ;

Lu, Ruliang ;

Brownley, Julie ;

Lu, Bao ;

Gerard, Craig ;

Thomas, Karen ;

Rallabhandi, Prasad ;

Shea-Donohue, Terez ;

Tamiz, Amir ;

Alkan, Sefik ;

Netzel-Arnett, Sarah ;

Antalis, Toni ;

Vogel, Stefanie N. ;

Fasano, Alessio .

GASTROENTEROLOGY, 2008, 135 (01) :194-204

[5]

CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus [J].

Mamtani, M. ;

Rovin, B. ;

Brey, R. ;

Camargo, J. F. ;

Kulkarni, H. ;

Herrera, M. ;

Correa, P. ;

Holliday, S. ;

Anaya, J-M ;

Ahuja, S. K. .

ANNALS OF THE RHEUMATIC DISEASES, 2008, 67 (08) :1076-1083

[6]

Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis [J].

McKinney, C. ;

Merriman, M. E. ;

Chapman, P. T. ;

Gow, P. J. ;

Harrison, A. A. ;

Highton, J. ;

Jones, P. B. B. ;

McLean, L. ;

O'Donnell, J. L. ;

Pokorny, V. ;

Spellerberg, M. ;

Stamp, L. K. ;

Willis, J. ;

Steer, S. ;

Merriman, T. R. .

ANNALS OF THE RHEUMATIC DISEASES, 2008, 67 (03) :409-413

[7]

Genotypes and haplotypes of CCR2 and CCR3 genes in Japanese cedar pollinosis [J].

Nakamura, Hiroyuki ;

Higashikawa, Fumiko ;

Nobukuni, Yoshitaka ;

Miyagawa, Kiyoshi ;

Endo, Tomohiko ;

Imai, Toru ;

Hatta, Kotaro ;

Ozasa, Kotaro ;

Motohashi, Yutaka ;

Matsuzaki, Ichiyo ;

Sasahara, Shinichiro ;

Ogino, Keiki ;

Akimaru, Kunihiro ;

Eboshida, Akira .

INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY, 2007, 142 (04) :329-334

[8]

Chemokines in inflammatory bowel disease [J].

Papadakis, KA .

CURRENT ALLERGY AND ASTHMA REPORTS, 2004, 4 (01) :83-89

[9]

Association of IL1RL1, IL18R1, and IL18RAP gene cluster polymorphisms with asthma and atopy [J].

Reijmerink, Naomi E. ;

Postma, Dirkje S. ;

Bruinenberg, Marcel ;

Nolte, Ilja M. ;

Meyers, Deborah A. ;

Bleecker, Eugene R. ;

Koppelman, Gerard H. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2008, 122 (03) :651-654

[10]

Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease [J].

Romanos, J. ;

Barisani, D. ;

Trynka, G. ;

Zhernakova, A. ;

Bardella, M. T. ;

Wijmenga, C. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (01) :60-63

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