Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

Amarjit Parmar; Anne Maarit Lappalainen; Anu Liisa Paulina Paavola-Sakki; Leena Halme; Martti Antero Färkkilä; Ulla Turunen; Kimmo Kontula; A Aromaa; V Salomaa; Leena Palotie; J Halfvarson; L Törkvist; Mauro D´Amato; Päivi Marjaana Saavalainen; Elisabet Einarsdottir

doi:10.1038/gene.2012.21

Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

Amarjit Parmar, Anne Maarit Lappalainen, Anu Liisa Paulina Paavola-Sakki, Leena Halme, Martti Antero Färkkilä, Ulla Turunen, Kimmo Kontula, A Aromaa, V Salomaa, Leena Palotie, J Halfvarson, L Törkvist, Mauro D´Amato, Päivi Marjaana Saavalainen, Elisabet Einarsdottir

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Sammanfattning

Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigated
whether the known susceptibility loci for celiac disease (CelD) also associate with Crohn’s disease (CD) and/or ulcerative colitis (UC),
the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in a
Finnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes was
tested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associated
with CD and/or UC (Po0.05). In the subphenotype analysis, rs6974491-ELMO1 (P¼0.0002, odds ratio (OR): 2.20) and rs2298428-
UBE2L3 (P¼5.44105, OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG
(P¼0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P¼7.40105, OR: 0.61),
rs6974491-ELMO1 (P¼0.00052, OR: 1.73) and rs4819388-ICOSLG (P¼0.00019, OR: 0.75) associated with familial UC, pediatric UC
and sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedish
populations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype.

Originalspråk	engelska
Tidskrift	Genes and Immunity
Volym	13
Nummer	6
Sidor (från-till)	474-480
Antal sidor	7
ISSN	1466-4879
DOI	https://doi.org/10.1038/gene.2012.21
Status	Publicerad - 2012
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Bibliografisk information

WOS:000308455000006

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
3121 Allmänmedicin, inre medicin och annan klinisk medicin

Åtkomst av dokument

10.1038/gene.2012.21

Citera det här

Parmar, A., Lappalainen, A. M., Paavola-Sakki, A. L. P., Halme, L., Färkkilä, M. A., Turunen, U., Kontula, K., Aromaa, A., Salomaa, V., Palotie, L., Halfvarson, J., Törkvist, L., D´Amato, M., Saavalainen, P. M., & Einarsdottir, E. (2012). Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients. Genes and Immunity, 13(6), 474-480. https://doi.org/10.1038/gene.2012.21

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title = "Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients",

abstract = "Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigatedwhether the known susceptibility loci for celiac disease (CelD) also associate with Crohn{\textquoteright}s disease (CD) and/or ulcerative colitis (UC),the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in aFinnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes wastested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associatedwith CD and/or UC (Po0.05). In the subphenotype analysis, rs6974491-ELMO1 (P¼0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P¼5.44105, OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG(P¼0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P¼7.40105, OR: 0.61),rs6974491-ELMO1 (P¼0.00052, OR: 1.73) and rs4819388-ICOSLG (P¼0.00019, OR: 0.75) associated with familial UC, pediatric UCand sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedishpopulations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype.",

keywords = "3111 Biomedicine, 3121 General medicine, internal medicine and other clinical medicine",

author = "Amarjit Parmar and Lappalainen, {Anne Maarit} and Paavola-Sakki, {Anu Liisa Paulina} and Leena Halme and F{\"a}rkkil{\"a}, {Martti Antero} and Ulla Turunen and Kimmo Kontula and A Aromaa and V Salomaa and Leena Palotie and J Halfvarson and L T{\"o}rkvist and Mauro D´Amato and Saavalainen, {P{\"a}ivi Marjaana} and Elisabet Einarsdottir",

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Parmar, A, Lappalainen, AM, Paavola-Sakki, ALP, Halme, L, Färkkilä, MA, Turunen, U, Kontula, K, Aromaa, A, Salomaa, V, Palotie, L, Halfvarson, J, Törkvist, L, D´Amato, M, Saavalainen, PM & Einarsdottir, E 2012, 'Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients', Genes and Immunity, vol. 13, nr. 6, s. 474-480. https://doi.org/10.1038/gene.2012.21

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T1 - Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

AU - Parmar, Amarjit

AU - Lappalainen, Anne Maarit

AU - Paavola-Sakki, Anu Liisa Paulina

AU - Halme, Leena

AU - Färkkilä, Martti Antero

AU - Turunen, Ulla

AU - Kontula, Kimmo

AU - Aromaa, A

AU - Salomaa, V

AU - Palotie, Leena

AU - Halfvarson, J

AU - Törkvist, L

AU - D´Amato, Mauro

AU - Saavalainen, Päivi Marjaana

AU - Einarsdottir, Elisabet

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N2 - Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigatedwhether the known susceptibility loci for celiac disease (CelD) also associate with Crohn’s disease (CD) and/or ulcerative colitis (UC),the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in aFinnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes wastested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associatedwith CD and/or UC (Po0.05). In the subphenotype analysis, rs6974491-ELMO1 (P¼0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P¼5.44105, OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG(P¼0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P¼7.40105, OR: 0.61),rs6974491-ELMO1 (P¼0.00052, OR: 1.73) and rs4819388-ICOSLG (P¼0.00019, OR: 0.75) associated with familial UC, pediatric UCand sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedishpopulations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype.

AB - Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigatedwhether the known susceptibility loci for celiac disease (CelD) also associate with Crohn’s disease (CD) and/or ulcerative colitis (UC),the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in aFinnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes wastested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associatedwith CD and/or UC (Po0.05). In the subphenotype analysis, rs6974491-ELMO1 (P¼0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P¼5.44105, OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG(P¼0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P¼7.40105, OR: 0.61),rs6974491-ELMO1 (P¼0.00052, OR: 1.73) and rs4819388-ICOSLG (P¼0.00019, OR: 0.75) associated with familial UC, pediatric UCand sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedishpopulations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype.

KW - 3111 Biomedicine

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.1038/gene.2012.21

DO - 10.1038/gene.2012.21

M3 - Article

SN - 1466-4879

VL - 13

SP - 474

EP - 480

JO - Genes and Immunity

JF - Genes and Immunity

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ER -