Replication Study of Ulcerative Colitis Risk Loci in a Lithuanian-Latvian Case-Control Sample

被引：13

作者：

Skieceviciene, Jurgita ^{[1
]}

Kiudelis, Gediminas ^{[2
]}

Ellinghaus, Eva ^{[3
]}

Balschun, Tobias ^{[3
]}

Jonaitis, Laimas V. ^{[2
]}

Zvirbliene, Aida ^{[1
,2
]}

Denapiene, Goda ^{[4
]}

Leja, Marcis ^{[5
]}

Pranculiene, Gitana ^{[6
]}

Kalibatas, Vytenis ^{[7
]}

Saadati, Hamidreza ^{[3
]}

Ellinghaus, David ^{[3
]}

Andersen, Vibeke ^{[8
,9
]}

Valantinas, Jonas ^{[4
]}

Irnius, Algimantas ^{[4
]}

Derovs, Aleksejs ^{[10
]}

Tamelis, Algimantas ^{[11
]}

Schreiber, Stefan ^{[3
]}

Kupcinskas, Limas ^{[1
,2
]}

Franke, Andre ^{[3
]}

机构：

[1] Lithuanian Univ Hlth Sci, Med Acad, Inst Digest Res, LT-44307 Kaunas, Lithuania

[2] Lithuanian Univ Hlth Sci, Med Acad, Dept Gastroenterol, LT-44307 Kaunas, Lithuania

[3] Univ Kiel, Inst Clin Mol Biol, Kiel, Germany

[4] Vilnius State Univ, Ctr Hepatol Gastroenterol & Dietet, Vilnius, Lithuania

[5] Digest Dis Ctr GASTRO, Riga, Latvia

[6] Lithuanian Univ Hlth Sci, Med Acad, Dept Children Dis, LT-44307 Kaunas, Lithuania

[7] Lithuanian Univ Hlth Sci, Med Acad, Dept Hlth Management, LT-44307 Kaunas, Lithuania

[8] Univ Southern Denmark, Inst Reg Hlth Res, Odense, Denmark

[9] Hosp Southern Jutland, Dept Med, Aabenraa, Denmark

[10] Riga Stradins Univ, Internal Dis Dept, Riga, Latvia

[11] Lithuanian Univ Hlth Sci, Med Acad, Dept Surg, LT-44307 Kaunas, Lithuania

来源：

INFLAMMATORY BOWEL DISEASES | 2013年 / 19卷 / 11期

关键词：

Lithuanian-Latvian; ulcerative colitis; single nucleotide polymorphisms; case-control; GENOME-WIDE ASSOCIATION; INFLAMMATORY-BOWEL-DISEASE; CROHNS-DISEASE; TYROSINE PHOSPHATASE; SUSCEPTIBILITY LOCI; SEQUENCE VARIANTS; GENETIC-VARIATION; MULTIPLE; IL23R; NOD2;

D O I：

10.1097/MIB.0b013e3182a3eaeb

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

Background: Differences between populations might be reflected in their different genetic risk maps to complex diseases, for example, inflammatory bowel disease. We here investigated the role of known inflammatory bowel disease-associated single nucleotide polymorphisms (SNPs) in a subset of patients with ulcerative colitis (UC) from the Northeastern European countries Lithuania and Latvia and evaluated possible epistatic interactions between these genetic variants. Methods: We investigated 77 SNPs derived from 5 previously published genome-wide association studies for Crohn's disease and UC. Our study panel comprised 444 Lithuanian and Latvian patients with UC and 1154 healthy controls. Single marker case-control association and SNP-SNP epistasis analyses were performed. Results: We found 14 SNPs tagging 9 loci, including 21q21.1, NKX2-3, MST1, the HLA region, 1p36.13, IL10, JAK2, ORMDL3, and IL23R, to be associated with UC. Interestingly, the association of UC with previously identified variants in the HLA region was not the strongest association in our study (P = 4.34 x 10(-3), odds ratio [OR] = 1.25), which is in contrast to all previously published studies. No association with any disease subphenotype was found. SNP-SNP interaction analysis showed significant epistasis between SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes and increased risk for UC (P = 1.64 x 10(-6), OR = 2.44). The association has been confirmed in the Danish study group (P = 0.04, OR = 3.25). Conclusions: We confirmed the association of the 9 loci (21q21.1, 1p36.13, NKX2-3, MST1, the HLA region, IL10, JAK2, ORMDL3, and IL23R) with UC in the Lithuanian-Latvian population. SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC.

引用

页码：2349 / 2355

页数：7

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