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Ethnicity Differences in Genetic Susceptibility to Ulcerative Colitis: A Comparison of Indian Asians and White Northern Europeans

Walker, David G. MD (Res), MRCP*; Williams, Horace R. T. PhD, MRCP*,†; Bancil, Aaron S. BSc, MBBS*; Rai, Pavanjit MSc*; Pantelidis, Panajiotis PhD, FRCP*; Chambers, John MD, FRCP; Kooner, Jaspal S. MD§; Sato, Hiroe PhD§; Orchard, Timothy R. MD, FRCP*,†

doi: 10.1097/01.MIB.0000437567.12067.e7
Original Basic Science Articles

Background: Studies in Caucasian populations have identified a number of genetic associations with ulcerative colitis (UC), but reports from other ethnic groups have been limited. Recent studies from India have reported an association with UC and a single polymorphism (SNP) in CARD15/NOD2 (SNP5, rs2066842), which has not been reported in Caucasian UC cohorts. In addition, strong genetic associations with SNPs in the HLA region have been reported in Indian UC populations. However, there have been no reports on the frequency of HLA class II alleles in Indian populations with inflammatory bowel disease to examine whether the associations differ from other ethnic populations.

Methods: Genotyping was performed for 137 Indian UC patients for HLA class II alleles (HLA-DRB1*1502 & HLA-DRB1*0103), IL23R (rs11209026), and CARD15/NOD2 (rs2066842). The genetic data were compared with 204 healthy Indian controls and 50 white European UC patients.

Results: The HLA-DRB1*0103 allele was absent in all Indian UC patients and controls in contrast to white European UC patients (9/50: 18%). The HLA-DRB1*1502 allele was significantly more frequent in the Indian UC cohort (29.2%) than controls (17.6%) (P = 0.04) and the allele was absent in the white European cohort. There were no significant differences in the frequency of the CARD15/NOD2 (rs2066842) variant or IL23R (rs11209026) between the different ethnic groups.

Conclusions: The HLA-DRB1*0103 allele is rare or absent in the Indian Asian population but HLA-DRB1*1502 is positively associated with UC. Further genetic studies in this population could provide valuable information and may help distinguish the degree of influence of genetic and environmental pathogenic factors.

Article first published online 18 October 2013

*Department of Medicine, Imperial College London, London, United Kingdom;

Department of Gastroenterology, Imperial College Healthcare Trust, St Mary's Hospital, London, United Kingdom;

Department of Epidemiology and Public Health, Imperial College London, London, United Kingdom; and

§National Heart and Lung Institute, Imperial College London, London, United Kingdom.

Reprints: David Grahame Walker, MD, Department of Gastroenterology, St Mary's Hospital, Praed Street, Imperial College London, London, United Kingdom, W2 1NY (e-mail:

This study was funded by the generous support of the Broad Medical Research Program (Grant IBD-0187) and St Mary's Paddington Charitable Trustees. D. G. Walker, H. R. T. Williams, and T. R. Orchard are grateful to the NIHR Biomedical Facility at Imperial College London for infrastructure support. The LOLIPOP study is supported by the National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre Imperial College Healthcare NHS Trust, the British Heart Foundation (SP/04/002), the Medical Research Council (G0700931), the Wellcome Trust (084723/Z/08/Z), and the NIHR (RP-PG-0407-10371).

The authors have no conflicts of interest to disclose.

Received May 11, 2013

Accepted September 06, 2013

© Crohn's & Colitis Foundation of America, Inc.
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