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HLA-C*01 is a Risk Factor for Crohn's Disease
Eun Suk Jung1, Jae Hee Cheon, Ji Hyun Lee
1*Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea; †Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea; ‡Department of Oral Biology, College of Dentistry, Yonsei University, Seoul, Korea; §Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea; ‖Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, Korea; Departments of ¶Laboratory Medicine, and **Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
This study identifies HLA-C*01 as a key genetic factor contributing to Crohn's disease (CD) susceptibility in the Korean population. Genetic variations in human leukocyte antigens (HLAs) and TNFSF15 are confirmed as important in CD pathogenesis.
Area of Science:
- Immunogenetics
- Gastroenterology
- Human Genetics
Background:
- Crohn's disease (CD) pathogenesis is linked to immune dysregulation in genetically susceptible individuals.
- Investigating CD-susceptibility genes involved in immune responses is crucial.
Purpose of the Study:
- To identify genetic factors associated with Crohn's disease (CD) in a Korean population.
- To examine the role of human leukocyte antigens (HLAs) and killer cell immunoglobulin-like receptors (KIRs) in CD susceptibility.
Main Methods:
- Genome-wide association study (GWAS) in 275 CD patients and 2369 controls.
- Replication genotyping in a separate cohort (242 CD patients, 1066 controls).
- High-resolution genotyping of HLA and KIR genes.
Main Results:
- Four susceptibility loci identified, including TNFSF15 and three HLA regions.
- rs114985235 (between HLA-B and HLA-C) showed the strongest association with increased CD risk (OR=2.25).
- HLA-C*01 was identified as the specific HLA allotype responsible for CD association in the Korean population.
Conclusions:
- HLA-C*01 is a significant CD-susceptibility allotype in Koreans.
- Genetic variations in immune response genes like HLAs and TNFSF15 are critical host factors in CD pathogenesis.
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