PMID- 36415137 OWN - NLM STAT- MEDLINE DCOM- 20230424 LR - 20230503 IS - 1502-7708 (Electronic) IS - 0036-5521 (Linking) VI - 58 IP - 5 DP - 2023 May TI - HLA-DQ genotype distribution and risk evaluation of celiac disease in Northwest China. PG - 471-476 LID - 10.1080/00365521.2022.2147801 [doi] AB - BACKGROUND: Celiac disease (CD) is an autoimmune small bowel disease. Genetic susceptibility for CD is mainly determined by the human leukocyte antigen (HLA)-DQ haplotypes. The risk of CD conferred by HLA genotypes varies geographically and across populations, however, this has not yet been documented in Chinese patients with CD. AIMS: To investigate the distribution of HLA-DQ and the related risks of CD development in Northwest China. METHODS: A total of 75 CD patients and 300 healthy individuals were genotyped for HLA-DQ using the Illumina NextSeq, and the relative risks of the different genotypes were evaluated. RESULTS: In total, 68.00% of CD patients and 21.00% of controls carried HLA-DQ2.5 heterodimers (p < 0.001). We identified four CD risk gradients. Individuals carrying a double dose of DQB1*02 had the highest risk of developing CD (1:16); however, with heterozygosis (DQB1*02:02/DQB1*02:01) having the highest risk (1:9). HLA-DQ2.5 individuals with a single copy of HLA-DQB1*02, in either the cis or trans configuration, were at a medium risk (1:38). Non-DQ2.5 carriers of DQ8 or DQ2.2 were at low risk, while only carriers of DQ7.5 or DQX.5 were at very low risk. Patients with the HLA-DQ2.5 genotype had more severe mucosal damage compared with the HLA-DQ2.5 genotype negative CD patients (70.59% vs. 41.67%, p = 0.016). CONCLUSION: Genetic susceptibility to CD is highly prevalent in the Northwest Chinese population and the highest risk of developing CD was associated with the DQ2.5/DQ2.2 genotype. The DQ2.5 allele is involved in the severity of mucosal injury. FAU - Shi, Tian AU - Shi T AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Liu, Weidong AU - Liu W AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Li, Ting AU - Li T AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Liu, Huan AU - Liu H AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Hui, Wenjia AU - Hui W AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Lin, Qiang AU - Lin Q AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Han, Xiaojiang AU - Han X AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. FAU - Gao, Feng AU - Gao F AUID- ORCID: 0000-0002-3320-5702 AD - Department of Gastroenterology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China. AD - Xinjiang Clinical Research Center for Digestive Diseases, Urumqi, China. LA - eng PT - Journal Article DEP - 20221122 PL - England TA - Scand J Gastroenterol JT - Scandinavian journal of gastroenterology JID - 0060105 RN - 0 (HLA-DQ Antigens) SB - IM MH - Humans MH - Genetic Predisposition to Disease MH - *Celiac Disease/complications MH - Genotype MH - HLA-DQ Antigens/genetics MH - Haplotypes MH - *Inflammatory Bowel Diseases/complications MH - China/epidemiology OTO - NOTNLM OT - Celiac disease OT - HLA typing OT - genetic risk EDAT- 2022/11/24 06:00 MHDA- 2023/04/24 06:41 CRDT- 2022/11/23 01:43 PHST- 2023/04/24 06:41 [medline] PHST- 2022/11/24 06:00 [pubmed] PHST- 2022/11/23 01:43 [entrez] AID - 10.1080/00365521.2022.2147801 [doi] PST - ppublish SO - Scand J Gastroenterol. 2023 May;58(5):471-476. doi: 10.1080/00365521.2022.2147801. Epub 2022 Nov 22.