HLA-DQ genotype distribution and risk evaluation of celiac disease in Northwest China.

Abstract

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.

• Authors: Tian Shi, Weidong Liu, Ting Li, Huan Liu, Wenjia Hui, Qiang Lin, Xiaojiang Han, Feng Gao
• Journal: Scandinavian journal of gastroenterology (Scand J Gastroenterol) Vol. 58 Issue 5 Pg. 471-476 (05 2023) ISSN: 1502-7708 [Electronic] England
• PMID: 36415137 (Publication Type: Journal Article)

Chemical References

• HLA-DQ Antigens

Topics

• Humans
• Genetic Predisposition to Disease
• Celiac Disease (complications)
• Genotype
• HLA-DQ Antigens (genetics)
• Haplotypes
• Inflammatory Bowel Diseases (complications)
• China (epidemiology)