Retrospective Study
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Jul 9, 2022; 11(4): 351-359
Published online Jul 9, 2022. doi: 10.5409/wjcp.v11.i4.351
Frequency of celiac disease and distribution of HLA-DQ2/DQ8 haplotypes among siblings of children with celiac disease
Yasin Sahin, Serdar Mermer
Yasin Sahin, Department of Pediatric Gastroenterology, Mersin Training and Research Hospital, Mersin 33240, Mersin, Turkey
Serdar Mermer, Department of Medical Genetics, Mersin Training and Research Hospital, Mersin 33240, Mersin, Turkey
Author contributions: Sahin Y designed the study, analyzed the data, interpreted the data and wrote the manuscript; Mermer S designed the study and collected and analyzed the data; All authors had read and approved the final manuscript.
Institutional review board statement: The current study was approved by the Local Ethics Committee (Toros University, Mersin, Turkey, 17.06.2020/41).
Informed consent statement: Written informed consent was not obtained as the study is retrospective. However, the Local Ethics Committee approved the current study.
Conflict-of-interest statement: All the authors declare that they have no conflict of interest.
Data sharing statement: No additional data are available.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yasin Sahin, MD, Associate Professor, Department of Pediatric Gastroenterology, Mersin Training and Research Hospital, Korukent Mah. 96015 Sok. Mersin Entegre Sağlık Kampüsü 33240 Toroslar/Mersin, Mersin 33240, Mersin, Turkey. ysahin977@gmail.com
Received: January 10, 2022
Peer-review started: January 10, 2022
First decision: March 8, 2022
Revised: March 18, 2022
Accepted: June 3, 2022
Article in press: June 3, 2022
Published online: July 9, 2022
Abstract
BACKGROUND

Celiac disease (CD) is a multifactorial disease, but genetic factors play a major role in its etiology. It has been known that human leucocyte antigen (HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors. The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes.

AIM

To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients.

METHODS

Patients with biopsy-proven CD and their siblings were included in the study; those who did not have HLA genotyping were excluded from the study. All siblings were on a gluten-containing diet. The HLA genotyping, tissue transglutaminase antibody IgA antibody test, and total IgA test were performed in all participants.

RESULTS

A total of 57 celiac patients and their 112 siblings were included in the study. The mean age of celiac patients and siblings were 10.30 ± 3.87 years and 9.90 ± 6.11 years, respectively. HLA-DQ2/DQ8 alleles were detected in 98.2% of patients with CD and 90.2% of siblings of celiac patients. HLA-DQ genotypes were present in all siblings diagnosed with CD. Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings. CD was diagnosed in 12 siblings (10.7%) by intestinal biopsy.

CONCLUSION

The prevalence of CD was found to be 10.7% in siblings of celiac patients in our study. One-third of the siblings diagnosed with CD were asymptomatic. We detected HLA-DQ alleles in 98.2% of celiac patients and 100% in siblings diagnosed with CD. In addition, 1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later. Therefore, we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination. Since the risk of developing CD is much higher in asymptomatic siblings, we recommend that siblings should be screened for CD even if they are asymptomatic.

Keywords: Celiac disease, Frequency, Genetic, HLA haplotypes, Intestinal biopsy, Siblings

Core Tip: Celiac disease (CD) is a multifactorial disease, but genetic factors play a major role in its etiology. Human leucocyte antigen-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors. We detected human leucocyte antigen-DQ alleles in 98.2% of celiac patients and 100% in siblings diagnosed with CD. Also, 1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later. Siblings of celiac patients should be followed up with clinical findings and human leucocyte antigen analysis and serological examination. We recommend that siblings should be screened for CD even if they are asymptomatic.