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Distribution of celiac disease predisposing genes HLA-DQ2 and HLA-DQ8 in the native population of southern India



Celiac disease (CD) is an intestinal inflammatory condition caused by the ingestion of gluten peptides in wheat and related grains in individuals carrying HLA-DQ2 and/or HLA-DQ8 genes. In comparison to HLA-DQ8, a higher HLA-DQ2 prevalence is reported in European population where wheat has been the staple food for thousands of years. In non-European population, this pattern of HLA-DQ CD-predisposing gene distribution has not always been found. The aim of this study was to evaluate the HLA-DQ2 and HLA-DQ8 distribution in the native low-gluten consuming southern Indian population.


Overall, 211 dried blood spots (DBS) were collected from native southern Indian individuals. HLA-DQ characterization and the determination of homozygous/heterozygous status were performed using commercially available HLA-DQ typing kits.


Of 211 collected DBS, 88 (42%, 95% CI: 36–48) were positive for HLA-DQ2 and/or HLA-DQ8 heterodimers. Overall, 40 (19%, 95% CI: 14–24) samples typed positive for HLA-DQ2 and 48 (23%, 95% CI: 18–28) typed positive for HLA-DQ8 genotypes. Of 40 HLA-DQ2-positive individuals, only one subject tested homozygous for the DQB1*02 allele.


In the southern Indian native general population, the prevalence of HLA-DQ8 is higher in comparison to HLA-DQ2 prevalence. This finding could be related to the delayed introduction of wheat in the diet of the southern Indian population.

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The authors acknowledge the support of Dr. Giovanni Maggiore (BioDiagene S.R.L Palermo, Italy) for technical support in HLA-DQ characterization. The authors are thankful to Emanuela Maria Mariani (Department of Pediatrics, Università Politecnica delle Marche, Ancona, Italy) for the execution of administrative work. We appreciate the contribution of students and staff of SIMS and residents of Sitheri Village, Villupuram District, Tamil Nadu, India, for their contribution.

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Authors and Affiliations



Formal analysis and investigation: Anil K. Verma, Chiara Monachesi, Giulia Naspi Catassi. Methodology (HLA-DQ characterization): Anil K. Verma. Participant recruitment: Balakrishnan S. Ramakrishna, John Mechenro, Giriprasad Venugopal. Collection and storage of DBS cards: John Mechenro, Giriprasad Venugopal. Acquisition, analysis, and interpretation of data: Elena Lionetti, Giulia Naspi Catassi, Balakrishnan S. Ramakrishna, Carlo Catassi. Writing — original draft preparation: Anil K. Verma. Conceived and designed the experiments, technical support, supervised the laboratory experiments, writing —review and editing: Elena Lionetti, Carlo Catassi. Clinical support to the participants, administrative support at Indian site: Balakrishnan S. Ramakrishna. Conceptualization, supervision: Carlo Catassi and Balakrishnan S. Ramakrishna. Supervision, funding acquisition, final approval of the version to be published, overall guarantor of the study: Carlo Catassi. All authors read and approved the final manuscript.

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Correspondence to Anil K. Verma.

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Conflict of interest

Carlo Catassi is a scientific consultant to Schär and Takeda, and all other AKV, JM, CM, GV, GNC, EL, and BSR authors declare no conflicts of interest.

Ethical statement

The authors declare that the study was performed in a manner conforming to the Helsinki declaration of 1975, as revised in 2000 and 2008 concerning human and animal rights, and the authors followed the policy concerning informed consent as shown on

The study protocol and consent forms were approved by the institutional ethics committee of the SRM Medical College Hospital and Research Centre, Kattankulathur, India (IEC clearance number 641/IEC/2014).


The authors are solely responsible for the data and the contents of the paper. In no way, the Honorary Editor-in-Chief, Editorial Board Members, the Indian Society of Gastroenterology or the printer/publishers are responsible for the results/findings and content of this article.

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Verma, A.K., Mechenro, J., Monachesi, C. et al. Distribution of celiac disease predisposing genes HLA-DQ2 and HLA-DQ8 in the native population of southern India. Indian J Gastroenterol 41, 240–246 (2022).

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  • Agarose gel
  • Dried blood spots
  • Gluten
  • Human leukocyte antigen
  • Polymerase chain reaction
  • Wheat