Prevalence of Selected Polymorphisms of Il7R, CD226, CAPSL, and CLEC16A Genes in Children and Adolescents with Autoimmune Thyroid Diseases

Author:

Borysewicz-Sańczyk Hanna1,Wawrusiewicz-Kurylonek Natalia23ORCID,Gościk Joanna4,Sawicka Beata1,Bossowski Filip1ORCID,Corica Domenico5,Aversa Tommaso5ORCID,Waśniewska Małgorzata5ORCID,Bossowski Artur1ORCID

Affiliation:

1. Department of Pediatrics, Endocrinology, Diabetology with Cardiology Divisions, Medical University of Bialystok, J. Waszyngtona 17, 15-274 Bialystok, Poland

2. Department of Clinical Genetics, Medical University of Bialystok, J. Waszyngtona 13, 15-089 Bialystok, Poland

3. Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, M. Skłodowskiej-Curie 24A, 15-276 Bialystok, Poland

4. Faculty of Computer Science, Bialystok University of Technology, Wiejska 45A, 15-351 Bialystok, Poland

5. Unit of Pediatrics, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria Cap, 98125 Messina, Italy

Abstract

Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are common autoimmune endocrine disorders in children. Studies indicate that apart from environmental factors, genetic background significantly contributes to the development of these diseases. This study aimed to assess the prevalence of selected single-nucleotide polymorphisms (SNPs) of Il7R, CD226, CAPSL, and CLEC16A genes in children with autoimmune thyroid diseases. We analyzed SNPs at the locus rs3194051, rs6897932 of IL7R, rs763361 of CD226, rs1010601 of CAPSL, and rs725613 of CLEC16A gene in 56 HT patients, 124 GD patients, and 156 healthy children. We observed significant differences in alleles IL7R (rs6897932) between HT males and the control group (C > T, p = 0.028) and between all GD patients and healthy children (C > T, p = 0.035) as well as GD females and controls (C > T, p = 0.018). Moreover, the C/T genotype was less frequent in GD patients at rs6897932 locus and in HT males at rs1010601 locus. The presence of the T allele in the IL7R (rs6897932) locus appears to have a protective effect against HT in males and GD in all children. Similarly, the presence of the T allele in the CAPSL locus (rs1010601) seems to reduce the risk of HT development in all patients.

Funder

Medical University of Białystok

Publisher

MDPI AG

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