Special Issue: Autoimmune Disease Genetics

Wasniewska, Malgorzata; Bossowski, Artur

doi:10.3390/genes12121937

Cited by 1 publication

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“…Common chronic autoimmune endocrine disorders in children include autoimmune thyroid diseases (AITDs), such as Hashimoto's thyroiditis (HT) and Graves' disease (GD) [2,3]. The mechanisms leading to the development of these diseases remain unknown; however, scientific reports indicate that besides environmental factors, genetic background plays a significant role [3][4][5]. The genetic predisposition to AITDs has been attributed to approximately 70% of disease risk, while environmental factors are believed to trigger the disease in genetically susceptible individuals [3].…”

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confidence: 99%

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

Borysewicz-Sańczyk,

Wawrusiewicz-Kurylonek,

Gościk

et al. 2024

IJMS

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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.

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