Dataset Information

Is There a Link between Thyroid Peroxidase Gene Promoter Polymorphisms and Autoimmune Thyroiditis in the Polish Population?

ABSTRACT: (1) Autoimmune thyroiditis (AIT) is the most common cause of primary hypothyroidism and one of the most frequent organ-specific autoimmune diseases. Its pathogenesis is polygenic and still requires further research. The aim of the study was to assess, for the first time in the Caucasian population, the role of selected TPO gene promoter polymorphisms (rs2071399 G/A, rs2071400C/T, rs2071402 A/G, and rs2071403 A/G) in the development of AIT. A total of 237 patients diagnosed with AIT and 130 healthy controls were genotyped for four TPO gene polymorphisms, and the results were statistically analyzed to check for the role of these polymorphisms. There were no significant differences in the genotype and allele frequencies of the studied TPO gene promoter polymorphisms between patients and controls (p > 0.05). The haplotype distribution (rs2071400-rs2071402-rs2071403) between the two studied groups was similar for the most common variants (CGA, CAG, TGG). Only a rare haplotype (CGG) occurred more frequently among patients compared to controls (p = 0.04). The studied TPO gene promoter polymorphisms did not show an association with susceptibility to AIT in the Caucasian Polish population, contrary to the results in Japanese patients.

SUBMITTER: Lacka K

PROVIDER: S-EPMC10969849 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature

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Is There a Link between Thyroid Peroxidase Gene Promoter Polymorphisms and Autoimmune Thyroiditis in the Polish Population?

Lacka Katarzyna K Maciejewski Adam A Jarecki Piotr P Herman Waldemar W Lacki Jan K JK Żaba Ryszard R Kowalczyk Michał J MJ

International journal of molecular sciences 20240314 6

(1) Autoimmune thyroiditis (AIT) is the most common cause of primary hypothyroidism and one of the most frequent organ-specific autoimmune diseases. Its pathogenesis is polygenic and still requires further research. The aim of the study was to assess, for the first time in the Caucasian population, the role of selected <i>TPO</i> gene promoter polymorphisms (rs2071399 G/A, rs2071400C/T, rs2071402 A/G, and rs2071403 A/G) in the development of AIT. A total of 237 patients diagnosed with AIT and 13 ...[more]

PMID: 38542286

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Project description:Currently, the precise interplay between autoimmune thyroiditis, particularly Hashimoto thyroiditis, and thyroid cancer remains ambiguous. While certain observational studies suggest autoimmune thyroiditis (including Hashimoto thyroiditis) as a predisposing factor for thyroid cancer. Nevertheless, it is still uncertain whether autoimmune thyroiditis is independently associated with thyroid cancer. We employed Mendelian randomization (MR) study methodology, a genetic analysis approach, to evaluate the causal impact of autoimmune thyroiditis on the occurrence of thyroid cancer. We obtained and synthesized statistical data by utilizing public available genome-wide association studies (GWAS). Our study utilized GWAS summary statistics datasets associated with autoimmune thyroiditis (including Hashimoto thyroiditis) as the exposure data source and selected GWAS summary statistics datasets related to thyroid cancer as the outcome data source. Single nucleotide polymorphisms closely associated with autoimmune thyroiditis were chosen as instrumental variables. We conducted 2-sample MR analyses to elucidate the causal association between autoimmune thyroiditis and thyroid cancer. The inverse variance-weighted (IVW) method was employed as the primary methodology, supplemented by additional MR methods including MR-Egger regression, weighted median, simple mode, and weighted mode analyses, to bolster the robustness of our findings. The MR analysis conducted using the IVW method did not confirm a causal relationship between autoimmune thyroiditis and thyroid cancer (odds ratio [OR] = 0.8554, 95% confidence interval [CI]: 0.7193 to 1.0172, P = .0772; OR = 0.8477, 95% CI: 0.7159 to 1.0039, P = .0555; and OR = 1.1324, 95% CI: 0.9342 to 1.3725, P = .2052, from 3 eligible dataset analyses, respectively). Additionally, MR analysis did not observe a causal association between Hashimoto thyroiditis and thyroid cancer (OR = 1.0449, 95% CI: 0.9400 to 1.1615, P = .4155; and OR = 0.9897, 95% CI: 0.8174 to 1.1984, P = .9159, from 2 eligible dataset analyses, respectively). Consistency in results across alternative MR methods was observed. This study employing MR methodology indicates the absence of significant causal relationship between exposure to autoimmune thyroiditis (including Hashimoto thyroiditis) and thyroid cancer. Further validation through larger-scale studies with increased sample sizes is warranted in future investigations.

Dataset Information

Is There a Link between Thyroid Peroxidase Gene Promoter Polymorphisms and Autoimmune Thyroiditis in the Polish Population?

Publications

Is There a Link between Thyroid Peroxidase Gene Promoter Polymorphisms and Autoimmune Thyroiditis in the Polish Population?

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