Novel Genetic Loci in Pathogenesis of Autoimmune Thyroid Diseases and Their Relationship with Selenium Status

  • Sabīne Upmale-Engela (Speaker)
  • Ieva Kalere (Co-author)
  • Pečulis, R. (Co-author)
  • Raimonds Reščenko (Co-author)
  • Helēna Daiga Litvina (Co-author)
  • Zaķe, T. (Co-author)
  • Šķesters, A. (Co-author)
  • Deniss Gogins (Co-author)
  • Vita Rovite (Co-author)
  • Konrāde, I. (Co-author)

Activity: Talk or presentation types › Oral presentation

Description

Genetic, immune, and environmental factors strongly contribute to the development of autoimmune thyroid disease(AITD) such as Graves’ disease(GD) and Hashimoto thyroiditis HT). Selenium is one of the most discussed exogenous factors in the pathogenesis of AITD.The aim was to assess the association of genetic factors with selenium levels and blood immuno-molecules in an adult cohort with HT and GD, and healthy controls.. A total of 2692 subjects were included in a cross-sectional study. They were divided into 3 groups: GD(N=148), HT(N=102), and a control group(N=2442). Diagnosis of AITD was based on laboratory. In addition, serum cytokine concentrations were measured and selenium status was evaluated by measuring serum selenium, selenoprotein (SePP) levels,and glutathione peroxidase-3(GPx3) activity. The genotypes were determined using genome wide genotyping, imputation was carried out using TOPMed r2 imputation panel and association analysis was performed with PLINK2.9.. Out of 2692 participants 1684 were female(62.6%),1008–male(37.4%).Mean age was 54.3 years(SD 14.0) in the Control Group, 48.4(SD 15.6) in GD,and 48.3(SD 15.6) in HT patients. Mean selenium level was 84.4μg/L(SD 31.3),69.3 μg/L(SD 17.1), and 83.4μg/L(SD 27.0) in the respective groups. The overall cohort selenium level was below the reference levels (80-125 μg/L) for 62% of the participants with GD patients having significantly lower levels. We did not observe any significant association of genetic loci with SePP levels, or 18 different cytokine levels measured. Nevertheless, the obtained results demonstrate four novel loci associated with higher plasma selenium levels (WDR49, RTN4IP1, MYL6P4, LINC02338), one with increased GPx3 activity(TPCN2), three with GD(LSAMP, HNRNPA3P5, NTN1) and one with HT(VAT1L).. The novel loci associations could be attributed to population-specific effects or unknown stratification in our cohort, and further assessment of these hits are required to explain the relation of genetic traits with studied AITD and other This study was supported by the Latvian Council of Science(Grant No:lzp-2018/2-0059).
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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