Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

Anastasiia A. Buianova; Marina. Yu Yukina; Valery V. Cheranev; Oleg N. Suchalko; Anna O. Shmitko; Alina F. Samitova; Nurana F. Nuralieva; Elena V. Kulagina; Elena N. Savvateeva; Ekaterina A. Troshina; Denis V. Rebrikov; Dmitry A. Gryadunov; Dmitriy O. Korostin

doi:10.20944/preprints202311.1812.v1

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preprints.org > medicine and pharmacology > immunology and allergy > doi: 10.20944/preprints202311.1812.v1

Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

Anastasiia A. Buianova

^* ,

Ekaterina A. Troshina

Denis V. Rebrikov

Dmitry A. Gryadunov

Dmitriy O. Korostin

Version 1 : Received: 27 November 2023 / Approved: 28 November 2023 / Online: 29 November 2023 (02:22:25 CET)

How to cite: Buianova, A.A.; Yukina, M.Y.; Cheranev, V.V.; Suchalko, O.N.; Shmitko, A.O.; Samitova, A.F.; Nuralieva, N.F.; Kulagina, E.V.; Savvateeva, E.N.; Troshina, E.A.; Rebrikov, D.V.; Gryadunov, D.A.; Korostin, D.O. Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome. Preprints 2023, 2023111812. https://doi.org/10.20944/preprints202311.1812.v1 Buianova, A.A.; Yukina, M.Y.; Cheranev, V.V.; Suchalko, O.N.; Shmitko, A.O.; Samitova, A.F.; Nuralieva, N.F.; Kulagina, E.V.; Savvateeva, E.N.; Troshina, E.A.; Rebrikov, D.V.; Gryadunov, D.A.; Korostin, D.O. Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome. Preprints 2023, 2023111812. https://doi.org/10.20944/preprints202311.1812.v1

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MDPI and ACS Style

Buianova, A.A.; Yukina, M.Y.; Cheranev, V.V.; Suchalko, O.N.; Shmitko, A.O.; Samitova, A.F.; Nuralieva, N.F.; Kulagina, E.V.; Savvateeva, E.N.; Troshina, E.A.; Rebrikov, D.V.; Gryadunov, D.A.; Korostin, D.O. Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome. Preprints 2023, 2023111812. https://doi.org/10.20944/preprints202311.1812.v1

APA Style

Buianova, A.A., Yukina, M.Y., Cheranev, V.V., Suchalko, O.N., Shmitko, A.O., Samitova, A.F., Nuralieva, N.F., Kulagina, E.V., Savvateeva, E.N., Troshina, E.A., Rebrikov, D.V., Gryadunov, D.A., & Korostin, D.O. (2023). Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome. Preprints. https://doi.org/10.20944/preprints202311.1812.v1

Chicago/Turabian Style

Buianova, A.A., Dmitry A. Gryadunov and Dmitriy O. Korostin. 2023 "Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome" Preprints. https://doi.org/10.20944/preprints202311.1812.v1

Abstract

Trio-based exome sequencing and high-resolution HLA typing were employed to analyze three patients with autoimmune adrenal insufficiency (AAI), including those with autoimmune polyglandular syndrome (APS) type 2, as well as their parents. Benign or likely benign variants of the AIRE gene were identified in all participants of the study. These variants, coupled with clinical data and the results of antibody studies to type I interferons, helped to exclude APS-1. Patients with APS-2, in contrast to patient with AAI, inherited distinct variants of unknown significance in the CLEC16A gene, which is associated with autoimmune diseases including AAI. Various risk alleles in other genes associated with autoimmunity were identified in all patients. HLA typing of second class loci revealed alleles related to APS types 2, 3, and 4. Nevertheless, the frequencies of the haplotypes identified are substantial in the healthy Russian population, precluding from regarding these alleles as genetic determinants linked to APS development. Immunological examination can detect antibody carriers and predict the risk of autoimmune disease development. In the future, to identify genetic predictors of autoimmune endocrinopathies, it is recommended to analyze the whole genome of patients and their relatives, examining clinically relevant variants in non-coding regions.

Keywords

autoimmune adrenal insufficiency; autoimmune polyglandular syndromes; autoantibodies; microarray; whole-exome sequencing; Trio-exome sequencing; high-resolution HLA typing

Subject

Medicine and Pharmacology, Immunology and Allergy

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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