Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us

BackgroundApproximately half of patients diagnosed with Graves’ disease (GD) relapse within two years of thyreostatic drug withdrawal. It is then necessary to decide whether to reintroduce conservative treatment that can have serious side effects, or to choose a radical approach. Familial forms of G...

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Autores principales:	Daniela Vejrazkova, Josef Vcelak, Eliska Vaclavikova, Marketa Vankova, Katerina Zajickova, Jana Vrbikova, Michaela Duskova, Petra Pacesova, Zdenek Novak, Bela Bendlova
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Graves’ disease HLA variants PTPN22 gene genetic predictors treatment Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/1a8b1671d06a4a40abbe1383abda890f
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spelling	oai:doaj.org-article:1a8b1671d06a4a40abbe1383abda890f2021-11-30T14:31:33ZRecurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us1664-239210.3389/fendo.2021.761077https://doaj.org/article/1a8b1671d06a4a40abbe1383abda890f2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.761077/fullhttps://doaj.org/toc/1664-2392BackgroundApproximately half of patients diagnosed with Graves’ disease (GD) relapse within two years of thyreostatic drug withdrawal. It is then necessary to decide whether to reintroduce conservative treatment that can have serious side effects, or to choose a radical approach. Familial forms of GD indicate a significant genetic component. Our aim was to evaluate the practical benefits of HLA and PTPN22 genetic testing for the assessment of disease recurrence risk in the Czech population.MethodsIn 206 patients with GD, exon 2 in the HLA genes DRB1, DQA1, DQB1 and rs2476601 in the gene PTPN22 were sequenced.ResultsThe risk HLA haplotype DRB103-DQA105-DQB102 was more frequent in our GD patients than in the general European population. During long-term retrospective follow-up (many-year to lifelong perspective), 87 patients relapsed and 26 achieved remission lasting over 2 years indicating a 23% success rate for conservative treatment of the disease. In 93 people, the success of conservative treatment could not be evaluated (thyroidectomy immediately after the first attack or ongoing antithyroid therapy). Of the examined genes, the HLA-DQA105 variant reached statistical significance in terms of the ability to predict relapse (p=0.03). Combinations with either both other HLA risk genes forming the risk haplotype DRB103-DQA105-DQB102 or with the PTPN22 SNP did not improve the predictive value.Conclusionthe DQA105 variant may be a useful prognostic marker in patients with an unclear choice of treatment strategy.Daniela VejrazkovaJosef VcelakEliska VaclavikovaMarketa VankovaKaterina ZajickovaJana VrbikovaMichaela DuskovaPetra PacesovaZdenek NovakBela BendlovaFrontiers Media S.A.articleGraves’ diseaseHLA variantsPTPN22 genegenetic predictorstreatmentDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Graves’ disease HLA variants PTPN22 gene genetic predictors treatment Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	Graves’ disease HLA variants PTPN22 gene genetic predictors treatment Diseases of the endocrine glands. Clinical endocrinology RC648-665 Daniela Vejrazkova Josef Vcelak Eliska Vaclavikova Marketa Vankova Katerina Zajickova Jana Vrbikova Michaela Duskova Petra Pacesova Zdenek Novak Bela Bendlova Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us
description	BackgroundApproximately half of patients diagnosed with Graves’ disease (GD) relapse within two years of thyreostatic drug withdrawal. It is then necessary to decide whether to reintroduce conservative treatment that can have serious side effects, or to choose a radical approach. Familial forms of GD indicate a significant genetic component. Our aim was to evaluate the practical benefits of HLA and PTPN22 genetic testing for the assessment of disease recurrence risk in the Czech population.MethodsIn 206 patients with GD, exon 2 in the HLA genes DRB1, DQA1, DQB1 and rs2476601 in the gene PTPN22 were sequenced.ResultsThe risk HLA haplotype DRB103-DQA105-DQB102 was more frequent in our GD patients than in the general European population. During long-term retrospective follow-up (many-year to lifelong perspective), 87 patients relapsed and 26 achieved remission lasting over 2 years indicating a 23% success rate for conservative treatment of the disease. In 93 people, the success of conservative treatment could not be evaluated (thyroidectomy immediately after the first attack or ongoing antithyroid therapy). Of the examined genes, the HLA-DQA105 variant reached statistical significance in terms of the ability to predict relapse (p=0.03). Combinations with either both other HLA risk genes forming the risk haplotype DRB103-DQA105-DQB102 or with the PTPN22 SNP did not improve the predictive value.Conclusionthe DQA105 variant may be a useful prognostic marker in patients with an unclear choice of treatment strategy.
format	article
author	Daniela Vejrazkova Josef Vcelak Eliska Vaclavikova Marketa Vankova Katerina Zajickova Jana Vrbikova Michaela Duskova Petra Pacesova Zdenek Novak Bela Bendlova
author_facet	Daniela Vejrazkova Josef Vcelak Eliska Vaclavikova Marketa Vankova Katerina Zajickova Jana Vrbikova Michaela Duskova Petra Pacesova Zdenek Novak Bela Bendlova
author_sort	Daniela Vejrazkova
title	Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us
title_short	Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us
title_full	Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us
title_fullStr	Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us
title_full_unstemmed	Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us
title_sort	recurrence of graves’ disease: what genetics of hla and ptpn22 can tell us
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/1a8b1671d06a4a40abbe1383abda890f
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Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us

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