Complex Association Analysis of Graves Disease Using a Set of Polymorphic Markers

Chistyakov, D. A.; Savost’anov, Kirill V.; Туракулов, Р. И.; Petunina, N. A.; Trukhina, L V; Kudinova, Anna V.; Балаболкин, М. И.; Носиков, В. В.

doi:10.1006/mgme.2000.3007

Cited by 60 publications

(28 citation statements)

References 27 publications

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“…1b). Meanwhile, the SNPs in the coding region of TSHR, P52T (rs80491931) and D727E (rs80680336), which were associated with GD in previous studies using small samples (12,13,14,15,16,17,18,19,20), were not associated with GD in our study (Supplementary Table 5, see section on supplementary data given at the end of this article).…”

Section: Regression Analysis Of Gwas-stage and Imputation Datacontrasting

confidence: 47%

“…TSHR, on chromosome 14q31, was previously well established as a susceptibility locus for GD (12,13,14,15,16,17,18,19,20). However, the results of studies investigating the causal variants for GD in this region have been less consistent (21,22); single nucleotide polymorphisms (SNPs) in intron 7 have been suggested to be associated with GD in Japanese patients (21), but intron 1 SNPs have been found in association with GD in the Caucasian UK population (22,23).…”

Section: Introductionmentioning

confidence: 99%

“…However, the results of studies investigating the causal variants for GD in this region have been less consistent (21,22); single nucleotide polymorphisms (SNPs) in intron 7 have been suggested to be associated with GD in Japanese patients (21), but intron 1 SNPs have been found in association with GD in the Caucasian UK population (22,23). Further, early studies using small samples claimed that three nonsynonymous SNPs, D36H, P52T and D727E, in TSHR were associated with GD (12,13,14,15,16,17,18,19,20). In our most recent GWAS study, we have provided convincing evidence for the association of the SNPs in intron 1 of TSHR with GD in the Chinese Han population (8).…”

Section: Introductionmentioning

confidence: 99%

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Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population

Liu

Yang

Liu

et al. 2014

European Journal of Endocrinology

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Background: Convincing evidence has demonstrated the association of TSH receptor (TSHR) with Graves' disease (GD) in the Chinese Han population. Objective: The aim of this study was to identify the causal variants for GD in the region encompassing TSHR by a refining association study. Design and methods: GD patients (1536) and 1516 sex-matched controls were recruited in the first stage, and an additional 3832 GD patients and 3426 sex-matched controls were recruited in the replication stage. Genotyping was performed using Illumina Human660-Quad BeadChips or TaqMan single nucleotide polymorphism (SNP) Genotyping Assays and the Fluidigm EP1 platform. Results: When the results of regression analysis for 74 genotyped SNPs and 922 imputed SNPs in the first-stage cohort were combined, rs179243 and rs3783949 were the probable susceptibility SNPs associated with GD in TSHR. Eleven SNPs, including rs179243 and rs3783949, were selected to further refine the association in the replication study. Finally, rs12101261 and rs179243 were confirmed as independent GD susceptibility variants in the replication and combined populations. Further, we also found that the rate of persistent TSHR autoantibody positivity (pTRAbC) was significantly higher in the GD patients with the susceptible genotypes rs12101261 or rs179243 than in the GD patients carrying the protective genotypes, after the GD patients had been treated for more than 1 year. Conclusions: These findings indicate that rs12101261 and rs179243 are the possible causal SNPs for GD susceptibility in the TSHR gene and could serve as genetic markers to predict the outcome of pTRAbC in GD patients.

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Section: Regression Analysis Of Gwas-stage and Imputation Datacontrasting

confidence: 47%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population

Liu

Yang

Liu

et al. 2014

European Journal of Endocrinology

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“…Association studies using three common TSHR exonic and nonsynonymous SNPs (in the extracellular and intracellular domain of the receptor) were inconsistent (5,6,(8)(9)(10)(11)(12). However, in two linkage studies we described a GD-specific chromosome 14 locus of *25 cM, designated GD-1 (4,7,13), in the center of which was the TSHR (between markers D14S258 and D14S1054).…”

Section: Introductionmentioning

confidence: 97%

Influence of the TSH Receptor Gene on Susceptibility to Graves' Disease and Graves' Ophthalmopathy

Yin

Latif²,

Bahn

et al. 2008

Thyroid

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“…Для населения Российской Феде-рации (РФ) генетические маркеры установле-ны у московской популяции [8]. В РТ подобные исследования ранее не проводились, поэтому целью данного исследования является анализ ассоциации полиморфизмов +49 А/G, -318 С/Т, -1661 А/G гена СТLA-4 и полиморфного вари-анта 1858 С/Т гена PTPN-22 с риском развития АИТ у населения РТ.…”

Section: Introductionunclassified

Association of Ctla-4 and PTPN-22 Genes Polymorphisms With Increased Risk of Autoimmune Thyroiditis in Tatar Population

Biktagirova¹,

Кравцова²,

Sattarova³

et al. 2014

Med.Imm.Rus

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1Казанский государственный университет им. В.И. Ульянова-Ленина, биолого-почвенный факультет, кафедра биохимии, г . Казань 2 Межрегиональный клинико-диагностический центр (МКДЦ), иммунологическая лаборатория, г. КазаньРезюме. Проблема аутоиммунного тиреоидита (АИТ) до настоящего времени остается актуальной, так как вопросы этиологии, патогенеза, морфологии, классификации, диагностики, терапии и про-гноза заболевания не получили еще своего окончательного решения. Так как в основе патогенеза любого аутоиммунного заболевания лежат нарушения тонких молекулярных механизмов регуляции иммунной системой, гены, кодирующие основные ее компоненты, рассматриваются как потенци-альные гены-кандидаты предрасположенности к АИТ. К таким генам относятся гены поверхностно-го антигена цитотоксических Т-лимфоцитов (CTLA-4) и протеинтирозинфосфатазы 22 (PTPN-22). Нами проведено генотипирование у 298 женщин Республики Татарстан с учетом возраста и биохими-ческих показателей (группа контроля составила 137 человек, больных АИТ -161) по полиморфизмам +49 А/G, -318 С/Т, -1661 А/G гена СТLA-4 и по полиморфному варианту 1858 С/Т гена PTPN-22. Генотипирование проводили с помощью полимеразной цепной реакции с последующим рестрикци-онным анализом. Полученные данные анализировали с помощью χ 2 с использованием 95% довери-тельных интервалов. Результаты исследования показали повышенную частоту встречаемости поли-морфного аллеля G как по локусу +49 А/G, так и по полиморфизму -1661 А/G гена СТLA-4 в группе больных АИТ (P = 0,04, OШ 1,84, 95% ДИ 2,31-1,4; P = 0,001, OШ 2,0 95% ДИ 1,62-2,31, соответствен-но) с повышенным содержанием антител к тиреоглобулину (OШ 1,56, 95%ДИ 2,25-3,6; OШ 1,12, 95%ДИ 1,9-2,75 соответственно) и к тиреопероксидазе (OШ 1,3, 95% ДИ 1,5-4,1 для генотипа G/G полиморфизма +49 A/G) в сыворотке вне зависимости от возраста (р < 0,05). Сочетание генотипов: A/G, C/T и G/G полиморфизмов -1661 A/G, -318 C/T и +49 A/G гена СТLA-4 ассоциировано с повы-шенным риском предрасположенности к АИТ (ОШ = 7,87, 95% ДИ 2,03-3,25). Полиморфные локусы -318 С/Т и 1858 С/Т генов СТLA-4 и PTPN-22 (соответственно) не ассоциированы с развитием дан-ной патологии среди женщин РТ. Наши результаты предполагают, что полиморфизм генов CTLA-4 и PTPN-22 может модифицировать индивидуальную восприимчивость к аутоиммунному тиреоидиту. Abstract. The aspects of autoimmune thyroiditis (AIT) remain quite actual, since many issues of etiology, pathogenesis, morphology, classification, diagnostics, therapy and prediction of this disorder are far from final solution. Since disturbances of fine molecular immune mechanisms underlie pathogenesis of either immune disorder, the genes coding its main components, are regarded as potential candidate genes predisposing for AIT, e.g., genes of surface antigen (CTLA-4) and protein tyrosine phosphatase non-receptor 22Адрес для переписки: 420133, Республика Татарстан, г. Казань, ул. ак. Лаврентьева, 20-120. Тел.: (917) 277-45-55.

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Complex Association Analysis of Graves Disease Using a Set of Polymorphic Markers

Cited by 60 publications

References 27 publications

Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population

Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population

Influence of the TSH Receptor Gene on Susceptibility to Graves' Disease and Graves' Ophthalmopathy

Association of Ctla-4 and PTPN-22 Genes Polymorphisms With Increased Risk of Autoimmune Thyroiditis in Tatar Population

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