Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study / Falta de associação entre polimorfismos do gene UBASH3A e doença tiroidiana autoimune: estudo caso controle

Objective: The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population. Subjects and methods: A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform. Results: Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group. Conclusion: Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population. .

Objetivo: O objetivo deste estudo foi investigar a variação no gene UBASH3A com a doença tiroidiana autoimune e características clínicas na população chinesa Han. Sujeitos e métodos: Um total de 667 pacientes com DTAI (417 com DG e 250 com TH) e 301 controles saudáveis foi genotipado para dois polimorfismos de nucleotídeo simples (SNPs) rs11203203, rs3788013 do gene UBASH3A, usando-se a plataforma MALDI-TOF-MS (Ionização/Dessorção de Matriz Assistida por Laser – Tempo de Voo/Espectrômetro de Massa). Resultados: Não foram observadas diferenças significativas entre as frequências genotípicas e alélicas dos dois SNPs nos grupos controle e DTAI, DG e TH. Não houve diferenças significativas entre as frequências alélicas dos dois SNPs em pacientes com DG com ou sem olftalmopatia. Não houve diferenças significativas nas distribuições de haplótipos no grupo controle e nos grupos DTAI, DG e TH. Conclusão: Os SNPs rs11203203 e rs3788013 do gene UBASH3A podem não estar associados a pacientes com DTAI na população chinesa Han. .

Poly-peptide immunogenicity of human thyroid-stimulating hormone receptor that may cause Graves' disease / 基础医学与临床

DQA1*0501.TSHR peptides of 183～198、195～210、248～263、301～320、343～362 and 357～376 could bind with high affinity to both HLA-DR3 and HLA-DQA1*0501,all of their IC50 values less than(1 ?mol/L),but they could bind to neither HLA-DR7 nor HLA-DQA1*0201 with high affinity.Conclusion Epitopes of TSHR 183～198,195～210,248～263,301～320,343～362 and 357～376 on the TSHR extracellular domain might be the auto-antigens to cause GD.

Study on the association of thyrotropin receptor antibodies with the sensitivity to glucocorticoid therapy in Graves′s ophthalmopathy patients / 中国免疫学杂志

Objective:To investigate the association of thyrotropin receptor antibodies(TRAb) with the sensitivity to glucocorticoid therapy in Graves′s ophthalmopathy(GO) patients.Methods:Total 37 subjects with active GO were treated with prednisone. According to the relieve degree and clinical activity of their eye symptoms post-steroid treatment, patients were grouped into sensitive group(S) and non-sensitive group(NS). TRAb positive rate and antibody titer of the two groups were compared.Results:In S group( n=28 ), the positive rate and titre of TRAb were 76.53% and (12.54?5.62) U/L, respectively; The positive rate and titre of TRAb post-treatment were 22.18% and (7.82?4.91) U/L, respectively, were significant lower than data prior treatment. In NS group( n=9 ), the positive rate and titre of TRAb prior treatment were 67.24% and (11.07?4.63) U/L, respectively; The positive rate and titre of TRAb post-treatment were 59.74% and (10.81?5.96) U/L, there was no significant difference with data prior treatment. Prior treatment, there was no significant difference of TRAb titres between the two groups. Post-treatment, TRAb titres in NS group were significant higher than in S group.Conclusion:The variations of TRAb level were closely correlated with the sensitivity to glucocorticoid therapy in GO patients. Serum TRAb level can be used as a major index to evaluate therapeutic sensitivity to glucocorticoid therapy in GO.

Gene clone,recombination and expression of CTLA-4,TCRV?8 of human T lymphocyte / 西安交通大学学报(医学版)

Objective To clone CTLA-4 and TCRV?8 gene from T lymphocyte of thyroid of Graves' disease (GD) patients,recombine to form CTLA-4-TCRV?8 fusion gene and express the fusion protein.Methods CTLA-4 and TCRV?8 gene was cloned from T lymphocyte of thyroid of GD patients by RT-PCR.Then it was recombined with expression plasmid in order.The correct plasmids were obtained after the restriction analysis and DNA sequencing.Prokaryotic expression of the fusion protein in E.coli,SDS-PAGE and Western Blotting were used to verify the fusion protein.Results Restriction analysis and DNA sequencing confirmed the correct sequence and insertion site of the recombinant plasmid.The recombinant fusion protein was successfully expressed in E.coli,which was consistent with the predicted putative calculating molecular weight.Conclusion CTLA-4-TCRV?8 gene was constructed and expressed successfully,providing gene product and application theory for immune tolerance therapy of GD.

STUDY OF SERUM TRAb IN AUTOIMMUNE THYROID DISEASE WITH ABC- ELISA / 西安交通大学学报(医学版)

In this paper the investigation of using a new method-ABC-ELISA in assay of Autoimmune Thyroid Disease are presented. The sensitivity of ABC-ELISA is compared with that of standard ELISA; Its reliability is proven by the methods of detecting TSAb with FRTL-5. TRAb is detected by ABC-ELISA in 91% of untreated Graves'. TRAb is detected by Standard ELISA in 70% of untreated Graves'. The results of ABC-ELISA in 26 untreated Graves' are equal to that of the method of detecting TSAb with FRTL-5. Therefore, we consider that ABC-ELISA is a sensitive, reproducible, convenient method applicable to clinical practice.