PAR1/2数目异常可影响特纳综合征的效应T细胞亚群。

IF 0.9 4区 医学 Q4 GENETICS & HEREDITY
Ai Miyakoshi, Sumiko Sueyoshi, Akifumi Ijuin, Haru Hamada, Mayuko Nishi, Shiori Tochihara, Marina Saito, Hiroe Ueno, Michi Kasai, Shin Saito, Ryoko Asano, Taichi Mizushima, Etsuko Miyagi, Mariko Murase, Miki Tanoshima, Hideya Sakakibara, Tomonari Hayama
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引用次数: 0

摘要

简介:特纳综合征是一种复杂的性腺功能不全、不孕症和内分泌疾病,由一条X染色体部分或完全丧失引起。据报道,患有特纳综合征的妇女表现出改变的效应t细胞亚群;然而,t细胞亚群与染色体类型之间的关系尚不清楚。方法:研究特纳综合征的免疫异常和核型。在2021年7月至2022年6月期间,我们使用流式细胞术检测了20名特纳综合征女性和23名对照组女性(无复发性妊娠丢失)的t细胞亚群。同时收集了特纳综合征妇女的背景资料。结果:Turner综合征妇女辅助性t细胞1、2水平显著低于对照组(4.5±2.88∶8.54±4.45,p < 0.05; 0.56±0.38∶0.97±0.48,p < 0.05)。就核型而言,由于PAR2拷贝数与Treg率呈正相关(r = 0.76),特定区域(假常染色体2区)的缺失可能会影响调节性T细胞(Treg)水平。结论:Turner综合征患者的t细胞亚群发生改变,这可能是由于X染色体假常染色体2区缺失所致。这一发现表明,患有特纳综合征的特定核型的妇女表现出t细胞亚群的改变,需要更多的病例来确定这些t细胞的改变是否会影响妊娠结局。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome.

Introduction: Turner syndrome is a complicated gonadal insufficiency, infertility, and endocrine disease caused by the partial to complete loss of one X chromosome. Women with Turner syndrome have been reported to show altered effector T-cell subgroups; however, the relationship between T-cell subgroups and chromosome type remains unknown.

Methods: In this study, we investigated immune abnormalities and karyotypes of Turner syndrome. Using flowcytometry, we examined the T-cell subsets of 20 women with Turner syndrome and 23 women serving as controls (without recurrent pregnancy loss), between July 2021 and June 2022. Background data of the women with Turner syndrome were also collected.

Results: Significantly lower levels of helper T-cells 1 and 2 were observed in women with Turner syndrome than in the control group (4.5 ± 2.88 vs. 8.54 ± 4.45, p < 0.05, 0.56 ± 0.38 vs. 0.97 ± 0.48, p < 0.05, respectively). With respect to karyotypes, deletion of a specific region, pseudoautosomal region 2, which typically escapes X-inactivation, might influence regulatory T cells (Treg) levels as copy number of PAR2 and Treg rate were positively correlated (r = 0.76).

Conclusion: Individuals with Turner syndrome showed an altered T-cell subset, which might be caused by the deletion of a specific part of the X chromosome, pseudoautosomal region 2. This finding suggests that women with Turner syndrome in a specific karyotype show altered T-cell subsets, and more cases are needed to determine whether these T-cell changes could influence pregnancy outcomes.

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来源期刊
Molecular Syndromology
Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.70
自引率
9.10%
发文量
67
期刊介绍: ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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