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首页> 外文期刊>Sarcoidosis, vasculitis, and diffuse lung diseases: official journal of WASOG >Cytotoxic T-lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism affects lymphocyte profiles in bronchoalveolar lavage of patients with sarcoidosis.
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Cytotoxic T-lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism affects lymphocyte profiles in bronchoalveolar lavage of patients with sarcoidosis.

机译：细胞毒性T淋巴细胞抗原4（CTLA-4）外显子1多态性影响结节病患者支气管肺泡灌洗中的淋巴细胞谱。

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BACKGROUND: Sarcoidosis is a systemic disease characterized by T-cell activation and subsequent granuloma formation at the site of involvement. Genetic susceptibility is a key factor in the pathogenesis of this disease, and genes involved in T-cell regulation are potential candidates. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a negative regulator of T-cell activation expressed on activated T-cells. The G allele of the CTLA-4 exon 1 polymorphism has previously been described to be associated with disease susceptibility in several autoimmune diseases. We investigated the relationship of CTLA-4 to disease susceptibility and cell profiles in bronchoalveolar lavage (BAL) in Japanese sarcoidosis patients. METHODS: Japanese sarcoidosis patients (n = 135) and controls (n = 97) were typed for an A/G bi-allelic polymorphism in exon 1 of CTLA-4 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the distribution of genotypes was compared between both groups. Sixty-seven patients underwent BAL, and cell profiles in BAL fluid were compared between patients with G/G genotype and those with A/A genotype. RESULTS: No significant differences in the distribution of genotype and allele frequencies were found between sarcoidosis (GG: 46%, AG: 39%, AA: 15%) and controls (GG: 42%, AG: 49%, AA: 8%). Patients with G/G genotype had significantly increased lymphocyte ratios, lymphocyte counts, and CD4(+) cell counts in BAL fluid compared with patients with A/A genotype (p < 0.05). CONCLUSIONS: CTLA-4 exonl polymorphism might affect BAL fluid lymphocyte profiles in Japanese sarcoidosis patients.
机译：背景：结节病是一种全身性疾病，其特征在于T细胞活化以及随后在受累部位形成肉芽肿。遗传易感性是该疾病发病机理的关键因素，而参与T细胞调节的基因是潜在的候选者。细胞毒性T淋巴细胞抗原4（CTLA-4）是在活化T细胞上表达的T细胞活化的负调节剂。先前已经描述了CTLA-4外显子1多态性的G等位基因与几种自身免疫性疾病的疾病易感性相关。我们调查了CTLA-4与日本结节病患者支气管肺泡灌洗（BAL）中疾病易感性和细胞谱的关系。方法：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对日本结节病患者（n = 135）和对照（n = 97）在CTLA-4外显子1的A / G双等位基因多态性进行分类，比较两组之间的基因型分布。 67例患者接受了BAL，并对G / G基因型和A / A基因型患者的BAL液中的细胞谱进行了比较。结果：结节病（GG：46％，AG：39％，AA：15％）和对照（GG：42％，AG：49％，AA：8％）之间的基因型和等位基因频率分布没有显着差异。 ）。与A / A基因型患者相比，G / G基因型患者BAL液中的淋巴细胞比率，淋巴细胞计数和CD4（+）细胞计数显着增加（p <0.05）。结论：CTLA-4外显子多态性可能影响日本结节病患者的BAL液淋巴细胞谱。

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