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首页> 外文期刊>Journal of Clinical Medicine >The HLA Variant rs6903608 Is Associated with Disease Onset and Relapse of Immune-Mediated Thrombotic Thrombocytopenic Purpura in Caucasians
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The HLA Variant rs6903608 Is Associated with Disease Onset and Relapse of Immune-Mediated Thrombotic Thrombocytopenic Purpura in Caucasians

机译：HLA变体RS6903608与高加索人中的免疫介导的血栓形成血小板细胞脓性毒性疾病和复发相关

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Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare, life-threatening thrombotic microangiopathy caused by severe ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin motifs 13) deficiency, recurring in 30–50% of patients. The common human leukocyte antigen (HLA) variant rs6903608 was found to be associated with prevalent iTTP, but whether this variant is associated with disease relapse is unknown. To estimate the impact of rs6903608 on iTTP onset and relapse, we performed a case-control and cohort study in 161 Italian patients with a first iTTP episode between 2002 and 2018, and in 456 Italian controls. Variation in rs6903608 was strongly associated with iTTP onset (homozygotes odds ratio (OR) 4.68 (95% confidence interval (CI) 2.67 to 8.23); heterozygotes OR 1.64 (95%CI 0.95 to 2.83)), which occurred over three years earlier for each extra risk allele (β ?3.34, 95%CI ?6.69 to 0.02). Of 153 survivors (median follow-up 4.9 years (95%CI 3.7 to 6.1)), 44 (29%) relapsed. The risk allele homozygotes had a 46% (95%CI 36 to 57%) absolute risk of relapse by year 6, which was significantly higher than both heterozygotes (22% (95%CI 16 to 29%)) and reference allele homozygotes (30% (95%CI 23 to 39%)). In conclusion, HLA variant rs6903608 is a risk factor for both iTTP onset and relapse. This newly identified biomarker may help with recognizing patients at high risk of relapse, who would benefit from close monitoring or intensified immunosuppressive therapy.
机译：免疫介导的血栓形成血小板减少紫癜（ITTP）是由严重的Adamts13（Disintegin和金属蛋白酶13）缺乏的罕见，危及危及生命的血栓性微盲，缺乏，患者的30-50％重复。发现常见的人白细胞抗原（HLA）变异RS6903608与普遍存在的ITTP相关，但这种变体是否与疾病复发相关。为了估算RS6903608对ITTP发作和复发的影响，我们在2002年至2018年间的第一个ITTP集团和456名意大利对照组中进行了一个案例控制和队列研究。 RS6903608的变异与ITTP发作强烈关联（纯合子比率比（或）4.68（95％置信区间（CI）2.67至8.23）;杂合子或1.64（95％CI 0.95至2.83）），三年以前发生在三年内每个额外的风险等位基因（β？3.34,95％CI？6.69至0.02）。 153名幸存者（中位后续4.9岁（95％CI 3.7至6.1）），重复44（29％）。风险等位基因纯合蛋白在6年内具有46％（95％CI 36至57％），其绝对复发风险，显着高于杂合子（22％（95％（95％（95％）（95％CI 16至29％））和参考等位基因纯合酚（ 30％（95％CI 23至39％））。总之，HLA Variant RS6903608是ITTP发作和复发的危险因素。这种新发现的生物标志物可能有助于识别高风险的患者，他们将受益于密切监测或强化免疫抑制治疗。

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