在患有非常早期发病的炎症性肠病的儿童中,MEFV致病变异的高频率
Aasem Abu Shtaya1,2, Naama Orenstein3,4, Lily Bazak5
1Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. aasemab@hotmail.com.
Pediatric research
|May 11, 2024
概括
患有非常早期发病的炎症性肠病 (VEO-IBD) 的儿童对引起疾病的MEFV基因变异的携带率高出三倍. 在VEO-IBD病例中,建议对MEFV变异进行基因检测.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 儿科 儿科 儿科
背景情况:
- 在炎症性肠病 (IBD) 和家族地中海热 (FMF) 之间存在生物学相似之处.
- 家庭地中海热与MEFV基因的变异有关,MEFV基因调节免疫反应.
- 在VEO-IBD中调查MEFV变异载体率,可以了解潜在的共同遗传因素.
研究的目的:
- 确定导致疾病的MEFV变体在患有非常早期发病IBD (VEO-IBD) 的儿童中的载体频率.
- 为了比较VEO-IBD患者和不同种族的对照组之间的MEFV变异载体率.
主要方法:
- 对23名被诊断患有VEO-IBD的儿童进行了整体外基因组测序.
- 分析了MEFV单样和双样致病变体.
- 将VEO-IBD外体数据与250个疑似单一性疾病的对照组进行了比较.
主要成果:
- 超过一半 (52%) 的VEO-IBD患者携带至少一种MEFV致病变异.
- 这种运输率是对照组的三倍.
- 最常见的变体是p.M694V和p.E148Q;在13个种族的VEO-IBD中观察到更高的等位基频率.
结论:
- 引起疾病的MEFV变异应在VEO-IBD的遗传评估中考虑.
- 在VEO-IBD中MEFV变异的临床意义需要进一步调查.
- 对VEO-IBD的单一性测试应包括MEFV变种,因为可能存在遗传联系.
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