Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia
Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia
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DOI：
10.1097/meg.0000000000000602
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发表时间：
2016-06-01
影响因子：
2.1
通讯作者：
Schumacher, Johannes
中科院分区：
文献类型：
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作者：
Becker, Jessica;Niebisch, Stefan;Schumacher, Johannes
背景和目的尽管HLA-DQ β 1中的八个残基插入最近被确定为特发性失弛缓症的遗传危险因素，但其他危险因素仍未知。在本研究中，我们进行了流行病学调查和基因型-表型（G × P）分析，以进一步了解贲门失弛缓症的病因。方法我们从696例贲门失弛缓症患者和410例对照，以及他们的一级亲属（2543例患者和1497例对照）的医疗数据。结果贲门失弛缓症患者在发病前易受病毒感染（P
Background and aim Although an eight-residue insertion in HLA-DQ beta 1 has been recently identified as a genetic risk factor for idiopathic achalasia, other risk factors are still unknown. In the present study, we carried out an epidemiological survey and a genotype-phenotype (G x P) analysis to gain further insights into the etiology of achalasia.Methods We obtained medical data from 696 achalasia patients and 410 controls, as well as their first-degree relatives (2543 of patients and 1497 of controls). For the Gx P analysis, we stratified the patients into HLA-DQ beta 1 insertion carriers and noncarriers.Results Our data show that patients are more often affected by viral infections before achalasia onset (P