A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
复制标题
DOI：
10.1016/j.ajhg.2017.08.006
复制
发表时间：
2017-09-07
影响因子：
9.8
通讯作者：
Furniss, Dominic
中科院分区：
文献类型：
--
作者：
Ng, Michael;Thakkar, Dipti;Furniss, Dominic
患有Dupuytren病（DD）的个体在多个专业的内科医生和外科医生中都很常见。这是一种越来越常见和致残性的掌筋膜纤维增生性疾病，可导致手指屈曲挛缩，并与其他组织特异性纤维化相关。DD影响5%至25%的欧洲人后裔，是最常见的结缔组织遗传性疾病。我们进行了迄今为止最大的GWAS研究，研究对象是来自英国的经外科手术证实诊断为DD的个体，并在英国、荷兰和德国的个体中进行了重复研究。我们验证了之前描述的所有9个信号的关联，并发现了17个额外的p变异
Individuals with Dupuytren disease (DD) are commonly seen by physicians and surgeons across multiple specialties. It is an increasingly common and disabling fibroproliferative disorder of the palmar fascia, which leads to flexion contractures of the digits, and is associated with other tissue-specific fibroses. DD affects between 5% and 25% of people of European descent and is the most common inherited disease of connective tissue. We undertook the largest GWAS to date in individuals with a surgically validated diagnosis of DD from the UK, with replication in British, Dutch, and German individuals. We validated association at all nine previously described signals and discovered 17 additional variants with p