Bittles Alan H
Centre for Comparative Genomics, Murdoch University, and School of Medical Sciences, Edith Cowan University, Perth, Australia.
Ann Pediatr Cardiol. 2011 Jul;4(2):111-6. doi: 10.4103/0974-2069.84637.
Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundaries within which most marriages are contracted, and the assessment of consanguinity within specific levels and types of marital union would improve and help to focus the study outcomes. At the same time, major discrepancies between studies in their reported prevalence and types of congenital heart disease suggest an urgent need for greater standardization in the classification and reporting of these disorders.
许多文章已发表，将近亲结婚与先天性心脏病患病率升高联系起来，室间隔缺损和房间隔缺损是最常被提及的疾病。虽然这些研究最初很有说服力，但仔细检查后发现，其中许多研究在设计以及研究对象和对照的招募方面存在根本性缺陷。改善病例与对照的匹配，包括认识到大多数婚姻发生在其中的长期存在的社区界限，并评估特定婚姻联盟水平和类型内的近亲关系，将改善并有助于聚焦研究结果。与此同时，不同研究在先天性心脏病报告患病率和类型方面的重大差异表明，迫切需要在这些疾病的分类和报告方面实现更大程度的标准化。
