Plenge Robert, Rioux John D
Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, USA.
Immunol Rev. 2006 Apr;210:40-51. doi: 10.1111/j.0105-2896.2006.00372.x.
There is a genetic basis to the most common immune-mediated diseases. Identifying disease susceptibility genes, however, has been a challenge. Only a few genes have been consistently replicated across multiple studies. These convincing examples provide insight into a genetic approach to common immune diseases as well as insight into disease pathogenesis. Here, we discuss several important concepts of a genetic study -- patterns, power, and proof -- and why these are germane in testing inherited variation for influence on disease. Recent developments in the fields of human genetics and genomics are overcoming limitations within the field, and we anticipate many exciting discoveries in the near future.
大多数常见的免疫介导疾病都有遗传基础。然而，识别疾病易感基因一直是一项挑战。只有少数基因在多项研究中得到了一致的重复验证。这些有说服力的例子为常见免疫疾病的遗传研究方法以及疾病发病机制提供了见解。在这里，我们讨论遗传研究的几个重要概念——模式、效力和证据——以及为什么这些在测试遗传变异对疾病的影响时至关重要。人类遗传学和基因组学领域的最新进展正在克服该领域内的局限性，我们预计在不久的将来会有许多令人兴奋的发现。
