Ward Kenneth
Department of Obstetrics, Gynecology and Women's Health and The Pacific Research Center for Early Human Development, University of Hawai'i, John A. Burns School of Medicine, Honolulu, Hawai'i, USA.
Clin Obstet Gynecol. 2008 Mar;51(1):74-83. doi: 10.1097/GRF.0b013e3181616545.
Genetic research of disease has recently turned from individual genes for rare but highly penetrant diseases (like cystic fibrosis) to focus on common, multigene disorders with polygenic inheritance patterns, such as preterm labor, preeclampsia, gestational diabetes, placental abruption, and thromboembolism. These conditions are characterized by multiple etiologies, chronicity, fetal involvement, adaptive clinical manifestations, and gene-environment interactions. As we understand genetic contributions to complex disease and build upon the genetic data and technology available, more effective and specific management and treatment options will become available for clinicians and their patients.
疾病的基因研究最近已从针对罕见但高度外显疾病(如囊性纤维化)的单个基因,转向关注具有多基因遗传模式的常见多基因疾病,如早产、先兆子痫、妊娠期糖尿病、胎盘早剥和血栓栓塞。这些病症的特点是病因多样、病程慢性、累及胎儿、临床表现具有适应性以及基因与环境相互作用。随着我们了解基因对复杂疾病的影响,并基于现有的基因数据和技术,临床医生及其患者将可获得更有效、更具针对性的管理和治疗方案。