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báo cáo khoa học: " Advances in the genetics of endometriosis"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Advances in the genetics of endometriosis | Dun et al. Genome Medicine 2010 2 75 http genomemedicine.eom content 2 10 75 w Genome Medicine REVIEW L_ Advances in the genetics of endometriosis Erica C Dun Robert N Taylor and Fritz Wieser Abstract Endometriosis is a gynecological disease characterized by implantation of endometrial tissue outside of the uterus. Early familial aggregation and twin studies noted a higher risk of endometriosis among relatives. Studies on the roles of the environment genetics and aberrant regulation in the endometrium and endometriotic lesions of women with endometriosis suggest that endometriosis arises from the interplay between genetic variants and environmental factors. Elucidating the hereditary component has proven difficult because multiple genes seem to produce a susceptibility to developing endometriosis. Molecular techniques including linkage and genome-wide analysis have identified candidate genes located near known loci related to development and regulation of the female reproductive tract. As new candidate genes are discovered and hereditary pathways identified using technologies such as genome-wide analysis the possibility of prevention and treatment becomes more tangible for millions of women affected by endometriosis. Here we discuss the advances of genetic research in endometriosis and describe technologies that have contributed to the current understanding of the genetic variability in endometriosis variability that includes regulatory polymorphisms in key genes. Introduction The complete sequencing of the human genome in 2001 revolutionized the molecular era of human disease 1 . Of the 3 billion chemical bases comprising the 46 human chromosomes approximately 30 000 genes have been mapped. For complex human conditions such as type 2 diabetes mellitus coronary artery disease and endometriosis the allelic architectures are difficult to characterize because they fail to show classic Mendelian Correspondence fwieser@emory.edu Department of Gynecology and .