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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Shedding new light on genetic dark matter | Melhem and Devlin Genome Medicine 2010 2 79 http genomemedicine.eom content 2 10 79 Genome Medicine COMMENTARY L__ Shedding new light on genetic dark matter Nadine Melhem and Bernie Devlin Abstract Discoveries from genome-wide association studies have contributed to our knowledge of the genetic etiology of many complex diseases. However these account for only a small fraction of each disease s heritability. Here we comment on approaches currently available to uncover more of the genetic dark matter including an approach introduced recently by Naukkarinen and colleagues. These authors propose a method for distinguishing between gene expression driven by genetic variation and that driven by non-genetic factors. This dichotomy allows investigators to focus statistical tests and further molecular analyses on a smaller set of genes thereby discovering new genetic variation affecting risk for disease. We need more methods like this one if we are to shed a powerful light on dark matter. By enhancing our understanding of molecular genetic etiology such methods will help us to understand disease processes better and will advance the promise of personalized medicine. Background The past three decades of studies have unveiled some of the genetic underpinnings of human disease. For complex diseases those with obscure genetic roots discoveries have accelerated recently owing to a bloom of genomewide association studies GWASs 1 . Nevertheless even for the most successful cases such as inflammatory and ulcerative bowel disease 2 3 discoveries account for only a fraction often small of the disease s heritability. These yet to be discovered genetic variants comprise the missing heritability or the genetic dark matter for disease. State of dark matter Heritability the proportion of trait variability explained by genetic factors has two somewhat different meanings. Correspondence devlinbj@upmc.edu Department of Psychiatry University of Pittsburgh School of Medicine 3811 O .
