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báo cáo khoa học: " Genetic overlap between autism, schizophrenia and bipolar disorder"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Genetic overlap between autism, schizophrenia and bipolar disorder | Genome Medicine Review Genetic overlap between autism schizophrenia and bipolar disorder Liam S Carroll and Michael J Owen Address MRC Centre for Neuropsychiatric Genetics and Genomics Department of Psychological Medicine and Neurology Cardiff University Henry Wellcome Building Heath Park Cardiff CF14 4XN UK. Correspondence Michael J Owen. Email OwenMJ@cf.ac.uk Abstract There is strong evidence that genetic factors make substantial contributions to the etiology of autism schizophrenia and bipolar disorders with heritability estimates being at least 80 for each. These illnesses have complex inheritance with multiple genetic and environmental factors influencing disease risk however in psychiatry complex genetics is further compounded by phenotypic complexity. Autism schizophrenia and bipolar disorder are effectively syndromic constellations of symptoms that define groups of patients with broadly similar outcomes and responses to treatment. As such the diagnostic categories are likely to be heterogeneous and the boundaries between them somewhat arbitrary. Recent applications of whole-genome technologies have discovered rare copy number variants and common singlenucleotide polymorphisms that are associated with risk of developing these disorders. Furthermore these studies have shown an overlap between the genetic loci and even alleles that predispose to the different phenotypes. The findings have several implications. First they show that copy number variations are likely to be important risk factors for autism and schizophrenia whereas common single-nucleotide polymorphism alleles have a role in all disorders. Second they imply that there are specific genetic loci and alleles that increase an individual s risk of developing any of these disorders. Finally the findings suggest that some of the specific genetic loci implicated so far encode proteins such as neurexins and neuroligins that function in synaptic development and plasticity and therefore may represent a .