作者
Lauren A Weiss, Dan E Arking, Gene Discovery Project of Johns Hopkins & the Autism Consortium Writing group Daly Mark J. aravinda@ jhmi. edu mjdaly@ chgr. mgh. harvard. edu 1 2 b Chakravarti Aravinda aravinda@ jhmi. edu 3 c, Johns Hopkins University–NIMH genome scan team Arking Dan E. 3 Brune Camille W. 4 West Kristen 3 O’Connor Ashley 3 Hilton Gina 3 Tomlinson Rebecca L. 5 West Andrew B. 5 Cook Jr Edwin H. 4 Chakravarti Aravinda aravinda@ jhmi. edu 3 k, MGH Oulu study Pauls David 1 Moilanen Irma 67 Ebeling Hanna 67 Mattila Marja-Leena 67 Kuusikko Sanna 67 Jussila Katja 67 Ignatius Jaakko 67, MGH Iran study Sasanfar Roksana 1 8 Tolouei Ala 8 Ghadami Majid 8 Rostami Maryam 68 Hosseinipour Azam 8 Valujerdi Maryam 8, MGH EDSP study Santangelo Susan L. 1 Andresen Kara 1 69 Winkloski Brian 1 Haddad Stephen 1, Montreal Gauthier Julie 70 Mottron Laurent 71 Joober Ridha 27 Fombonne Eric 27 Rouleau Guy 71, Finland Rehnstrom Karola 72 73 von Wendt Lennart 72 73 Peltonen Leena 72 73 74
发表日期
2009/10/8
期刊
Nature
卷号
461
期号
7265
页码范围
802-808
出版商
Nature Publishing Group UK
简介
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was …
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LA Weiss, DE Arking… - Nature, 2009