Mapping autism risk loci using genetic linkage and chromosomal rearrangements

利用遗传连锁和染色体重排绘制自闭症风险基因位点图谱

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作者：Szatmari,Peter,Paterson,Andrew D,Zwaigenbaum,Lonnie,Roberts,Wendy,Brian,Jessica,Liu,Xiao-Qing,Vincent,John B,Skaug,Jennifer L,Thompson,Ann P,Senman,Lili,Feuk,Lars,Qian,Cheng,Bryson,Susan E,Jones,Marshall B,Marshall,Christian R,Scherer,Stephen W,Vieland,Veronica J,Bartlett,Christopher,Mangin,La Vonne,Goedken,Rhinda,Segre,Alberto,Pericak-Vance,Margaret A,Cuccaro,Michael L,Gilbert,John R,Wright,Harry H,Abramson,Ruth K,Betancur,Catalina,Bourgeron,Thomas,Gillberg,Christopher,Leboyer,Marion,Buxbaum,Joseph D,Davis,Kenneth L,Hollander,Eric,Silverman,Jeremy M,Hallmayer,Joachim,Lotspeich,Linda,Sutcliffe,James S,Haines,Jonathan L,Folstein,Susan E,Piven,Joseph,Wassink,Thomas H,Sheffield,Val,Geschwind,Daniel H,Bucan,Maja,Brown,W Ted,Cantor,Rita M,Constantino,John N,Gilliam,T Conrad,Herbert,Martha,Lajonchere,Clara,Ledbetter,David H,Lese-Martin,Christa,Miller,Janet,Nelson,Stan,Samango-Sprouse,Carol A,Spence,Sarah,State,Matthew,Tanzi,Rudolph E,Coon,Hilary,Dawson,Geraldine,Devlin,Bernie,Estes,Annette,Flodman,Pamela,Klei,Lambertus,McMahon,William M,Minshew,Nancy,Munson,Jeff,Korvatska,Elena,Rodier,Patricia M,Schellenberg,Gerard D,Smith,Moyra,Spence,M Anne,Stodgell,Chris,Tepper,Ping Guo,Wijsman,Ellen M,Yu,Chang-En,Rogé,Bernadette,Mantoulan,Carine,Wittemeyer,Kerstin,Poustka,Annemarie,Felder,Bärbel,Klauck,Sabine M,Schuster,Claudia,Poustka,Fritz,Bölte,Sven,Feineis-Matthews,Sabine,Herbrecht,Evelyn,Schmötzer,Gabi,Tsiantis,John,Papanikolaou,Katerina,Maestrini,Elena,Bacchelli,Elena,Blasi,Francesca,Carone,Simona,Toma,Claudio,Van Engeland,Herman,de Jonge,Maretha,Kemner,Chantal,Koop,Frederieke,Langemeijer,Marjolein,Hijmans,Channa,Staal,Wouter G,Baird,Gillian,Bolton,Patrick F,Rutter,Michael L,Weisblatt,Emma,Green,Jonathan,Aldred,Catherine,Wilkinson,Julie-Anne,Pickles,Andrew,Le Couteur,Ann,Berney,Tom,McConachie,Helen,Bailey,Anthony J,Francis,Kostas,Honeyman,Gemma,Hutchinson,Aislinn,Parr,Jeremy R,Wallace,Simon,Monaco,Anthony P,Barnby,Gabrielle,Kobayashi,Kazuhiro,Lamb,Janine A,Sousa,Ines,Sykes,Nuala,Cook,Edwin H,Guter,Stephen J,Leventhal,Bennett L,Salt,Jeff,Lord,Catherine,Corsello,Christina,Hus,Vanessa,Weeks,Daniel E,Volkmar,Fred,Tauber,Maïté,Fombonne,Eric,Shih,Andy,Meyer,Kacie J
期刊：Nature Genetics影响因子：29.000
时间：2007起止号：2007 Mar;39(3):319-28
doi：10.1038/ng1985研究方向： 神经科学
疾病类型： 自闭症

Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

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