Mapping autism risk loci using genetic linkage and chromosomal rearrangements

被引：1006

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. ^{[1
]}

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

机构：

[1] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8N 3Z5, Canada

[2] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[3] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada

[4] McMaster Univ, Dept Pediat, Hamilton, ON L8N 3Z5, Canada

[5] Hosp Sick Children, Autism Res Unit, Toronto, ON M5G 1X8, Canada

[6] Univ Toronto, Clarke Inst, Ctr Addist & Mental Hlth, Toronto, ON M5G 1X8, Canada

[7] Univ Toronto, Clarke Inst, Dept Psychiat, Toronto, ON M5G 1X8, Canada

[8] Dalhousie Univ, Izaak Walton Killam Hlth Ctr, Dept Pediat, Halifax, NS B3K 6R8, Canada

[9] Dalhousie Univ, Izaak Walton Killam Hlth Ctr, Dept Psychol, Halifax, NS B3K 6R8, Canada

[10] Penn State Univ, Coll Med, Dept Neural & Behav Sci, Hershey, PA 17033 USA

[11] Columbus Childrens Res Inst, Ctr Quantitat & Computat Biol, Columbus, OH 43205 USA

[12] Univ Iowa, Dept Comp Sci, Iowa City, IA 52242 USA

[13] Univ Miami, Miller Sch Med, Inst Human Genet, Miami, FL 33101 USA

[14] Univ S Carolina, Columbia, SC 29208 USA

[15] Univ Paris 12, INSERM, U513, F-94000 Creteil, France

[16] Inst Pasteur, F-75013 Paris, France

[17] Univ Gothenburg, Dept Child & Adolescent Psychiat, S-41119 Gothenburg, Sweden

[18] Grp Hosp Henri Mondor Albert Chenevier, APHP, Dept Psychiat, F-94000 Creteil, France

[19] Mt Sinai Sch Med, Seaver Autism Res Ctr, Dept Psychiat, New York, NY 10029 USA

[20] Mt Sinai Sch Med, Greater New York Autism Ctr Excellence, Dept Psychiat, New York, NY 10029 USA

[21] Stanford Univ, Dept Psychiat, Palo Alto, CA 94304 USA

[22] Vanderbilt Univ, Ctr Mol Neurosci, Nashville, TN 37232 USA

[23] Vanderbilt Univ, Ctr Human Genet Res, Nashville, TN 37232 USA

[24] Johns Hopkins Univ, Dept Psychiat, Baltimore, MD 21287 USA

[25] Univ N Carolina, Chapel Hill, NC 27599 USA

[26] Univ Iowa, Iowa City, IA 52242 USA

[27] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90095 USA

[28] Univ Penn, Philadelphia, PA 19104 USA

[29] New York State Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA

[30] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

[31] Washington Univ, Sch Med, St Louis, MO 63130 USA

[32] Univ Chicago, Chicago, IL 60637 USA

[33] Harvard Univ, Sch Med, Boston, MA 02115 USA

[34] Cure Autism Now, Los Angeles, CA 90036 USA

[35] Emory Univ, Atlanta, GA 30322 USA

[36] George Washington Univ, Washington, DC 20052 USA

[37] Univ Calif Los Angeles, Los Angeles, CA 90095 USA

[38] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA

[39] Massachusetts Gen Hosp, Boston, MA 02114 USA

[40] Univ Utah, Sch Med, Dept Psychiat, Salt Lake City, UT 84112 USA

[41] Univ Washington, Dept Psychol, Seattle, WA 98195 USA

[42] Univ Washington, Ctr Human Dev & Disabil, Seattle, WA 98195 USA

[43] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA

[44] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA 15213 USA

[45] Univ Calif Irvine, Dept Pediat, Irvine, CA 92697 USA

[46] Pugent Sound VA Hlth Care Syst, Ctr Geriatr Res Educ & Clin, Seattle, WA 98108 USA

[47] Univ Washington, Dept Med, Seattle, WA 98104 USA

[48] Univ Rochester, Med Ctr, Dept OB GYN, Rochester, NY 14642 USA

[49] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

[50] Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / 03期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng1985

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 1,168 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.

引用

页码：319 / 328

页数：10

共 51 条

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