Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari, Andrew D. Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao Qing Liu, John B. Vincent, Jennifer L. Skaug, Ann P. Thompson, Lili Senman, Lars Feuk, Cheng Qian, Susan E. Bryson, Marshall B. Jones, Christian R. Marshall, Stephen W. Scherer, Veronica J. Vieland, Christopher Bartlett, La Vonne Mangin, Rhinda Goedken & 117 others Alberto Segre, Margaret A. Pericak-Vance, Michael L. Cuccaro, John R. Gilbert, Harry H. Wright, Ruth K. Abramson, Catalina Betancur, Thomas Bourgeron, Christopher Gillberg, Marion Leboyer, Joseph D. Buxbaum, Kenneth L. Davis, Eric Hollander, Jeremy M. Silverman, Joachim Hallmayer, Linda Lotspeich, James S. Sutcliffe, Jonathan L. Haines, Susan E. Folstein, Joseph Piven, Thomas H. Wassink, Val Sheffield, Daniel H. Geschwind, Maja Bucan, W. Ted Brown, Rita M. Cantor, John N. Constantino, T. Conrad Gilliam, Martha Herbert, Clara LaJonchere, David H. Ledbetter, Christa Lese-Martin, Janet Miller, Stan Nelson, Carol A. Samango-Sprouse, Sarah Spence, Matthew State, Rudolph E. Tanzi, Hilary Coon, Geraldine Dawson, Bernie Devlin, Annette Estes, Pamela Flodman, Lambertus Klei, William M. McMahon, Nancy Minshew, Jeff Munson, Elena Korvatska, Patricia M. Rodier, Gerard D. Schellenberg, Moyra Smith, M. Anne Spence, Chris Stodgell, Ping Guo Tepper, Ellen M. Wijsman, Chang En Yu, Bernadette Rogé, Carine Mantoulan, Kerstin Wittemeyer, Annemarie Poustka, Bärbel Felder, Sabine M. Klauck, Claudia Schuster, Fritz Poustka, Sven Bölte, Sabine Feineis-Matthews, Evelyn Herbrecht, Gabi Schmötzer, John Tsiantis, Katerina Papanikolaou, Elena Maestrini, Elena Bacchelli, Francesca Blasi, Simona Carone, Claudio Toma, Herman Van Engeland, Maretha De Jonge, Chantal Kemner, Frederike Koop, Marjolijn Langemeijer, Channa Hijimans, Wouter G. Staal, Gillian Baird, Patrick F. Bolton, Michael L. Rutter, Emma Weisblatt, Jonathan Green, Catherine Aldred, Julie Anne Wilkinson, Andrew Pickles, Ann Le Couteur, Tom Berney, Helen McConachie, Anthony J. Bailey, Kostas Francis, Gemma Honeyman, Aislinn Hutchinson, Jeremy R. Parr, Simon Wallace, Anthony P. Monaco, Gabrielle Barnby, Kazuhiro Kobayashi, Janine A. Lamb, Ines Sousa, Nuala Sykes, Edwin H. Cook, Stephen J. Guter, Bennett L. Leventhal, Jeff Salt, Catherine Lord, Christina Corsello, Vanessa Hus, Daniel E. Weeks, Fred Volkmar, Maïté Tauber, Eric Fombonne, Andy Shih

Research output: Contribution to journalArticle

990 Citations (Scopus)

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 1,168 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.

Original languageEnglish (US)
Pages (from-to)319-328
Number of pages10
JournalNature Genetics
Volume39
Issue number3
DOIs
StatePublished - Mar 2007
Externally publishedYes

Fingerprint

Genetic Linkage
Autistic Disorder
Sample Size
Single Nucleotide Polymorphism
Glutamic Acid
Chromosomes
Autism Spectrum Disorder
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., ... Shih, A. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319-328. https://doi.org/10.1038/ng1985

Mapping autism risk loci using genetic linkage and chromosomal rearrangements. / 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, Frederike; Langemeijer, Marjolijn; Hijimans, 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.

In: Nature Genetics, Vol. 39, No. 3, 03.2007, p. 319-328.

Research output: Contribution to journalArticle

Szatmari, P, Paterson, AD, Zwaigenbaum, L, Roberts, W, Brian, J, Liu, XQ, Vincent, JB, Skaug, JL, Thompson, AP, Senman, L, Feuk, L, Qian, C, Bryson, SE, Jones, MB, Marshall, CR, Scherer, SW, Vieland, VJ, Bartlett, C, Mangin, LV, Goedken, R, Segre, A, Pericak-Vance, MA, Cuccaro, ML, Gilbert, JR, Wright, HH, Abramson, RK, Betancur, C, Bourgeron, T, Gillberg, C, Leboyer, M, Buxbaum, JD, Davis, KL, Hollander, E, Silverman, JM, Hallmayer, J, Lotspeich, L, Sutcliffe, JS, Haines, JL, Folstein, SE, Piven, J, Wassink, TH, Sheffield, V, Geschwind, DH, Bucan, M, Brown, WT, Cantor, RM, Constantino, JN, Gilliam, TC, Herbert, M, LaJonchere, C, Ledbetter, DH, Lese-Martin, C, Miller, J, Nelson, S, Samango-Sprouse, CA, Spence, S, State, M, Tanzi, RE, Coon, H, Dawson, G, Devlin, B, Estes, A, Flodman, P, Klei, L, McMahon, WM, Minshew, N, Munson, J, Korvatska, E, Rodier, PM, Schellenberg, GD, Smith, M, Spence, MA, Stodgell, C, Tepper, PG, Wijsman, EM, Yu, CE, Rogé, B, Mantoulan, C, Wittemeyer, K, Poustka, A, Felder, B, Klauck, SM, Schuster, C, Poustka, F, Bölte, S, Feineis-Matthews, S, Herbrecht, E, Schmötzer, G, Tsiantis, J, Papanikolaou, K, Maestrini, E, Bacchelli, E, Blasi, F, Carone, S, Toma, C, Van Engeland, H, De Jonge, M, Kemner, C, Koop, F, Langemeijer, M, Hijimans, C, Staal, WG, Baird, G, Bolton, PF, Rutter, ML, Weisblatt, E, Green, J, Aldred, C, Wilkinson, JA, Pickles, A, Le Couteur, A, Berney, T, McConachie, H, Bailey, AJ, Francis, K, Honeyman, G, Hutchinson, A, Parr, JR, Wallace, S, Monaco, AP, Barnby, G, Kobayashi, K, Lamb, JA, Sousa, I, Sykes, N, Cook, EH, Guter, SJ, Leventhal, BL, Salt, J, Lord, C, Corsello, C, Hus, V, Weeks, DE, Volkmar, F, Tauber, M, Fombonne, E & Shih, A 2007, 'Mapping autism risk loci using genetic linkage and chromosomal rearrangements', Nature Genetics, vol. 39, no. 3, pp. 319-328. https://doi.org/10.1038/ng1985
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 2007 Mar;39(3):319-328. https://doi.org/10.1038/ng1985
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, Frederike ; Langemeijer, Marjolijn ; Hijimans, 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. / Mapping autism risk loci using genetic linkage and chromosomal rearrangements. In: Nature Genetics. 2007 ; Vol. 39, No. 3. pp. 319-328.
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AU - Bacchelli, Elena

AU - Blasi, Francesca

AU - Carone, Simona

AU - Toma, Claudio

AU - Van Engeland, Herman

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AU - Kemner, Chantal

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AU - Bolton, Patrick F.

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AU - Weisblatt, Emma

AU - Green, Jonathan

AU - Aldred, Catherine

AU - Wilkinson, Julie Anne

AU - Pickles, Andrew

AU - Le Couteur, Ann

AU - Berney, Tom

AU - McConachie, Helen

AU - Bailey, Anthony J.

AU - Francis, Kostas

AU - Honeyman, Gemma

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AU - Parr, Jeremy R.

AU - Wallace, Simon

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AU - Guter, Stephen J.

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AB - 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.

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