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; 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; Chantal Kemner; Autism Genome Project Consortium

doi:10.1038/ng1985

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 GoedkenAlberto 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, Chantal Kemner, Autism Genome Project Consortium

Chair Kemner

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	319-28
Number of pages	10
Journal	Nature Genetics
Volume	39
Issue number	3
DOIs	https://doi.org/10.1038/ng1985
Publication status	Published - 2007

Keywords

Autistic Disorder
Chromosome Aberrations
Chromosome Mapping
Family
Female
Genetic Linkage
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Lod Score
Male
Risk Factors

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10.1038/ng1985

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Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.-Q., Vincent, J. B., Skaug, J. L., Thompson, A. P., Senman, L., Feuk, L., Qian, C., Bryson, S. E., Jones, M. B., Marshall, C. R., Scherer, S. W., Vieland, V. J., Bartlett, C., Mangin, L. V., ... Autism Genome Project Consortium (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319-28. https://doi.org/10.1038/ng1985

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title = "Mapping autism risk loci using genetic linkage and chromosomal rearrangements",

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.",

keywords = "Autistic Disorder, Chromosome Aberrations, Chromosome Mapping, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Lod Score, Male, Risk Factors",

author = "Peter Szatmari and Paterson, {Andrew D} and Lonnie Zwaigenbaum and Wendy Roberts and Jessica Brian and Xiao-Qing Liu and Vincent, {John B} and Skaug, {Jennifer L} and Thompson, {Ann P} and Lili Senman and Lars Feuk and Cheng Qian and Bryson, {Susan E} and Jones, {Marshall B} and Marshall, {Christian R} and Scherer, {Stephen W} and Vieland, {Veronica J} and Christopher Bartlett and Mangin, {La Vonne} and Rhinda Goedken and Alberto Segre and Pericak-Vance, {Margaret A} and Cuccaro, {Michael L} and Gilbert, {John R} and Wright, {Harry H} and Abramson, {Ruth K} and Catalina Betancur and Thomas Bourgeron and Christopher Gillberg and Marion Leboyer and Buxbaum, {Joseph D} and Davis, {Kenneth L} and Eric Hollander and Silverman, {Jeremy M} and Joachim Hallmayer and Linda Lotspeich and Sutcliffe, {James S} and Haines, {Jonathan L} and Folstein, {Susan E} and Joseph Piven and Wassink, {Thomas H} and Val Sheffield and Geschwind, {Daniel H} and Maja Bucan and Brown, {W Ted} and Cantor, {Rita M} and Constantino, {John N} and Gilliam, {T Conrad} and Martha Herbert and Chantal Kemner and {Autism Genome Project Consortium}",

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doi = "10.1038/ng1985",

language = "English",

volume = "39",

pages = "319--28",

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Szatmari, P, Paterson, AD, Zwaigenbaum, L, Roberts, W, Brian, J, Liu, X-Q, 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, Kemner, C & Autism Genome Project Consortium 2007, 'Mapping autism risk loci using genetic linkage and chromosomal rearrangements', Nature Genetics, vol. 39, no. 3, pp. 319-28. https://doi.org/10.1038/ng1985

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T1 - Mapping autism risk loci using genetic linkage and chromosomal rearrangements

AU - Szatmari, Peter

AU - Paterson, Andrew D

AU - Zwaigenbaum, Lonnie

AU - Roberts, Wendy

AU - Brian, Jessica

AU - Liu, Xiao-Qing

AU - Vincent, John B

AU - Skaug, Jennifer L

AU - Thompson, Ann P

AU - Senman, Lili

AU - Feuk, Lars

AU - Qian, Cheng

AU - Bryson, Susan E

AU - Jones, Marshall B

AU - Marshall, Christian R

AU - Scherer, Stephen W

AU - Vieland, Veronica J

AU - Bartlett, Christopher

AU - Mangin, La Vonne

AU - Goedken, Rhinda

AU - Segre, Alberto

AU - Pericak-Vance, Margaret A

AU - Cuccaro, Michael L

AU - Gilbert, John R

AU - Wright, Harry H

AU - Abramson, Ruth K

AU - Betancur, Catalina

AU - Bourgeron, Thomas

AU - Gillberg, Christopher

AU - Leboyer, Marion

AU - Buxbaum, Joseph D

AU - Davis, Kenneth L

AU - Hollander, Eric

AU - Silverman, Jeremy M

AU - Hallmayer, Joachim

AU - Lotspeich, Linda

AU - Sutcliffe, James S

AU - Haines, Jonathan L

AU - Folstein, Susan E

AU - Piven, Joseph

AU - Wassink, Thomas H

AU - Sheffield, Val

AU - Geschwind, Daniel H

AU - Bucan, Maja

AU - Brown, W Ted

AU - Cantor, Rita M

AU - Constantino, John N

AU - Gilliam, T Conrad

AU - Herbert, Martha

AU - Kemner, Chantal

AU - Autism Genome Project Consortium

PY - 2007

Y1 - 2007

N2 - 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.

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 1,181 [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.

KW - Autistic Disorder

KW - Chromosome Aberrations

KW - Chromosome Mapping

KW - Family

KW - Female

KW - Genetic Linkage

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Genetic Variation

KW - Humans

KW - Lod Score

KW - Male

KW - Risk Factors

U2 - 10.1038/ng1985

DO - 10.1038/ng1985

M3 - Article

C2 - 17322880

SN - 1061-4036

VL - 39

SP - 319

EP - 328

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Abstract

Keywords

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