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A genome-wide scan for common alleles affecting risk for autism
- Source :
- Human Molecular Genetics, Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩, Anney, R, Klei, L, Pinto, D, Regan, R, Conroy, J, Magalhaes, T R, Correia, C, Abrahams, B S, Sykes, N, Pagnamenta, A T, Almeida, J, Bacchelli, E, Bailey, A J, Baird, G, Battaglia, A, Berney, T, Bolshakova, N, Boelte, S, Bolton, P F, Bourgeron, T, Brennan, S, Brian, J, Carson, A R, Casallo, G, Casey, J, Chu, S H, Cochrane, L, Corsello, C, Crawford, E L, Crossett, A, Dawson, G, de Jonge, M, Delorme, R, Drmic, I, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B A, Folstein, S E, Fombonne, E, Freitag, C M, Gilbert, J, Gillberg, C, Glessner, J T, Goldberg, J, Green, J, Guter, S J, Hakonarson, H, Heron, E A, Hill, M, Holt, R, Howe, J L, Hughes, G, Hus, V, Igliozzi, R, Kim, C, Klauck, S M, Kolevzon, A, Korvatska, O, Kustanovich, V, Lajonchere, C M, Lamb, J A, Laskawiec, M, Leboyer, M, Le Couteur, A, Leventhal, B L, Lionel, A C, Liu, X-Q, Lord, C, Lotspeich, L, Lund, S C, Maestrini, E, Mahoney, W, Mantoulan, C, Marshall, C R, McConachie, H, McDougle, C J, McGrath, J, McMahon, W M, Melhem, N M, Merikangas, A, Migita, O, Minshew, N J, Mirza, G K, Munson, J, Nelson, S F, Noakes, C, Noor, A, Nygren, G, Oliveira, G, Papanikolaou, K, Parr, J R, Parrini, B, Paton, T, Pickles, A, Piven, J, osey, D J, Poustka, A, Poustka, F, Prasad, A, Ragoussis, J, Renshaw, K, Rickaby, J, Roberts, W, Roeder, K, Roge, B, Rutter, M L, Bierut, L J, Rice, J P, Salt, J, Sansom, K, Sato, D, Segurado, R, Senman, L, Shah, N, Sheffield, V C, Soorya, L, Sousa, I, Stoppioni, V, Strawbridge, C, Tancredi, R, Tansey, K, Thiruvahindrapduram, B, Thompson, A P, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J B, Volkmar, F, Wallace, S, Wang, K, Wang, Z, Wassink, T H, Wing, K, Wittemeyer, K, Wood, S, Yaspan, B L, Zurawiecki, D, Zwaigenbaum, L, Betancur, C, Buxbaum, J D, Cantor, R M, Cook, E H, Coon, H, Cuccaro, M L, Gallagher, L, Geschwind, D H, Gill, M, Haines, J L, Miller, J, Monaco, A P, Nurnberger, J I, Paterson, A D, Pericak-Vance, M A, Schellenberg, G D, Scherer, S W, Sutcliffe, J S, Szatmari, P, Vicente, A M, Vieland, V J, Wijsman, E M, Devlin, B, Ennis, S & Hallmayer, J 2010, ' A genome-wide scan for common alleles affecting risk for autism ', Human Molecular Genetics, vol. 19, no. 20, ddq307, pp. 4072-4082 . https://doi.org/10.1093/hmg/ddq307, Human Molecular Genetics, 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
- Publication Year :
- 2010
- Publisher :
- HAL CCSD, 2010.
-
Abstract
- Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. Author has checked copyright TS 14.06.13 The subscript characters from the abstract have not copied across properly. TS
- Subjects :
- Genome-wide association study
[SDV.GEN] Life Sciences [q-bio]/Genetics
MESH: Genotype
0302 clinical medicine
Risk Factors
MESH: Risk Factors
Databases, Genetic
Copy-number variation
MESH: Genetic Variation
Genetics (clinical)
MESH: Databases, Genetic
Genetics
0303 health sciences
education.field_of_study
MESH: Polymorphism, Single Nucleotide
Association Studies Articles
MESH: Genetic Predisposition to Disease
General Medicine
MESH: European Continental Ancestry Group
Autism spectrum disorders
MESH: DNA Copy Number Variations
Genotyping
DNA Copy Number Variations
Genotype
Population
MESH: Autistic Disorder
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
White People
03 medical and health sciences
Genetic variation
Humans
Genetic Predisposition to Disease
ddc:610
Allele
Autistic Disorder
SNP association
education
Molecular Biology
Alleles
MESH: Genome, Human
030304 developmental biology
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Humans
Genome, Human
MESH: Alleles
Haplotype
Genetic Variation
Genetic architecture
Perturbações do Desenvolvimento Infantil e Saúde Mental
MESH: Genome-Wide Association Study
030217 neurology & neurosurgery
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 09646906 and 14602083
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics, Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩, Anney, R, Klei, L, Pinto, D, Regan, R, Conroy, J, Magalhaes, T R, Correia, C, Abrahams, B S, Sykes, N, Pagnamenta, A T, Almeida, J, Bacchelli, E, Bailey, A J, Baird, G, Battaglia, A, Berney, T, Bolshakova, N, Boelte, S, Bolton, P F, Bourgeron, T, Brennan, S, Brian, J, Carson, A R, Casallo, G, Casey, J, Chu, S H, Cochrane, L, Corsello, C, Crawford, E L, Crossett, A, Dawson, G, de Jonge, M, Delorme, R, Drmic, I, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B A, Folstein, S E, Fombonne, E, Freitag, C M, Gilbert, J, Gillberg, C, Glessner, J T, Goldberg, J, Green, J, Guter, S J, Hakonarson, H, Heron, E A, Hill, M, Holt, R, Howe, J L, Hughes, G, Hus, V, Igliozzi, R, Kim, C, Klauck, S M, Kolevzon, A, Korvatska, O, Kustanovich, V, Lajonchere, C M, Lamb, J A, Laskawiec, M, Leboyer, M, Le Couteur, A, Leventhal, B L, Lionel, A C, Liu, X-Q, Lord, C, Lotspeich, L, Lund, S C, Maestrini, E, Mahoney, W, Mantoulan, C, Marshall, C R, McConachie, H, McDougle, C J, McGrath, J, McMahon, W M, Melhem, N M, Merikangas, A, Migita, O, Minshew, N J, Mirza, G K, Munson, J, Nelson, S F, Noakes, C, Noor, A, Nygren, G, Oliveira, G, Papanikolaou, K, Parr, J R, Parrini, B, Paton, T, Pickles, A, Piven, J, osey, D J, Poustka, A, Poustka, F, Prasad, A, Ragoussis, J, Renshaw, K, Rickaby, J, Roberts, W, Roeder, K, Roge, B, Rutter, M L, Bierut, L J, Rice, J P, Salt, J, Sansom, K, Sato, D, Segurado, R, Senman, L, Shah, N, Sheffield, V C, Soorya, L, Sousa, I, Stoppioni, V, Strawbridge, C, Tancredi, R, Tansey, K, Thiruvahindrapduram, B, Thompson, A P, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J B, Volkmar, F, Wallace, S, Wang, K, Wang, Z, Wassink, T H, Wing, K, Wittemeyer, K, Wood, S, Yaspan, B L, Zurawiecki, D, Zwaigenbaum, L, Betancur, C, Buxbaum, J D, Cantor, R M, Cook, E H, Coon, H, Cuccaro, M L, Gallagher, L, Geschwind, D H, Gill, M, Haines, J L, Miller, J, Monaco, A P, Nurnberger, J I, Paterson, A D, Pericak-Vance, M A, Schellenberg, G D, Scherer, S W, Sutcliffe, J S, Szatmari, P, Vicente, A M, Vieland, V J, Wijsman, E M, Devlin, B, Ennis, S & Hallmayer, J 2010, ' A genome-wide scan for common alleles affecting risk for autism ', Human Molecular Genetics, vol. 19, no. 20, ddq307, pp. 4072-4082 . https://doi.org/10.1093/hmg/ddq307, Human Molecular Genetics, 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
- Accession number :
- edsair.doi.dedup.....6db05e54c82d3c414b0cd5e330ddecd2
- Full Text :
- https://doi.org/10.1093/hmg/ddq307⟩