@article{3057162,
    title = "A genome-wide linkage and association scan reveals novel loci for autism",
    author = "Weiss, L.A. and Arking, D.E. and Daly, M.J. and Chakravarti, A. and Brune, C.W. and West, K. and O'Connor, A. and Hilton, G. and Tomlinson, R.L. and West, A.B. and Cook Jr., E.H. and Green, T. and Chang, S.-C. and Gabriel, S. and Gates, C. and Hanson, E.M. and Kirby, A. and Korn, J. and Kuruvilla, F. and McCarroll, S. and Morrow, E.M. and Neale, B. and Purcell, S. and Sasanfar, R. and Sougnez, C. and Stevens, C. and Altshuler, D. and Gusella, J. and Santangelo, S.L. and Sklar, P. and Tanzi, R. and Anney, R. and Bailey, A.J. and Baird, G. and Battaglia, A. and Berney, T. and Betancur, C. and Bölte, S. and Bolton, P.F. and Brian, J. and Bryson, S.E. and Buxbaum, J.D. and Cabrito, I. and Cai, G. and Cantor, R.M. and Coon, H. and Conroy, J. and Correia, C. and Corsello, C. and Crawford, E.L. and Cuccaro, M.L. and Dawson, G. and De Jonge, M. and Devlin, B. and Duketis, E. and Ennis, S. and Estes, A. and Farrar, P. and Fombonne, E. and Freitag, C.M. and Gallagher, L. and Geschwind, D.H. and Gilbert, J. and Gill, M. and Gillberg, C. and Goldberg, J. and Green, A. and Green, J. and Guter, S.J. and Haines, J.L. and Hallmayer, J.F. and Hus, V. and Klauck, S.M. and Korvatska, O. and Lamb, J.A. and Laskawiec, M. and Leboyer, M. and Le Couteur, A. and Leventha, B.L. and Liu, X.-Q. and Lord, C. and Lotspeich, L.J. and Maestrini, E. and Magalhaes, T. and Mahoney, W. and Mantoulan, C. and McConachie, H. and McDougle, C.J. and McMahon, W.M. and Marshall, C.R. and Miller, J. and Minshew, N.J. and Monaco, A.P. and Munson, J. and Nurnberger Jr., J.I. and Oliveira, G. and Pagnamenta, A. and Papanikolaou, K. and Parr, J.R. and Paterson, A.D. and Pericak-Vance, M.A. and Pickles, A. and Pinto, D. and Piven, J. and Posey, D.J. and Poustka, A. and Poustka, F. and Regan, R. and Reichert, J. and Renshaw, K. and Roberts, W. and Roge, B. and Rutter, M.L. and Salt, J. and Schellenberg, G.D. and Scherer, S.W. and Sheffield, V. and Sutcliffe, J.S. and Szatmari, P. and Tansey, K. and Thompson, A.P. and Tsiantis, J. and Van Engeland, H. and Vicente, A.M. and Vieland, V.J. and Volkmar, F. and Wallace, S. and Wassink, T.H. and Wijsman, E.M. and Wing, K. and Wittemeyer, K. and Yaspan, B.L. and Zwaigenbaum, L. and Yoo, S.-Y. and Hill, R.S. and Mukaddes, N.M. and Balkhy, S. and Gascon, G. and Al-Saad, S. and Hashmi, A. and Ware, J. and Joseph, R.M. and LeClair, E. and Partlow, J.N. and Barry, B. and Walsh, C.A. and Pauls, D. and Moilanen, I. and Ebeling, H. and Mattila, M.-L. and Kuusikko, S. and Jussila, K. and Ignatius, J. and Tolouei, A. and Ghadami, M. and Rostami, M. and Hosseinipour, A. and Valujerdi, M. and Andresen, K. and Winkloski, B. and Haddad, S. and Kunkel, L. and Kohane, Z. and Tran, T. and Won Kong, S. and O'Neil, S.B. and Hundley, R. and Holm, I. and Peters, H. and Baroni, E. and Cangialose, A. and Jackson, L. and Albers, L. and Becker, R. and Bridgemohan, C. and Friedman, S. and Munir, K. and Nazir, R. and Palfrey, J. and Schonwald, A. and Simmons, E. and Rappaport, L.A. and Gauthier, J. and Mottron, L. and Joober, R. and Rouleau, G. and Rehnstrom, K. and Von Wendt, L. and Peltonen, L.",
    journal = "Nature",
    year = "2009",
    volume = "461",
    number = "7265",
    pages = "802-808",
    publisher = "Nature Publishing Group",
    issn = "0028-0836",
    doi = "10.1038/nature08490",
    keywords = "brain;  chromosome;  gene expression;  genomics;  genotype;  heritability;  hominid;  mental health;  nervous system disorder;  neurology;  polymorphism, article;  autism;  cell adhesion;  gene mapping;  gene mutation;  genetic linkage;  genetic variability;  genome;  human;  phenotype;  priority journal;  single nucleotide polymorphism",
    abstract = "Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 × 10-7). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants."
}