Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3094434 54 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2007 Nature Publishing Group.
Έτος δημοσίευσης:
2007
Συγγραφείς:
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.
Goedken, R.
Segre, A.
Pericak-Vance, M.A.
Cuccaro, M.L.
Gilbert, J.R.
Wright, H.H.
Abramson, R.K.
Betancur, C.
Bourgeron, T.
Gillberg, C.
Leboyer, M.
Buxbaum, J.D.
Davis, K.L.
Hollander, E.
Silverman, J.M.
Hallmayer, J.
Lotspeich, L.
Sutcliffe, J.S.
Haines, J.L.
Folstein, S.E.
Piven, J.
Wassink, T.H.
Sheffield, V.
Geschwind, D.H.
Bucan, M.
Brown, W.T.
Cantor, R.M.
Constantino, J.N.
Gilliam, T.C.
Herbert, M.
LaJonchere, C.
Ledbetter, D.H.
Lese-Martin, C.
Miller, J.
Nelson, S.
Samango-Sprouse, C.A.
Spence, S.
State, M.
Tanzi, R.E.
Coon, H.
Dawson, G.
Devlin, B.
Estes, A.
Flodman, P.
Klei, L.
McMahon, W.M.
Minshew, N.
Munson, J.
Korvatska, E.
Rodier, P.M.
Schellenberg, G.D.
Smith, M.
Spence, M.A.
Stodgell, C.
Tepper, P.G.
Wijsman, E.M.
Yu, C.-E.
Rogé, B.
Mantoulan, C.
Wittemeyer, K.
Poustka, A.
Felder, B.
Klauck, S.M.
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, W.G.
Baird, G.
Bolton, P.F.
Rutter, M.L.
Weisblatt, E.
Green, J.
Aldred, C.
Wilkinson, J.-A.
Pickles, A.
Le Couteur, A.
Berney, T.
McConachie, H.
Bailey, A.J.
Francis, K.
Honeyman, G.
Hutchinson, A.
Parr, J.R.
Wallace, S.
Monaco, A.P.
Barnby, G.
Kobayashi, K.
Lamb, J.A.
Sousa, I.
Sykes, N.
Cook, E.H.
Guter, S.J.
Leventhal, B.L.
Salt, J.
Lord, C.
Corsello, C.
Hus, V.
Weeks, D.E.
Volkmar, F.
Tauber, M.
Fombonne, E.
Shih, A.
Περιοδικό:
Nature Genetics
Τόμος:
39
Αριθμός / τεύχος:
3
Σελίδες:
319-328
Λέξεις-κλειδιά:
glutamic acid; neurexin; neuroligin, adult; analytical equipment; article; autism; chromosome 11p; chromosome rearrangement; controlled study; family; female; gene locus; gene mapping; genetic analysis; genetic linkage; genetic risk; genetic variability; human; major clinical study; male; microarray analysis; priority journal; sample size; single nucleotide polymorphism; synaptogenesis, Autistic Disorder; Chromosome Aberrations; Chromosome Mapping; Family; Female; Genetic Predisposition to Disease; Genetic Screening; Humans; Linkage (Genetics); Lod Score; Male; Risk Factors; Variation (Genetics)
Επίσημο URL (Εκδότης):
DOI:
10.1038/ng1985
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