Genome-wide scan for autism susceptibility genes

被引:385
作者
Philippe, A
Martinez, M
Guilloud-Bataille, M
Gillberg, C
Råstam, M
Sponheim, E
Coleman, M
Zappella, M
Aschauer, H
van Maldergem, L
Penet, C
Feingold, J
Brice, A
Leboyer, M
机构
[1] Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France
[2] Univ Paris 07, INSERM, U155, F-75005 Paris, France
[3] Hop St Louis, INSERM, U358, F-75010 Paris, France
[4] Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France
[5] Sahlgrens Univ Hosp, S-41345 Gothenburg, Sweden
关键词
D O I
10.1093/hmg/8.5.805
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P-values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11-q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp, We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013).
引用
收藏
页码:805 / 812
页数:8
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