Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment

被引:72
作者
Bartlett, CW
Flax, JF
Logue, MW
Smith, BJ
Vieland, VJ
Tallal, P
Brzustowicz, LM
机构
[1] Rutgers State Univ, Ctr Mol & Behav Neurosci, Newark, NJ 07102 USA
[2] Univ Iowa, Coll Med, Dept Psychiat, Iowa City, IA 52242 USA
[3] Rutgers State Univ, Dept Genet, Newark, NJ 07102 USA
[4] Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Psychiat, Newark, NJ 07103 USA
[5] Univ Iowa, Coll Publ Hlth, Program Publ Hlth Genet, Iowa City, IA USA
关键词
autism; language impairment; multiple data sets; heterogeneity; linkage analysis;
D O I
10.1159/000077385
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of language and language learning skills. This contrasts with autism, which is a pervasive developmental disorder defined by multiple impairments in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies and family data suggest that the two disorders may have genetic components in common. Two samples, from Canada and the US, selected for specific language impairment were genotyped at loci where such common genes are likely to reside. Significant evidence for linkage was previously observed at chromosome 13q21 in our Canadian sample (HLOD 3.56) and was confirmed in our US sample ( HLOD 2.61). Using the posterior probability of linkage (PPL) to combine evidence for linkage across the two samples yielded a PPL over 92%. Two additional loci on chromosome 2 and 7 showed weak evidence for linkage. However, a marker in the cystic fibrosis transmembrane conductance regulator (7q31) showed evidence for association to SLI, confirming results from another group (O'Brien et al. 2003). Our results indicate that using samples selected for components of the autism phenotype may be a useful adjunct to autism genetics. Copyright (C) 2004 S. Karger AG, Basel.
引用
收藏
页码:10 / 20
页数:11
相关论文
共 78 条
[41]   Significance levels in complex inheritance [J].
Morton, NE .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :690-697
[42]  
Morton NE, 1998, AM J HUM GENET, V63, P1252
[43]   FAMILY CHARACTERISTICS OF AUTISTIC-CHILDREN - A FURTHER REPORT [J].
NARAYAN, S ;
MOYES, B ;
WOLFF, S .
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1990, 20 (04) :523-535
[44]   Genetics of specific language impairment [J].
Nasir, J ;
Cohen, W ;
Cowie, H ;
Maclean, A ;
Watson, J ;
Seckl, J ;
O'Hare, A .
PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS, 2000, 63 (1-2) :101-107
[45]   FOXP2 is not a major susceptibility gene for autism or specific language impairment [J].
Newbury, DF ;
Bonora, E ;
Lamb, JA ;
Fisher, SE ;
Lai, CSL ;
Baird, G ;
Jannoun, L ;
Slonims, V ;
Stott, CM ;
Merricks, MJ ;
Bolton, PF ;
Bailey, AJ ;
Monaco, AP .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1318-1327
[46]  
Newbury DF, 2002, AM J HUM GENET, V70, P384
[47]   Association of specific language impairment (SLI) to the region of 7q31 [J].
O'Brien, EK ;
Zhang, XY ;
Nishimura, C ;
Tomblin, JB ;
Murray, JC .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) :1536-1543
[48]   Evaluating genetic heterogeneity in complex disorders [J].
Pal, DK ;
Greenberg, DA .
HUMAN HEREDITY, 2002, 53 (04) :216-226
[49]  
Palferman S, 2001, HUM MOL GENET, V10, P973
[50]  
Palferman S, 2001, AM J HUM GENET, V69, P570