Abstract：
BACKGROUND:The search for susceptibility genes in autism and autism spectrum disorders (ASD) has been hindered by the possible small effects of individual genes and by genetic (locus) heterogeneity. To overcome these obstacles, one method is to use autism-related subphenotypes instead of the categorical diagnosis of autism since they may be more directly related to the underlying susceptibility loci. Another strategy is to analyze subsets of families that meet certain clinical criteria to reduce genetic heterogeneity. METHODS:In this study, using 976 multiplex families from the Autism Genome Project consortium, we performed genome-wide linkage analyses on two quantitative subphenotypes, the total scores of the reciprocal social interaction domain and the restricted, repetitive, and stereotyped patterns of behavior domain from the Autism Diagnostic Interview-Revised. We also selected subsets of ASD families based on four binary subphenotypes, delayed onset of first words, delayed onset of first phrases, verbal status, and IQ > or = 70. RESULTS:When the ASD families with IQ > or = 70 were used, a logarithm of odds (LOD) score of 4.01 was obtained on chromosome 15q13.3-q14, which was previously linked to schizophrenia. We also obtained a LOD score of 3.40 on chromosome 11p15.4-p15.3 using the ASD families with delayed onset of first phrases. No significant evidence for linkage was obtained for the two quantitative traits. CONCLUSIONS:This study demonstrates that selection of informative subphenotypes to define a homogeneous set of ASD families could be very important in detecting the susceptibility loci in autism.
journal_name
Biol Psychiatryjournal_title
Biological psychiatryauthors
Liu XQ,Paterson AD,Szatmari P,Autism Genome Project Consortium.doi
10.1016/j.biopsych.2008.05.023subject
Has Abstractpub_date
2008-10-01 00:00:00pages
561-70issue
7eissn
0006-3223issn
1873-2402pii
S0006-3223(08)00686-0journal_volume
64pub_type
杂志文章abstract：BACKGROUND:Patients with autism show clinical features suggestive of abnormal processing of auditory and other sensory information. We hypothesized that low-functioning autistic subjects present abnormalities in discriminating simple auditory stimuli at sensory system preconscious stages of cortical processing. METHOD...
journal_title：Biological psychiatry
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journal_title：Biological psychiatry
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doi：10.1016/s0006-3223(98)00340-0
更新日期：1999-04-15 00:00:00
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pub_type： 临床试验,杂志文章
doi：10.1016/s0006-3223(01)01133-7
更新日期：2001-07-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2007.08.013
更新日期：2008-05-01 00:00:00
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更新日期：2003-02-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 临床试验,杂志文章
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更新日期：1998-02-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：
更新日期：1984-05-01 00:00:00
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doi：10.1016/j.biopsych.2004.11.040
更新日期：2005-02-15 00:00:00
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journal_title：Biological psychiatry
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更新日期：2003-06-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/0006-3223(92)90231-n
更新日期：1992-02-15 00:00:00
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doi：10.1016/s0006-3223(98)00029-8
更新日期：1998-10-15 00:00:00
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pub_type： 杂志文章
doi：10.1016/0006-3223(90)90646-j
更新日期：1990-01-15 00:00:00
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doi：10.1016/j.biopsych.2017.06.033
更新日期：2017-11-15 00:00:00
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journal_title：Biological psychiatry
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doi：10.1016/0006-3223(86)90007-7
更新日期：1986-01-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2013.10.009
更新日期：2014-08-01 00:00:00
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doi：10.1016/0006-3223(94)90639-4
更新日期：1994-10-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章,随机对照试验
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更新日期：2006-10-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2010.07.025
更新日期：2010-11-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2010.07.033
更新日期：2010-12-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(00)00915-x
更新日期：2000-09-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2013.05.019
更新日期：2014-01-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2011.06.016
更新日期：2011-10-01 00:00:00
