The NRGI exon II missense variant is not associated with autism in the Central Valley of Costa Rica
The NRGI exon II missense variant is not associated with autism in the Central Valley of Costa Rica
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DOI：
10.1186/1471-244x-7-21
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发表时间：
2007-05-22
期刊：
影响因子：
4.4
通讯作者：
Manghi, Elina R.
中科院分区：
文献类型：
--
作者：
McInnes, Lynne A.;Ouchanov, Leonid;Manghi, Elina R.
背景：我们正在对哥斯达黎加中央谷的孤立人群（CVCR）进行自闭症的遗传学研究。一种新的神经调节蛋白1（NRG 1）错义变异（外显子11 G > T）最近与精神病和精神分裂症（SCZ）在同一人口isolate.Methods：我们基因型的NRG 1外显子11错义变异在146例自闭症，或自闭症谱系障碍，与CVCR血统，和双方的父母（N = 267父母）从143个独立的家庭。结果：146例中有4例发现NRG 1第11外显子G> T变异，其中1例为新发变异。在亲本非传递染色体中，变异频率分别为0.014和0.045。至少有6个延伸0.229 Mb的单倍型与T等位基因相关。三个独立的个人，没有个人或家族史的精神疾病，共享至少1 megalone单倍型5'的T allele.Conclusion：NRG 1外显子11错义变异是不相关的自闭症在CVCR。
Background: We are conducting a genetic study of autism in the isolated population of the Central Valley of Costa Rica (CVCR). A novel Neuregulin 1 (NRG1) missense variant ( exon 11 G > T) was recently associated with psychosis and schizophrenia (SCZ) in the same population isolate.Methods: We genotyped the NRG1 exon 11 missense variant in 146 cases with autism, or autism spectrum disorder, with CVCR ancestry, and both parents when available (N = 267 parents) from 143 independent families. Additional microsatellites were genotyped to examine haplotypes bearing the exon 11 variant.Results: The NRG1 exon 11 G> T variant was found in 4/146 cases including one de novo occurrence. The frequency of the variant in case chromosomes was 0.014 and 0.045 in the parental non-transmitted chromosomes. At least 6 haplotypes extending 0.229 Mb were associated with the T allele. Three independent individuals, with no personal or family history of psychiatric disorder, shared at least a 1 megabase haplotype 5' to the T allele.Conclusion: The NRG1 exon 11 missense variant is not associated with autism in the CVCR.