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The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.

作者信息

Collins Julianne S, Schroer Richard J, Bird Jeffrey, Michaelis Ron C

机构信息

J. C. Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

出版信息

J Autism Dev Disord. 2003 Jun;33(3):343-8. doi: 10.1023/a:1024414803151.

DOI:10.1023/a:1024414803151
PMID:12908836
Abstract

A recent study has suggested that the A218G polymorphism in the homeobox A1 (HOXA1) gene may influence susceptibility to autism. We have determined the frequencies of the A and G alleles of the HOXA1 A218G polymorphism in both white and black patients from the South Carolina Autism Project (SCAP) and controls. Marked differences were found in allele frequencies between the races, but no deviations from Hardy-Weinberg equilibrium were seen in either white or black SCAP family members. More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism.

摘要

相似文献

1
The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.
J Autism Dev Disord. 2003 Jun;33(3):343-8. doi: 10.1023/a:1024414803151.
2
No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.在CPEA网络的一个样本中,没有证据表明自闭症易感性与HOXA1基因存在连锁关系。
Am J Med Genet. 2002 Aug 8;114(6):667-72. doi: 10.1002/ajmg.10603.
3
Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.HOXA1基因A218G多态性与自闭症患者头围增加之间的关联。
Biol Psychiatry. 2004 Feb 15;55(4):413-9. doi: 10.1016/j.biopsych.2003.10.005.
4
Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.HOXA1和HOXB1等位基因变体的发现:自闭症谱系障碍的遗传易感性。
Teratology. 2000 Dec;62(6):393-405. doi: 10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V.
5
HOXA1 gene variants influence head growth rates in humans.HOXA1基因变异影响人类头部生长速率。
Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):388-90. doi: 10.1002/ajmg.b.30469.
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Allelic variation within the putative autism spectrum disorder risk gene homeobox A1 and cerebellar maturation in typically developing children and adolescents.假定的自闭症谱系障碍风险基因同源盒 A1 内的等位基因变异与典型发育中的儿童和青少年的小脑成熟。
Autism Res. 2012 Apr;5(2):93-100. doi: 10.1002/aur.238. Epub 2012 Feb 22.
7
An integrated meta-analysis of two variants in HOXA1/HOXB1 and their effect on the risk of autism spectrum disorders.HOXA1/HOXB1 两个变异体的综合荟萃分析及其对自闭症谱系障碍风险的影响。
PLoS One. 2011;6(9):e25603. doi: 10.1371/journal.pone.0025603. Epub 2011 Sep 29.
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No association between allelic variants of HOXA1/HOXB1 and autism.HOXA1/HOXB1等位基因变异与自闭症之间无关联。
Am J Med Genet B Neuropsychiatr Genet. 2004 Jan 1;124B(1):64-7. doi: 10.1002/ajmg.b.20094.
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HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans.
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10
Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.台湾汉族人群中 CNS 模式基因与自闭症的关联研究。
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引用本文的文献

1
Allelic variation within the putative autism spectrum disorder risk gene homeobox A1 and cerebellar maturation in typically developing children and adolescents.假定的自闭症谱系障碍风险基因同源盒 A1 内的等位基因变异与典型发育中的儿童和青少年的小脑成熟。
Autism Res. 2012 Apr;5(2):93-100. doi: 10.1002/aur.238. Epub 2012 Feb 22.
2
An integrated meta-analysis of two variants in HOXA1/HOXB1 and their effect on the risk of autism spectrum disorders.HOXA1/HOXB1 两个变异体的综合荟萃分析及其对自闭症谱系障碍风险的影响。
PLoS One. 2011;6(9):e25603. doi: 10.1371/journal.pone.0025603. Epub 2011 Sep 29.
3
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

本文引用的文献

1
Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.110个多重家庭中HoxA1和HoxB1基因变异与自闭症之间不存在关联。
Am J Med Genet. 2002 Jan 8;114(1):24-30. doi: 10.1002/ajmg.1618.
2
Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.HOXA1和HOXB1等位基因变体的发现:自闭症谱系障碍的遗传易感性。
Teratology. 2000 Dec;62(6):393-405. doi: 10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V.
3
An autosomal genomic screen for autism. Collaborative linkage study of autism.
高功能自闭症谱系障碍个体中的寡基因杂合性。
Hum Mol Genet. 2011 Sep 1;20(17):3366-75. doi: 10.1093/hmg/ddr243. Epub 2011 May 30.
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Detecting polymorphisms and mutations in candidate genes.检测候选基因中的多态性和突变。
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一项自闭症的常染色体基因组筛查。自闭症的协作性连锁研究。
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A genomic screen of autism: evidence for a multilocus etiology.自闭症的基因组筛查:多基因病因的证据
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Hum Mol Genet. 1999 May;8(5):805-12. doi: 10.1093/hmg/8.5.805.
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8
A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.一项针对自闭症的全基因组筛查,有证据表明与7号染色体长臂上的一个区域存在连锁关系。国际自闭症分子遗传学研究联盟。
Hum Mol Genet. 1998 Mar;7(3):571-8. doi: 10.1093/hmg/7.3.571.
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Autism and maternally derived aberrations of chromosome 15q.自闭症与源自母亲的15号染色体长臂畸变
Am J Med Genet. 1998 Apr 1;76(4):327-36. doi: 10.1002/(sici)1096-8628(19980401)76:4<327::aid-ajmg8>3.0.co;2-m.
10
A male with fetal valproate syndrome and autism.一名患有胎儿丙戊酸综合征和自闭症的男性。
Dev Med Child Neurol. 1997 Sep;39(9):632-4. doi: 10.1111/j.1469-8749.1997.tb07500.x.