自闭症谱系障碍中性别特异性风险等位基因的证据。
Evidence for sex-specific risk alleles in autism spectrum disorder.
作者信息
Stone Jennifer L, Merriman Barry, Cantor Rita M, Yonan Amanda L, Gilliam T Conrad, Geschwind Daniel H, Nelson Stanley F
机构信息
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA.
出版信息
Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5.
Abstract
We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan is subdivided on the basis of the sex of affected children. This produces a significant excess in the total number of linkage peaks (P=1.3 x 10(-8)) and identifies a major male-specific linkage peak at chromosome 17q11 (P<.01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases.
摘要
我们通过监测受影响同胞对基因组扫描的家庭集合根据受影响儿童的性别进行细分时连锁的变化，研究了自闭症谱系障碍患病率中巨大性别偏差的遗传因素。这导致连锁峰总数显著增加（P = 1.3 x 10(-8)），并在17号染色体q11区域识别出一个主要的男性特异性连锁峰（P <.01）。这些结果表明，性别差异是自闭症遗传学中的一个重要因素；相同的策略可用于探索其他表现出显著性别偏差的复杂疾病中的这种可能性。
相似文献
1
Evidence for sex-specific risk alleles in autism spectrum disorder.自闭症谱系障碍中性别特异性风险等位基因的证据。
Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5.
2
Replication of autism linkage: fine-mapping peak at 17q21.自闭症连锁反应的复制：17号染色体长臂21区的精细定位峰值
Am J Hum Genet. 2005 Jun;76(6):1050-6. doi: 10.1086/430278. Epub 2005 Apr 1.
3
The genetics of autism.自闭症的遗传学
Pediatrics. 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472.
4
High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.高密度 SNP 关联研究发现，与自闭症相关的 17q21 染色体区域中的 CACNA1G 是一个新的候选基因。
Mol Psychiatry. 2010 Oct;15(10):996-1005. doi: 10.1038/mp.2009.41. Epub 2009 May 19.
5
A quantitative trait locus analysis of social responsiveness in multiplex autism families.多重自闭症家庭中社交反应性的数量性状基因座分析。
Am J Psychiatry. 2007 Apr;164(4):656-62. doi: 10.1176/ajp.2007.164.4.656.
6
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14.剖析自闭症的基因座异质性：与12号染色体q14区域存在显著连锁
Mol Psychiatry. 2007 Apr;12(4):376-84. doi: 10.1038/sj.mp.4001927. Epub 2006 Dec 19.
7
Toward localizing genes underlying cerebral asymmetry and mental health.迈向定位大脑不对称性和心理健康背后的基因。
Am J Med Genet B Neuropsychiatr Genet. 2005 May 5;135B(1):79-84. doi: 10.1002/ajmg.b.30141.
8
Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study.全基因组连锁分析与人类长寿：健康老龄化研究的遗传学分析。
Aging Cell. 2013 Apr;12(2):184-93. doi: 10.1111/acel.12039. Epub 2013 Feb 6.
9
Autism and the X chromosome: no linkage to microsatellite loci detected using the affected sibling pair method.自闭症与X染色体：采用患病同胞对法未检测到与微卫星位点的连锁关系。
Am J Med Genet. 2002 Apr 15;109(1):36-41. doi: 10.1002/ajmg.10138.
10
A genomewide scan for intelligence identifies quantitative trait loci on 2q and 6p.一项针对智力的全基因组扫描在2号染色体长臂和6号染色体短臂上鉴定出数量性状基因座。
Am J Hum Genet. 2005 Aug;77(2):318-26. doi: 10.1086/432647. Epub 2005 Jul 1.
引用本文的文献
1
The sociability spectrum: evidence from reciprocal genetic copy number variations.社交能力谱：来自互惠遗传拷贝数变异的证据。
Mol Autism. 2020 Jun 16;11(1):50. doi: 10.1186/s13229-020-00347-0.
2
A more efficient conditional mouse model of Dravet syndrome: Implications for epigenetic selection and sex-dependent behaviors.一种更有效的 Dravet 综合征条件性小鼠模型：对表观遗传选择和性别依赖性行为的影响。
J Neurosci Methods. 2019 Sep 1;325:108315. doi: 10.1016/j.jneumeth.2019.108315. Epub 2019 Jun 29.
3
Human Serotonin Transporter Coding Variation Establishes Conformational Bias with Functional Consequences.人类血清素转运蛋白编码变异建立了与功能后果相关的构象偏向。
ACS Chem Neurosci. 2019 Jul 17;10(7):3249-3260. doi: 10.1021/acschemneuro.8b00689. Epub 2019 Feb 5.
4
Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder.母亲血液中的血清素水平与自闭症谱系障碍患者的认知能力和核心症状有关。
J Am Acad Child Adolesc Psychiatry. 2018 Nov;57(11):867-875. doi: 10.1016/j.jaac.2018.06.025. Epub 2018 Sep 24.
5
RDoC-based categorization of amygdala functions and its implications in autism.基于 RDoC 的杏仁核功能分类及其在自闭症中的意义。
Neurosci Biobehav Rev. 2018 Jul;90:115-129. doi: 10.1016/j.neubiorev.2018.04.007. Epub 2018 Apr 13.
6
Bio-collections in autism research.自闭症研究中的生物样本库
Mol Autism. 2017 Jul 10;8:34. doi: 10.1186/s13229-017-0154-8. eCollection 2017.
7
Gestational Exposure to Air Pollution Alters Cortical Volume, Microglial Morphology, and Microglia-Neuron Interactions in a Sex-Specific Manner.孕期暴露于空气污染会以性别特异性方式改变皮质体积、小胶质细胞形态以及小胶质细胞与神经元的相互作用。
Front Synaptic Neurosci. 2017 May 31;9:10. doi: 10.3389/fnsyn.2017.00010. eCollection 2017.
8
Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder?自闭症谱系障碍中高血清素血症是否存在性别差异？
Autism Res. 2017 Aug;10(8):1417-1423. doi: 10.1002/aur.1791. Epub 2017 Apr 12.
9
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.利用血液血清素作为内表型来鉴定自闭症相关的新生和罕见变异。
Mol Autism. 2017 Mar 21;8:14. doi: 10.1186/s13229-017-0130-3. eCollection 2017.
10
Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders.NR1D1 这一与昼夜节律相关的基因在大脑发育中的作用：可能与自闭症谱系障碍的病理生理学有关。
Sci Rep. 2017 Mar 6;7:43945. doi: 10.1038/srep43945.
本文引用的文献
1
Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism.自闭症刻板强迫性子集中血清素转运体（SLC6A4）基因座的连锁与关联分析。
Am J Med Genet B Neuropsychiatr Genet. 2004 May 15;127B(1):104-12. doi: 10.1002/ajmg.b.20151.
2
Serotonin transporter gene and autism: a haplotype analysis in an Irish autistic population.血清素转运体基因与自闭症：爱尔兰自闭症群体的单倍型分析
Mol Psychiatry. 2004 Jun;9(6):587-93. doi: 10.1038/sj.mp.4001459.
3
Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation.小鼠大脑中的性别二态性基因表达先于性腺分化。
Brain Res Mol Brain Res. 2003 Oct 21;118(1-2):82-90. doi: 10.1016/s0169-328x(03)00339-5.
4
A genomewide screen of 345 families for autism-susceptibility loci.对345个家庭进行全基因组筛查以寻找自闭症易感基因座。
Am J Hum Genet. 2003 Oct;73(4):886-97. doi: 10.1086/378778. Epub 2003 Sep 17.
5
Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families.格雷夫斯病和桥本氏病的常见及独特易感基因座：102个多重家庭数据集的全基因组筛查结果
Am J Hum Genet. 2003 Oct;73(4):736-47. doi: 10.1086/378588. Epub 2003 Sep 12.
6
Gender differences in the processing of standardized emotional visual stimuli in humans: a functional magnetic resonance imaging study.人类对标准化情感视觉刺激处理过程中的性别差异：一项功能磁共振成像研究。
Neurosci Lett. 2003 Sep 4;348(1):41-5. doi: 10.1016/s0304-3940(03)00565-2.
7
Genetics of autism: complex aetiology for a heterogeneous disorder.自闭症的遗传学：一种异质性疾病的复杂病因
Nat Rev Genet. 2001 Dec;2(12):943-55. doi: 10.1038/35103559.
8
The contributions of sex, genotype and age to transcriptional variance in Drosophila melanogaster.性别、基因型和年龄对黑腹果蝇转录变异的影响。
Nat Genet. 2001 Dec;29(4):389-95. doi: 10.1038/ng766.
9
The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions.自闭症遗传资源库：一项用于自闭症及相关神经精神疾病研究的资源。
Am J Hum Genet. 2001 Aug;69(2):463-6. doi: 10.1086/321292.
10
Functional sex differences ('sexual diergism') of central nervous system cholinergic systems, vasopressin, and hypothalamic-pituitary-adrenal axis activity in mammals: a selective review.哺乳动物中枢神经系统胆碱能系统、血管加压素和下丘脑-垂体-肾上腺轴活动的功能性性别差异（“性双态性”）：选择性综述。
Brain Res Brain Res Rev. 1999 Aug;30(2):135-52. doi: 10.1016/s0165-0173(99)00011-9.
Zotero 插件