Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder.
Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder.
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DOI：
10.3389/fpsyt.2021.716673
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发表时间：
2021
影响因子：
4.7
通讯作者：
Hoffman EJ
中科院分区：
文献类型：
--
作者：
Enriquez KD;Gupta AR;Hoffman EJ
自闭症谱系障碍（ASD）是一组神经发育障碍，与社会沟通和限制性，重复性行为模式的缺陷有关，影响高达1/54的儿童。ASD明显表现出男性偏好，男性发生的频率是女性的4倍，尽管这种男性优势的基础尚不清楚。近年来，ASD风险基因的发现已经加速，许多全外显子组测序研究确定了在共同途径上收敛的基因，例如神经元通讯和基因表达调控。ASD遗传学研究表明，可能存在“女性保护效应”，例如女性可能具有更高的ASD风险阈值，但其病因尚不清楚。在这里，我们回顾了ASD遗传学研究所涉及的常见生物学途径，以及最近使用成像基因组学，转录组学和动物模型对ASD性别差异过程的分析。此外，我们还讨论了ASD风险基因的最新研究，这些研究表明雌激素在ASD中作为生物学途径调节剂的潜在作用，并强调了雌激素信号传导下游的相关分子和细胞途径作为进一步研究的潜在途径。
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders associated with deficits in social communication and restrictive, repetitive patterns of behavior, that affect up to 1 in 54 children. ASDs clearly demonstrate a male bias, occurring ~4 times more frequently in males than females, though the basis for this male predominance is not well-understood. In recent years, ASD risk gene discovery has accelerated, with many whole-exome sequencing studies identifying genes that converge on common pathways, such as neuronal communication and regulation of gene expression. ASD genetics studies have suggested that there may be a “female protective effect,” such that females may have a higher threshold for ASD risk, yet its etiology is not well-understood. Here, we review common biological pathways implicated by ASD genetics studies as well as recent analyses of sex differential processes in ASD using imaging genomics, transcriptomics, and animal models. Additionally, we discuss recent investigations of ASD risk genes that have suggested a potential role for estrogens as modulators of biological pathways in ASD, and highlight relevant molecular and cellular pathways downstream of estrogen signaling as potential avenues for further investigation.
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自闭症谱系障碍受试者中部回旋中雌激素受体β（ERβ），芳香酶（CYP19A1）和ER共激活剂的失调。
影响因子：
6.2
作者：
Crider A;Thakkar R;Ahmed AO;Pillai A
通讯作者：
Pillai A
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
影响因子：
3.6
作者：
BERRYKRAVIS, E;HICAR, M;CIURLIONIS, R
通讯作者：
CIURLIONIS, R
影响因子：
3.5
作者：
Anney R;Klei L;Pinto D;Almeida J;Bacchelli E;Baird G;Bolshakova N;Bölte S;Bolton PF;Bourgeron T;Brennan S;Brian J;Casey J;Conroy J;Correia C;Corsello C;Crawford EL;de Jonge M;Delorme R;Duketis E;Duque F;Estes A;Farrar P;Fernandez BA;Folstein SE;Fombonne E;Gilbert J;Gillberg C;Glessner JT;Green A;Green J;Guter SJ;Heron EA;Holt R;Howe JL;Hughes G;Hus V;Igliozzi R;Jacob S;Kenny GP;Kim C;Kolevzon A;Kustanovich V;Lajonchere CM;Lamb JA;Law-Smith M;Leboyer M;Le Couteur A;Leventhal BL;Liu XQ;Lombard F;Lord C;Lotspeich L;Lund SC;Magalhaes TR;Mantoulan C;McDougle CJ;Melhem NM;Merikangas A;Minshew NJ;Mirza GK;Munson J;Noakes C;Nygren G;Papanikolaou K;Pagnamenta AT;Parrini B;Paton T;Pickles A;Posey DJ;Poustka F;Ragoussis J;Regan R;Roberts W;Roeder K;Roge B;Rutter ML;Schlitt S;Shah N;Sheffield VC;Soorya L;Sousa I;Stoppioni V;Sykes N;Tancredi R;Thompson AP;Thomson S;Tryfon A;Tsiantis J;Van Engeland H;Vincent JB;Volkmar F;Vorstman JA;Wallace S;Wing K;Wittemeyer K;Wood S;Zurawiecki D;Zwaigenbaum L;Bailey AJ;Battaglia A;Cantor RM;Coon H;Cuccaro ML;Dawson G;Ennis S;Freitag CM;Geschwind DH;Haines JL;Klauck SM;McMahon WM;Maestrini E;Miller J;Monaco AP;Nelson SF;Nurnberger JI Jr;Oliveira G;Parr JR;Pericak-Vance MA;Piven J;Schellenberg GD;Scherer SW;Vicente AM;Wassink TH;Wijsman EM;Betancur C;Buxbaum JD;Cook EH;Gallagher L;Gill M;Hallmayer J;Paterson AD;Sutcliffe JS;Szatmari P;Vieland VJ;Hakonarson H;Devlin B
通讯作者：
Devlin B
影响因子：
4.8
作者：
Cederlof, Martin;Gotby, Agnes Ohlsson;Lichtenstein, Paul
通讯作者：
Lichtenstein, Paul