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Article

Chromosome X-wide common variant association study in autism spectrum disorder.

American journal of human genetics - 2 Jan 2025

Mendes Marla, Chen Desmond Zeya, Engchuan Worrawat, Leal Thiago Peixoto, Thiruvahindrapuram Bhooma, Trost Brett, Howe Jennifer L, Pellecchia Giovanna, Nalpathamkalam Thomas, Alexandrova Roumiana, Salazar Nelson Bautista, McKee Ethan A, Rivera-Alfaro Natalia, Lai Meng-Chuan, Bandres-Ciga Sara, Roshandel Delnaz, Bradley Clarrisa A, Anagnostou Evdokia, Sun Lei, Scherer Stephen W

Abstract excerpt

Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD. The "female protective effect" in ASD suggests that females may require a higher genetic burden to manifest symptoms similar to those in males, yet the mechanisms remain unclear. Despite...

Topics

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Autism Spectrum Disorder
Chromosomes, Human, X
CDKL5 gene
MECP2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Genome-Wide Association Study

Polymorphism, Single Nucleotide

Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 39706197
DOI: 10.1016/j.ajhg.2024.11.008
PMCID: PMC11739886

Genes

PTCHD1
DDX53
DMD
AP1S2
CDKL5
DDX3X
FGF13
GLRA2
GPRASP2
GRPR
HDAC8
MECP2
PCDH11X
PCDH19
SH3KBP1
SYAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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