ArticlePloS one2013
Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population.European journal of human genetics : EJHG · 2025Article
- Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD).Genes · 2024Article
- Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.Annals of human biology · 2023Article
- The DNA repair protein ATM as a target in autism spectrum disorder.JCI insight · 2021Article
- Genetic ancestry plays a central role in population pharmacogenomics.Communications biology · 2021Article
- Identifying Subgroups of Patients With Autism by Gene Expression Profiles Using Machine Learning Algorithms.Frontiers in psychiatry · 2021Article
- Boys with autism spectrum disorder have distinct cortical folding patterns underpinning impaired self-regulation: a surface-based morphometry study.Brain imaging and behavior · 2020Article
- Maternal and Family Processes in Different Subgroups of Youth with Autism Spectrum Disorder.Journal of abnormal child psychology · 2019Article
- Runs of homozygosity: windows into population history and trait architecture.Nature reviews. Genetics · 2018Review
- The distribution and functional relevance analysis of runs of homozygosity (ROHs) in Chinese Han female population.Molecular genetics and genomics : MGG · 2018Article
- Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data.BMC genomics · 2018Article
- Deficits in executive functions among youths with autism spectrum disorders: an age-stratified analysis.Psychological medicine · 2016Article
- Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
- Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages.American journal of human genetics · 2015Article
- Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Molecular cytogenetics · 2015Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
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Abstract
Runs of homozygosity (ROH) may play a role in complex diseases. In the current study, we aimed to test if ROHs are linked to the risk of autism and related language impairment. We analyzed 546,080 SNPs in 315 Han Chinese affected with autism and 1,115 controls. ROH was defined as an extended homozygous haplotype spanning at least 500 kb. Relative extended haplotype homozygosity (REHH) for the trait-associated ROH region was calculated to search for the signature of selection sweeps. Totally, we identified 676 ROH regions. An ROH region on 11q22.3 was significantly associated with speech delay (corrected p = 1.73×10(-8)). This region contains the NPAT and ATM genes associated with ataxia telangiectasia characterized by language impairment; the CUL5 (culin 5) gene in the same region may modulate the neuronal migration process related to language functions. These three genes are highly expressed in the cerebellum. No evidence for recent positive selection was detected on the core haplotypes in this region. The same ROH region was also nominally significantly associated with speech delay in another independent sample (p = 0.037; combinatorial analysis Stouffer's z trend = 0.0005). Taken together, our findings suggest that extended recessive loci on 11q22.3 may play a role in language impairment in autism. More research is warranted to investigate if these genes influence speech pathology by perturbing cerebellar functions.
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