Genetics and Epigenetics in Neurological Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 15 September 2025 | Viewed by 444

Special Issue Editor


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Guest Editor
Department of Pathology & Laboratory Medicine, University of California, Irvine, CA, USA
Interests: genetic; epigenetic; neurodegeneration; pathomechanisms; neurotherapeutics

Special Issue Information

Dear Colleagues,

Towards a better understanding of neurological diseases, we would like to invite authors to publish their research (original articles or reviews) in a Special Issue in Genes. We wish to put emphasis on the following themes:

  1. Sequencing of underrepresented human ethnicities and the discovery of new gene(s) associated with neurological diseases;
  2. Epigenetic modifications (DNA methylation, histone methylation, etc.) associated with neurological disease, including (but not limited to) those caused by environmental factors;
  3. Cell and animal modelling of neurological diseases to uncover new pathological mechanisms and treatment strategies;
  4. Deciphering cell-autonomous and non-cell-autonomous mechanisms of neurological disease.

Dr. Julien Philippe
Guest Editor

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Keywords

  • genetic
  • epigenetic
  • neurodegeneration
  • pathomechanisms
  • neurotherapeutics

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Published Papers (1 paper)

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Research

20 pages, 456 KiB  
Article
Region-Based Analysis with Functional Annotation Identifies Genes Associated with Cognitive Function in South Asians from India
by Hasan Abu-Amara, Wei Zhao, Zheng Li, Yuk Yee Leung, Gerard D. Schellenberg, Li-San Wang, Priya Moorjani, Aparajit B. Dey, Sharmistha Dey, Xiang Zhou, Alden L. Gross, Jinkook Lee, Sharon L. R. Kardia and Jennifer A. Smith
Genes 2025, 16(6), 640; https://doi.org/10.3390/genes16060640 - 27 May 2025
Viewed by 163
Abstract
Background/Objectives: The prevalence of dementia among South Asians across India is high among those who are 65 years and older, yet little is known about genetic risk factors for dementia in this population. Methods: Using whole-genome sequence data from 2680 participants from the [...] Read more.
Background/Objectives: The prevalence of dementia among South Asians across India is high among those who are 65 years and older, yet little is known about genetic risk factors for dementia in this population. Methods: Using whole-genome sequence data from 2680 participants from the Diagnostic Assessment of Dementia for the Longitudinal Aging Study of India (LASI-DAD), we performed a gene-based analysis on the missense/loss-of-function (LoF) and brain-specific promoter/enhancer variants of 84 genes, previously associated with AD in European Ancestry (EA). These analyses were performed separately, both with and without incorporating additional annotation weights (e.g., deleteriousness, conservation scores), using the variant-Set Test for Association using Annotation infoRmation (STAAR). We investigated associations with the Hindi Mental State Examination (HMSE) score and factor scores for general cognitive function and five cognitive domains. Results: In the missense/LoF analysis, without annotation weights and controlling for age, sex, state/territory, and genetic ancestry, three genes were associated with at least one measure of cognitive function (FDR q < 0.1). APOE was associated with four measures of cognitive function, PICALM was associated with HMSE score, and TSPOAP1 was associated with executive function. The most strongly associated variants in each gene were rs429358 (APOE ε4), rs779406084 (PICALM), and rs9913145 (TSPOAP1). Rs779406084 is a rare missense mutation that is enriched in LASI-DAD compared to EA (minor allele frequency = 0.075% vs. 0.0015%). Conclusions: Missense/LoF variants in some genes previously associated with AD in EA are associated with measures of cognitive function in South Asians from India. Analyzing genome sequence data allows the identification of potential novel causal variants enriched in South Asians. Full article
(This article belongs to the Special Issue Genetics and Epigenetics in Neurological Disorders)
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