دورية أكاديمية
Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
| العنوان: | Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci. |
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| المؤلفون: | Bayram, Ece, Reho, Paolo, Litvan, Irene, International LBD Genomics, KRÜGER, Rejko, MAY, Patrick, Ding, Jinhui, Gibbs, J Raphael, Dalgard, Clifton L, Traynor, Bryan J, Scholz, Sonja W, Chia, Ruth |
| المساهمون: | Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group), Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group), LIH - Luxembourg Institute of Health |
| المصدر: | NPJ Parkinson's Disease, 10 (1), 39 (2024-02-20) |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2024 |
| المجموعة: | University of Luxembourg: ORBilu - Open Repository and Bibliography |
| مصطلحات موضوعية: | Lewy body dementia, X chromosome, GWAS, XWAS, Life sciences, Genetics & genetic processes, Human health sciences, Neurology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Neurologie |
| الوصف: | peer reviewed ; Sex influences the prevalence and symptoms of Lewy body dementia (LBD). However, genome-wide association studies typically focus on autosomal variants and exclude sex-specific risk factors. We addressed this gap by performing an X chromosome-wide association study using whole-genome sequence data from 2591 LBD cases and 4391 controls. We identified a significant risk locus within intron 1 of MAP3K15 (rs141773145, odds ratio = 2.42, 95% confidence interval = 1.65-3.56, p-value = 7.0 × 10(-6)) in female LBD cases conditioned for APOE ε4 dosage. The locus includes an enhancer region that regulates MAP3K15 expression in ganglionic eminence cells derived from primary cultured neurospheres. Rare variant burden testing showed differential enrichment of missense mutations in TEX13A in female LBD cases, that did not reach significance (p-value = 1.34 × 10(-4)). These findings support the sex-specific effects of genetic factors and a potential role of Alzheimer's-related risk for females with LBD. ; 3. Good health and well-being |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2373-8057 |
| العلاقة: | FNR11264123 - Ncer-pd, 2015 (01/01/2015-30/11/2020) - Rejko Krüger; urn:issn:2373-8057; https://orbilu.uni.lu/handle/10993/60368Test; info:hdl:10993/60368; https://orbilu.uni.lu/bitstream/10993/60368/1/s41531-024-00649-7.pdfTest; scopus-id:2-s2.0-85185685644; info:pmid:38378815 |
| DOI: | 10.1038/s41531-024-00649-7 |
| الإتاحة: | https://doi.org/10.1038/s41531-024-00649-7Test https://orbilu.uni.lu/handle/10993/60368Test https://orbilu.uni.lu/bitstream/10993/60368/1/s41531-024-00649-7.pdfTest |
| حقوق: | open access ; http://purl.org/coar/access_right/c_abf2Test ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.84C40218 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 23738057 |
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| DOI: | 10.1038/s41531-024-00649-7 |