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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
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累积遗传分数和累积遗传分数以及累积遗传分数.

John Dou1, Kelly Bakulski1, Kai Guo1

  • 1From the Department of Epidemiology (J.D., K.B.), School of Public Health, Department of Neurology (K.G., E.L.F., S.A.G.), NeuroNetwork for Emerging Therapies (K.G., E.L.F., S.A.G.), University of Michigan, Ann Arbor; Department of Biomedical Sciences (J.H.), University of North Dakota, Grand Forks; Department of Biostatistics (L.Z.), School of Public Health, University of Michigan, Ann Arbor; Neuromuscular Diseases Research Section (S.S.-A., A.S., R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD; ALS Unit (A.G.-R., D.B.-H.), Instituto de Investigación Sanitaria "i + 12" del Hospital Universitario 12 de Octubre de Madrid, SERMAS, CIBERER (A.G.-R., R.R.-G., J.F.V.C., D.B.-H.), Center for Networked Biomedical Research into Rare Diseases, Madrid; Neuromuscular Disorders Unit (R.R.-G.), Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu I Sant Pau, Universitat Autonoma de Barcelona; Neuromuscular Unit (J.F.V.C.), Hospital Universitario y Politécnico la Fe, IIS La Fe; Department of Medicine (J.F.V.C.), Universitat de València; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) (R.F.S., P.G.-G., M.T.P., P.M., J.P.-T., F.C., O.D.-I.), Madrid; Lab of Parkinson's disease and Other Neurodegenerative Movement Disorders (R.F.S.), IDIBAPS-Institut d'Investigacions Biomèdiques, Barcelona; Unitat de Parkinson i Trastorns del Moviment, Servicio de Neurologia (R.F.S.), Hospital Clínic de Barcelona and Institut de Neurociencies de la Universitat de Barcelona (Maria de Maetzu Center), Catalonia, Spain; Center for Alzheimer's and Related Dementias (S.B.-C.), National Institute on Aging, Bethesda, MD; Unidad de Trastornos del Movimiento (P.G.-G., M.T.P., P.M.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC; Departamento de Medicina (P.M.), Universidad de Sevilla; Neurology and Molecular Genetics Mixed Investigation Unit (J.P.-T., F.C.), Instituto de Investigación Sanitaria La Fe, Molecular Genetics Unit (J.P.-T., F.C.), Institut de Biomedicina de València-CSIC; Department of Medicine (M.M.-G.), Universidad de Oviedo; Department of Neurology (M.M.-G.), Hospital Universitario Central de Asturias; Instituto de Investigación Sanitaria del Principado de Asturias (M.M.-G.), Oviedo, Spain; Service of Neurology (J.R.), Hospital Sierrallana, IDIVAL University of Cantabria, Torrelavega; Instituto de Investigación Marqués de Valdecilla (J.R., J.I.C.), Santander; Department of Neurology (L.G.-D.), ALS Unit, Hospital Clínico Universitario "San Carlos," Madrid; Unit of Neurodegenerative Diseases (P.P.), Department of Neurology, University Hospital Germans Trias I Pujol; Neurosciences (P.P.), The Germans Trias i Pujol Research Institute (IGTP) Badalona; Department of Neurology (C.P.), Hospital Universitario Virgen del Rocio, Sevilla; and Memory Unit (O.D.-I.), Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu I Sant Pau, Universitat Autonoma de Barcelona, Spain.

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概括
此摘要是机器生成的。

多基因分数识别了缺乏单基因突变的群体中肌缩侧面硬化症 (ALS) 的累积遗传风险. 这种工具可能会改善未来的ALS风险预测模型.

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科学领域:

  • 遗传学 遗传学 是一个
  • 神经学 神经学
  • 流行病学 流行病学

背景情况:

  • 大多数肌缩性侧面硬化症 (ALS) 病例缺乏明确的单一性病因.
  • 除了单基因突变之外的遗传因素有助于ALS风险.

研究的目的:

  • 评估多基因分数在评估ALS累积遗传风险方面的有用性.
  • 为了在独立的患者队伍中验证这些得分.

主要方法:

  • 基因型化和分析密歇根队列中的染色体9开放阅读框架72 (C9orf72) 扩张.
  • 使用全基因组关联研究数据生成多基因分数,不包括C9orf72区域.
  • 在密歇根州和西班牙队伍进行后勤回归和接收器运行特征分析以进行验证.

主要成果:

  • 在密歇根队列中,使用275个单核酸变异 (SNV) 的多基因得分与ALS几率 (OR=1.28) 有显著的关联.
  • 顶部20%的多基因分数占ALS病例的4.1%,突出显示累积遗传风险.
  • 在西班牙队列中的复制证实了这种关联 (OR=1.13) 使用协调的132-SNV多基因分数.

结论:

  • 多基因分数有效地捕捉了不同人群中ALS的累积遗传风险.
  • 这些分数反映了涉及ALS病变的生物学相关途径.
  • 验证的多基因分数显示了未来ALS风险分层和建模的前景.