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研究解析南非科萨人精神分裂症的遗传学基础
作者:小柯机器人 发布时间:2020/2/12 9:52:24

美国华盛顿大学M.-C. King等研究人员报道了南非科萨人精神分裂症的遗传学基础。该研究于2020年1月31日发表于国际一流学术期刊《科学》。

为了更好地了解精神分裂症的遗传学,研究人员调查了南非科萨人的这种疾病,他们招募了909个病例和917个年龄、性别和居住匹配的对照。与对照组相比较,患有精神分裂症的个体更具有隐蔽、严重破坏性基因突变,这些基因对突触功能至关重要,包括由神经递质谷氨酰胺、γ-氨基丁酸和多巴胺介导的神经回路。精神分裂症在遗传上高度异质,涉及对突触可塑性重要基因中的严重超罕见突变。非洲遗传变异的深度揭示了这种关系,且样本量合理,这为人们对全球精神分裂症遗传学的理解提供了信息。
 
据悉,非洲是所有现代人类祖先的起源地,是了解人类基因组及其对复杂疾病贡献信息最丰富的大陆。
 
附:英文原文

Title: Genetics of schizophrenia in the South African Xhosa

Author: S. Gulsuner, D. J. Stein, E. S. Susser, G. Sibeko, A. Pretorius, T. Walsh, L. Majara, M. M. Mndini, S. G. Mqulwana, O. A. Ntola, S. Casadei, L. L. Ngqengelele, V. Korchina, C. van der Merwe, M. Malan, K. M. Fader, M. Feng, E. Willoughby, D. Muzny, A. Baldinger, H. F. Andrews, R. C. Gur, R. A. Gibbs, Z. Zingela, M. Nagdee, R. S. Ramesar, M.-C. King, J. M. McClellan

Issue&Volume: 2020/01/31

Abstract: Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.

DOI: 10.1126/science.aay8833

Source: https://science.sciencemag.org/content/367/6477/569

期刊信息
Science:《科学》,创刊于1880年。隶属于美国科学促进会,最新IF:41.037