可操作的基因型及其与冰岛寿命的关联
Brynjar O Jensson1, Gudny A Arnadottir1, Hildigunnur Katrinardottir1
1From deCODE Genetics-Amgen (B.O.J., G.A.A., H.K., R.F., H. Helgason, A.O., G.S., H.P.E., G.H.H., B.A.A., H.J., G.R.O., A. Sturluson, S.A.G., G.A.T., F.Z., K.H.S.M., G.P., A. Sigurdsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, M.K.M., A. Helgadottir, V.S., J.G., S.N.S., D.O.A., J.S., O.T.M., G.M., B.V.H., A. Helgason, H.S., I.J., H. Holm, T.R., U.T., D.F.G., K.S., P.S.), the Faculty of Medicine, School of Health Sciences (G.A.A., M.K.M., R.H., D.O.A., I.J., U.T., K.S.), the Department of Anthropology (K.H.S.M., A. Helgason), and the School of Engineering and Natural Sciences (H. Helgason, G.H.H., D.F.G.), University of Iceland, the Departments of Urology (R.H.), Clinical Biochemistry (I.O.), Oncology (O.T.J.), Medicine (D.O.A.), and Immunology (I.J.), Landspitali-the National University Hospital of Iceland, and the School of Science and Engineering, Reykjavik University (B.V.H.) - all in Reykjavik, Iceland.
大约25分之一的冰岛人携带可操作的基因型,即与疾病相关的遗传变异. 携带这些可操作的基因型与寿命缩短有关,特别是与癌症相关的基因.
科学领域:
- 基因组学就是基因组学.
- 医学遗传学 医学遗传学
- 人口健康 人口健康
背景情况:
- 美国医学遗传学和基因组学学院 (ACMG) 建议在73个基因中报告可操作的基因型.
- 对于与这些可操作的基因型相关的疾病,可采取预防或治疗措施.
- 评估可操作基因型与寿命之间的联系的研究是有限的.
研究的目的:
- 评估冰岛人口中可操作的基因型的流行程度.
- 调查可操作的基因型与寿命之间的关联.
- 检查可采取行动的基因型携带者死亡的原因.
主要方法:
- 分析了57,933名冰岛人的基因组,以寻找ACMG二次发现 (SF) v3.0基因的变异.
- 手动策划的变种,使用ClinVar分配病原性,变种频率和疾病关联.
- 评估可操作的基因型与寿命之间的关系,并分析死亡原因.
主要成果:
- 在53个基因中确定了235个可操作的基因型.
- 4.0%的参与者 (2306个人) 携带至少一个可操作的基因型.
- 携带可操作的基因型与更短的中位生存时间有关,癌症基因变异使寿命减少3年.
结论:
- 根据ACMG SF v3.0指南,约有25名冰岛人中有1人携带可操作的基因型.
- 携带可操作的基因型与寿命缩短有关.
- 这些发现突显了在人口背景下可操作的基因型的临床意义.
相关概念视频
02:27Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
01:29Life Histories
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:43Incomplete Dominance