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欧洲罗姆人人口遗传学综述。

Population Genetics of the European Roma-A Review.

机构信息

Department of Medicine and Life Sciences (MELIS), Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, 08002 Barcelona, Spain.

Department of Biomedical Informatics, Anschutz Medical Campus, University of Colorado, Aurora, CO 80309, USA.

出版信息

Genes (Basel). 2022 Nov 8;13(11):2068. doi: 10.3390/genes13112068.

DOI:10.3390/genes13112068
PMID:36360305
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9690732/
Abstract

The Roma are a group of populations with a common origin that share the Romani identity and cultural heritage. Their genetic history has been inferred through multiple studies based on uniparental and autosomal markers, and current genomic data have provided novel insights into their genetic background. This review was prompted by two factors: (i) new developments to estimate the genetic structure of the Roma at a fine-scale resolution have precisely identified the ancestral components and traced migrations that were previously documented only in historical sources, clarifying and solving debates on the origins and the diaspora of the Roma; (ii) while there has been an effort to review the health determinants of the Roma, the increasing literature on their population genetics has not been subjected to a dedicated review in the last two decades. We believe that a summary on the state of the art will benefit both the public and scholars that are approaching the subject.

摘要

罗姆人是一个具有共同起源的群体,他们拥有罗马尼身份和文化遗产。他们的遗传历史已经通过基于单亲遗传和常染色体标记的多项研究进行了推断,而当前的基因组数据为他们的遗传背景提供了新的见解。促使我们进行本次综述的原因有两个:(i) 新的研究进展可以以精细分辨率估计罗姆人的遗传结构,精确确定了先前仅在历史资料中记录的祖先成分和迁徙情况,从而澄清和解决了有关罗姆人起源和离散的争论;(ii) 虽然已经努力探讨罗姆人的健康决定因素,但过去二十年中,有关其群体遗传学的文献越来越多,但尚未对此进行专门的综述。我们认为,对最新技术状态的总结将使公众和研究人员都受益,因为他们正在研究这一主题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba97/9690732/92af7a6fc725/genes-13-02068-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba97/9690732/235c9dd1ef98/genes-13-02068-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba97/9690732/92af7a6fc725/genes-13-02068-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba97/9690732/235c9dd1ef98/genes-13-02068-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba97/9690732/92af7a6fc725/genes-13-02068-g002.jpg

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本文引用的文献

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Addressing underrepresentation in genomics research through community engagement.通过社区参与解决基因组学研究中的代表性不足问题。
Am J Hum Genet. 2022 Sep 1;109(9):1563-1571. doi: 10.1016/j.ajhg.2022.08.005.
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Representing vulnerable populations in genetic studies: The case of the Roma.在基因研究中纳入弱势群体:以罗姆人为例。
Sci Context. 2021 Mar;34(1):69-100. doi: 10.1017/S0269889722000023.
3
Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.基因混合塑造了罗姆人在临床相关变异中的遗传多样性。
人口历史调节了罗姆人群体中拷贝数变异的适应度效应。
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Front Genet. 2021 Jun 16;12:683880. doi: 10.3389/fgene.2021.683880. eCollection 2021.
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The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm.人口统计学对功能基因组变异的抵消作用:罗姆人范式。
Mol Biol Evol. 2021 Jun 25;38(7):2804-2817. doi: 10.1093/molbev/msab070.
5
The shaping of immunological responses through natural selection after the Roma Diaspora.免疫反应通过自然选择在罗姆人大迁徙后形成。
Sci Rep. 2020 Sep 30;10(1):16134. doi: 10.1038/s41598-020-73182-1.
6
Sex-biased patterns shaped the genetic history of Roma.性别偏向模式塑造了罗姆人的遗传史。
Sci Rep. 2020 Sep 2;10(1):14464. doi: 10.1038/s41598-020-71066-y.
7
Recent Common Origin, Reduced Population Size, and Marked Admixture Have Shaped European Roma Genomes.最近的共同起源、人口规模缩小和显著的混合塑造了欧洲罗姆人的基因组。
Mol Biol Evol. 2020 Nov 1;37(11):3175-3187. doi: 10.1093/molbev/msaa156.
8
The genetic risk for hypertension is lower among the Hungarian Roma population compared to the general population.与普通人群相比,匈牙利罗姆人(吉卜赛人)群体的高血压遗传风险较低。
PLoS One. 2020 Jun 17;15(6):e0234547. doi: 10.1371/journal.pone.0234547. eCollection 2020.
9
Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data.权利、利益和期望:关于无限制获取基因组数据的原住民观点。
Nat Rev Genet. 2020 Jun;21(6):377-384. doi: 10.1038/s41576-020-0228-x. Epub 2020 Apr 6.
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SNP-Based Genetic Risk Score Modeling Suggests No Increased Genetic Susceptibility of the Roma Population to Type 2 Diabetes Mellitus.基于 SNP 的遗传风险评分模型表明,罗姆人群患 2 型糖尿病的遗传易感性没有增加。
Genes (Basel). 2019 Nov 19;10(11):942. doi: 10.3390/genes10110942.