文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

基因组研究时代的自我报告种族/族裔:其对理解健康差异的潜在影响。

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.

作者信息

Mersha Tesfaye B, Abebe Tilahun

机构信息

Division of Asthma Research, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.

Department of Biology, University of Northern Iowa, Cedar Falls, IA, USA.

出版信息

Hum Genomics. 2015 Jan 7;9(1):1. doi: 10.1186/s40246-014-0023-x.


DOI:10.1186/s40246-014-0023-x
PMID:25563503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4307746/
Abstract

This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. Various terminologies are used to classify human differences in genomic research including race, ethnicity, and ancestry. Although race and ethnicity are related, race refers to a person's physical appearance, such as skin color and eye color. Ethnicity, on the other hand, refers to communality in cultural heritage, language, social practice, traditions, and geopolitical factors. Genetic ancestry inferred using ancestry informative markers (AIMs) is based on genetic/genomic data. Phenotype-based race/ethnicity information and data computed using AIMs often disagree. For example, self-reporting African Americans can have drastically different levels of African or European ancestry. Genetic analysis of individual ancestry shows that some self-identified African Americans have up to 99% of European ancestry, whereas some self-identified European Americans have substantial admixture from African ancestry. Similarly, African ancestry in the Latino population varies between 3% in Mexican Americans to 16% in Puerto Ricans. The implication of this is that, in African American or Latino populations, self-reported ancestry may not be as accurate as direct assessment of individual genomic information in predicting treatment outcomes. To better understand human genetic variation in the context of health disparities, we suggest using "ancestry" (or biogeographical ancestry) to describe actual genetic variation, "race" to describe health disparity in societies characterized by racial categories, and "ethnicity" to describe traditions, lifestyle, diet, and values. We also suggest using ancestry informative markers for precise characterization of individuals' biological ancestry. Understanding the sources of human genetic variation and the causes of health disparities could lead to interventions that would improve the health of all individuals.

摘要

本综述探讨了生物医学研究中自我报告的种族、族裔和遗传血统的局限性。在基因组研究中,人们使用各种术语来对人类差异进行分类,包括种族、族裔和血统。虽然种族和族裔相关,但种族指的是一个人的外貌特征,如肤色和眼睛颜色。另一方面,族裔指的是文化遗产、语言、社会实践、传统和地缘政治因素方面的共性。使用祖先信息标记(AIMs)推断的遗传血统是基于遗传/基因组数据。基于表型的种族/族裔信息与使用AIMs计算得出的数据往往不一致。例如,自我报告为非裔美国人的个体,其非洲或欧洲血统水平可能有很大差异。对个体血统的基因分析表明,一些自我认定为非裔美国人的个体欧洲血统高达99%,而一些自我认定为欧洲裔美国人的个体有大量非洲血统的混合。同样,拉丁裔人群中的非洲血统比例在墨西哥裔美国人中为3%,在波多黎各裔美国人中为16%。这意味着,在非裔美国人或拉丁裔人群中,自我报告的血统在预测治疗结果时可能不如直接评估个体基因组信息准确。为了在健康差异的背景下更好地理解人类遗传变异,我们建议使用“血统”(或生物地理血统)来描述实际的遗传变异,使用“种族”来描述以种族类别为特征的社会中的健康差异,使用“族裔”来描述传统、生活方式、饮食和价值观。我们还建议使用祖先信息标记来精确表征个体的生物血统。了解人类遗传变异的来源和健康差异的成因可能会带来改善所有人健康状况的干预措施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/842edb7a7ad8/40246_2014_23_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/c48a6a8b50c3/40246_2014_23_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/4b49bdb692e4/40246_2014_23_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/efde13488eff/40246_2014_23_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/425d7a18a98e/40246_2014_23_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/62f0f688bc95/40246_2014_23_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/842edb7a7ad8/40246_2014_23_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/c48a6a8b50c3/40246_2014_23_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/4b49bdb692e4/40246_2014_23_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/efde13488eff/40246_2014_23_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/425d7a18a98e/40246_2014_23_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/62f0f688bc95/40246_2014_23_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a99/4307746/842edb7a7ad8/40246_2014_23_Fig6_HTML.jpg

相似文献

[1]
Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.

Hum Genomics. 2015-1-7

[2]
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.

Genet Med. 2010-10

[3]
Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City.

J Genet. 2010-12

[4]
Genetic ancestry, self-reported race and ethnicity in African Americans and European Americans in the PCaP cohort.

PLoS One. 2012-3-27

[5]
Race and ancestry in the age of inclusion: technique and meaning in post-genomic science.

J Health Soc Behav. 2014-12

[6]
Genetic Ancestry and Self-Reported "Skin Color/Race" in the Urban Admixed Population of São Paulo City, Brazil.

Genes (Basel). 2024-7-13

[7]
The impact of self-reported ethnicity versus genetic ancestry on phenotypic characteristics of polycystic ovary syndrome (PCOS).

J Clin Endocrinol Metab. 2014-6-24

[8]
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Genetics. 2015-8

[9]
Population structure and pharmacogenomic risk stratification in the United States.

BMC Biol. 2020-10-13

[10]
The social, economic, political, and genetic value of race and ethnicity in 2020.

Hum Genomics. 2020-10-15

引用本文的文献

[1]
Population-Specific Radiomics From Biparametric Magnetic Resonance Imaging Improves Prostate Cancer Risk Stratification in African American Men.

JU Open Plus. 2025-7

[2]
Differences in the distribution of HER2-positive breast tumors according to ethnicity and genetic variants in : a special focus on Asian and Latina women.

Front Oncol. 2025-7-24

[3]
Assessing racial disparities in disease outcomes of patients with high-risk, triple-negative breast cancer and residual disease after neoadjuvant therapy: a post-hoc analysis of the ECOG-ACRIN 1131 clinical trial.

Breast Cancer Res Treat. 2025-11

[4]
Tapinarof Cream for Adults and Children with Atopic Dermatitis-Efficacy by Race and Fitzpatrick Skin Type in Two Phase 3 Randomized Clinical Trials.

Dermatol Ther (Heidelb). 2025-7-22

[5]
Heterogeneity in the development of diabetes-related complications: narrative review of the roles of ancestry and geographical determinants.

Diabetologia. 2025-7-22

[6]
Role of Genetics in Early-Onset Cardiovascular Disease.

Cureus. 2025-6-14

[7]
Patterns of US citizenship status vs. diet quality among adults of African descent.

BMC Nutr. 2025-7-7

[8]
Quantifying Sample Representation in Global Pharmacogenomic Studies of Major Depressive Disorder: A Systematic Review.

Clin Transl Sci. 2025-7

[9]
Deep Genomics: Deep Learning-Based Analysis of Genome-Sequenced Data for Identification of Gene Alterations.

Methods Mol Biol. 2025

[10]
Bridging Barriers: Engaging Ethnic Minorities in Cardiovascular Research.

Healthcare (Basel). 2025-5-22

本文引用的文献

[1]
The correlation between ancestry and color in two cities of Northeast Brazil with contrasting ethnic compositions.

Eur J Hum Genet. 2015-7

[2]
Genes prove mixed ancestry of all Cubans: interview with Beatriz Marcheco MD PhD, Director, National Medical Genetics Center, Havana.

MEDICC Rev. 2014

[3]
Admixture and clinical phenotypic variation.

Hum Hered. 2014

[4]
Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

PLoS Genet. 2014-7-24

[5]
Lung function testing in children: importance of race and ethnic-specific reference equations.

Expert Rev Respir Med. 2014-10

[6]
How to avoid misinterpreting lung function tests in children: a few practical tips.

Paediatr Respir Rev. 2014-2-13

[7]
The genetical structure of populations.

Ann Eugen. 1951-3

[8]
A genetic atlas of human admixture history.

Science. 2014-2-14

[9]
Native American ancestry, lung function, and COPD in Costa Ricans.

Chest. 2014-4

[10]
National surveillance of asthma: United States, 2001-2010.

Vital Health Stat 3. 2012-11

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索