Leveraging genetic ancestry to study health disparities

被引：34

作者：

Batai, Ken ^{[1
]}

Hooker, Stanley ^{[2
]}

Kittles, Rick A. ^{[2
]}

机构：

[1] Univ Arizona, Dept Urol, Tucson, AZ USA

[2] City Hope Comprehens Canc Ctr, Dept Populat Sci, Div Hlth Equ, 1500 E Duarte Rd, Duarte, CA 91010 USA

来源：

AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY | 2021年 / 175卷 / 02期

关键词：

genetic ancestry; health disparities; precision medicine; GENOME-WIDE ASSOCIATION; NEGATIVE BREAST-CANCER; POSTMENOPAUSAL AFRICAN-AMERICAN; PROSTATE-CANCER; POPULATION-STRUCTURE; BLOOD-PRESSURE; UNITED-STATES; RISK VARIANTS; SKIN COLOR; SUSCEPTIBILITY LOCUS;

D O I：

10.1002/ajpa.24144

中图分类号：

Q98 [人类学];

学科分类号：

030303 ;

摘要：

Research to understand human genomic variation and its implications in health has great potential to contribute in the reduction of health disparities. Biological anthropology can play important roles in genomics and health disparities research using a biocultural approach. This paper argues that racial/ethnic categories should not be used as a surrogate for sociocultural factors or global genomic clusters in biomedical research or clinical settings, because of the high genetic heterogeneity that exists within traditional racial/ethnic groups. Genetic ancestry is used to show variation in ancestral genomic contributions to recently admixed populations in the United States, such as African Americans and Hispanic/Latino Americans. Genetic ancestry estimates are also used to examine the relationship between ancestry-related biological and sociocultural factors affecting health disparities. To localize areas of genomes that contribute to health disparities, admixture mapping and genome-wide association studies (GWAS) are often used. Recent GWAS have identified many genetic variants that are highly differentiated among human populations that are associated with disease risk. Some of these are population-specific variants. Many of these variants may impact disease risk and help explain a portion of the difference in disease burden among racial/ethnic groups. Genetic ancestry is also of particular interest in precision medicine and disparities in drug efficacy and outcomes. By using genetic ancestry, we can learn about potential biological differences that may contribute to the heterogeneity observed across self-reported racial groups.

引用

页码：363 / 375

页数：13

共 136 条

[61]

Hales Craig M, 2020, NCHS Data Brief, P1, DOI 10.21608/seaf.2020.162168

[62] Prostate Cancer Susceptibility in Men of African Ancestry at 8q24 [J].

Han, Ying ;

Rand, Kristin A. ;

Hazelett, Dennis J. ;

Ingles, Sue A. ;

Kittles, Rick A. ;

Strom, Sara S. ;

Rybicki, Benjamin A. ;

Nemesure, Barbara ;

Isaacs, William B. ;

Stanford, Janet L. ;

Zheng, Wei ;

Schumacher, Fredrick R. ;

Berndt, Sonja I. ;

Wang, Zhaoming ;

Xu, Jianfeng ;

Rohland, Nadin ;

Reich, David ;

Tandon, Arti ;

Pasaniuc, Bogdan ;

Allen, Alex ;

Quinque, Dominique ;

Mallick, Swapan ;

Notani, Dimple ;

Rosenfeld, Michael G. ;

Jayani, Ranveer Singh ;

Kolb, Suzanne ;

Gapstur, Susan M. ;

Stevens, Victoria L. ;

Pettaway, Curtis A. ;

Yeboah, Edward D. ;

Tettey, Yao ;

Biritwum, Richard B. ;

Adjei, Andrew A. ;

Tay, Evelyn ;

Truelove, Ann ;

Niwa, Shelley ;

Chokkalingam, Anand P. ;

John, Esther M. ;

Murphy, Adam B. ;

Signorello, Lisa B. ;

Carpten, John ;

Leske, M. Cristina ;

Wu, Suh-Yuh ;

Hennis, Anslem J. M. ;

Neslund-Dudas, Christine ;

Hsing, Ann W. ;

Chu, Lisa ;

Goodman, Phyllis J. ;

Klein, Eric A. ;

Zheng, S. Lilly .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2016, 108 (07)

[63] Generalizability of established prostate cancer risk variants in men of African ancestry [J].

Han, Ying ;

Signorello, Lisa B. ;

Strom, Sara S. ;

Kittles, Rick A. ;

Rybicki, Benjamin A. ;

Stanford, Janet L. ;

Goodman, Phyllis J. ;

Berndt, Sonja I. ;

Carpten, John ;

Casey, Graham ;

Chu, Lisa ;

Conti, David V. ;

Rand, Kristin A. ;

Diver, W. Ryan ;

Hennis, Anselm J. M. ;

John, Esther M. ;

Kibel, Adam S. ;

Klein, Eric A. ;

Kolb, Suzanne ;

Le Marchand, Loic ;

Leske, M. Cristina ;

Murphy, Adam B. ;

Neslund-Dudas, Christine ;

Park, Jong Y. ;

Pettaway, Curtis ;

Rebbeck, Timothy R. ;

Gapstur, Susan M. ;

Zheng, S. Lilly ;

Wu, Suh-Yuh ;

Witte, John S. ;

Xu, Jianfeng ;

Isaacs, William ;

Ingles, Sue A. ;

Hsing, Ann ;

Easton, Douglas F. ;

Eeles, Rosalind A. ;

Schumacher, Fredrick R. ;

Chanock, Stephen ;

Nemesure, Barbara ;

Blot, William J. ;

Stram, Daniel O. ;

Henderson, Brian E. ;

Haiman, Christopher A. .

INTERNATIONAL JOURNAL OF CANCER, 2015, 136 (05) :1210-1217

[64] Adaptations to climate in candidate genes for common metabolic disorders [J].

Hancock, Angela M. ;

Witonsky, David B. ;

Gordon, Adam S. ;

Eshel, Gidon ;

Pritchard, Jonathan K. ;

Coop, Graham ;

Di Rienzo, Anna .

PLOS GENETICS, 2008, 4 (02)

[65] SKIN COLOR, ETHNICITY, AND BLOOD-PRESSURE .1. DETROIT BLACKS [J].

HARBURG, E ;

GLEIBERMANN, L ;

ROEPER, P ;

SCHORK, MA ;

SCHULL, WJ .

AMERICAN JOURNAL OF PUBLIC HEALTH, 1978, 68 (12) :1177-1183

[66] Prioritizing diversity in human genomics research [J].

Hindorff, Lucia A. ;

Bonham, Vence L. ;

Brody, Lawrence C. ;

Ginoza, Margaret E. C. ;

Hutter, Carolyn M. ;

Manolio, Teri A. ;

Green, Eric D. .

NATURE REVIEWS GENETICS, 2018, 19 (03) :175-+

[67] A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences [J].

Hoffmann, Thomas J. ;

Van den Eeden, Stephen K. ;

Sakoda, Lori C. ;

Jorgenson, Eric ;

Habel, Laurel A. ;

Graff, Rebecca E. ;

Passarelli, Michael N. ;

Cario, Clinton L. ;

Emami, Nima C. ;

Chao, Chun R. ;

Ghai, Nirupa R. ;

Shan, Jun ;

Ranatunga, Dilrini K. ;

Quesenberry, Charles P. ;

Aaronson, David ;

Presti, Joseph ;

Wang, Zhaoming ;

Berndt, Sonja I. ;

Chanock, Stephen J. ;

McDonnell, Shannon K. ;

French, Amy J. ;

Schaid, Daniel J. ;

Thibodeau, Stephen N. ;

Li, Qiyuan ;

Freedman, Matthew L. ;

Penney, Kathryn L. ;

Mucci, Lorelei A. ;

Haiman, Christopher A. ;

Henderson, Brian E. ;

Seminara, Daniela ;

Kvale, Mark N. ;

Kwok, Pui-Yan ;

Schaefer, Catherine ;

Risch, Neil ;

Witte, John S. .

CANCER DISCOVERY, 2015, 5 (08) :878-891

[68] Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer [J].

Huo, Dezheng ;

Feng, Ye ;

Haddad, Stephen ;

Zheng, Yonglan ;

Yao, Song ;

Han, Yoo-Jeong ;

Ogundiran, Temidayo O. ;

Adebamowo, Clement ;

Ojengbede, Oladosu ;

Falusi, Adeyinka G. ;

Zheng, Wei ;

Blot, William ;

Cai, Qiuyin ;

Signorello, Lisa ;

John, Esther M. ;

Bernstein, Leslie ;

Hu, Jennifer J. ;

Ziegler, Regina G. ;

Nyante, Sarah ;

Bandera, Elisa V. ;

Ingles, Sue A. ;

Press, Michael F. ;

Deming, Sandra L. ;

Rodriguez-Gil, Jorge L. ;

Nathanson, Katherine L. ;

Domchek, Susan M. ;

Rebbeck, Timothy R. ;

Ruiz-Narvaez, Edward A. ;

Sucheston-Campbell, Lara E. ;

Bensen, Jeannette T. ;

Simon, Michael S. ;

Hennis, Anselm ;

Nemesure, Barbara ;

Leske, M. Cristina ;

Ambs, Stefan ;

Chen, Lin S. ;

Qian, Frank ;

Gamazon, Eric R. ;

Lunetta, Kathryn L. ;

Cox, Nancy J. ;

Chanock, Stephen J. ;

Kolonel, Laurence N. ;

Olshan, Andrew F. ;

Ambrosone, Christine B. ;

Olopade, Olufunmilayo I. ;

Palmer, Julie R. ;

Haiman, Christopher A. .

HUMAN MOLECULAR GENETICS, 2016, 25 (21) :4835-4846

[69] GENOME-WIDE ASSOCIATION STUDIES Validating, augmenting and refining genome-wide association signals [J].

Ioannidis, John P. A. ;

Thomas, Gilles ;

Daly, Mark J. .

NATURE REVIEWS GENETICS, 2009, 10 (05) :318-329

[70] Differences in Breast Cancer Stage at Diagnosis and Cancer-Specific Survival by Race and Ethnicity in the United States [J].

Iqbal, Javaid ;

Ginsburg, Ophira ;

Rochon, Paula A. ;

Sun, Ping ;

Narod, Steven A. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2015, 313 (02) :165-173

← 2 3 4 5 6 7 8 9 10 11 →