Polygenic Indices (aka Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation

被引:3
作者
Burt, Callie H. [1 ]
机构
[1] Georgia State Univ, Ctr Res Interpersonal Violence, Atlanta, GA USA
关键词
polygenic scores; polygenic index; methods; sociogenomics; genetics; social science; POPULATION-STRUCTURE; LINKAGE DISEQUILIBRIUM; GENETIC ANCESTRY; ASSOCIATION; RISK; STRATIFICATION; PREDICTION; BIOLOGY; IMPACT;
D O I
10.1177/00811750241236482
中图分类号
C91 [社会学];
学科分类号
030301 ; 1204 ;
摘要
Polygenic indices (PGI)-the new recommended label for polygenic scores in social science applications-are genetic summary scales often used to represent an individual's liability for a disease, trait, or behavior on the basis of the additive effects of measured genetic variants. Enthusiasm for linking genetic data with social outcomes and the inclusion of premade PGIs in social science data sets have facilitated increased uptake of PGIs in social science research, a trend that will likely continue. Yet most social scientists lack the expertise to interpret and evaluate PGIs in social science research. Here, I provide a primer on PGIs for social scientists focusing on key concepts, unique statistical genetic considerations, and best practices in calculation, estimation, reporting, and interpretation. I summarize recommended best practices as a checklist to aid social scientists in evaluating and interpreting studies with PGIs. I conclude by discussing the similarities between PGIs and standard social science scales and unique interpretative considerations.
引用
收藏
页码:300 / 350
页数:51
相关论文
共 164 条
  • [1] Abdellaoui A, 2022, NAT GENET, V54, DOI 10.1038/s41588-022-01158-0
  • [2] New insights into the generation and role of de novo mutations in health and disease
    Acuna-Hidalgo, Rocio
    Veltman, Joris A.
    Hoischen, Alexander
    [J]. GENOME BIOLOGY, 2016, 17
  • [3] A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
    Adhikari, Kaustubh
    Mendoza-Revilla, Javier
    Sohail, Anood
    Fuentes-Guajardo, Macarena
    Lampert, Jodie
    Chacon-Duque, Juan Camilo
    Hurtado, Malena
    Villegas, Valeria
    Granja, Vanessa
    Acuna-Alonzo, Victor
    Jaramillo, Claudia
    Arias, William
    Barquera Lozano, Rodrigo
    Everardo, Paola
    Gomez-Valdes, Jorge
    Villamil-Ramirez, Hugo
    Silva de Cerqueira, Caio C.
    Hunemeier, Tabita
    Ramallo, Virginia
    Schuler-Faccini, Lavinia
    Salzano, Francisco M.
    Gonzalez-Jose, Rolando
    Bortolini, Maria-Catira
    Canizales-Quinteros, Samuel
    Gallo, Carla
    Poletti, Giovanni
    Bedoya, Gabriel
    Rothhammer, Francisco
    Tobin, Desmond J.
    Fumagalli, Matteo
    Balding, David
    Ruiz-Linares, Andres
    [J]. NATURE COMMUNICATIONS, 2019, 10 (1)
  • [4] An integrated map of genetic variation from 1,092 human genomes
    Altshuler, David M.
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Donnelly, Peter
    Eichler, Evan E.
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Green, Eric D.
    Hurles, Matthew E.
    Knoppers, Bartha M.
    Korbel, Jan O.
    Lander, Eric S.
    Lee, Charles
    Lehrach, Hans
    Mardis, Elaine R.
    Marth, Gabor T.
    McVean, Gil A.
    Nickerson, Deborah A.
    Schmidt, Jeanette P.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Dinh, Huyen
    Kovar, Christie
    Lee, Sandra
    Lewis, Lora
    Muzny, Donna
    Reid, Jeff
    Wang, Min
    Wang, Jun
    Fang, Xiaodong
    Guo, Xiaosen
    Jian, Min
    Jiang, Hui
    Jin, Xin
    Li, Guoqing
    Li, Jingxiang
    Li, Yingrui
    Li, Zhuo
    Liu, Xiao
    Lu, Yao
    Ma, Xuedi
    Su, Zhe
    Tai, Shuaishuai
    Tang, Meifang
    [J]. NATURE, 2012, 491 (7422) : 56 - 65
  • [5] Population Structure and Cryptic Relatedness in Genetic Association Studies
    Astle, William
    Balding, David J.
    [J]. STATISTICAL SCIENCE, 2009, 24 (04) : 451 - 471
  • [6] Exome sequencing and analysis of 454,787 UK Biobank participants
    Backman, Joshua D.
    Li, Alexander H.
    Marcketta, Anthony
    Sun, Dylan
    Mbatchou, Joelle
    Kessler, Michael D.
    Benner, Christian
    Liu, Daren
    Locke, Adam E.
    Balasubramanian, Suganthi
    Yadav, Ashish
    Banerjee, Nilanjana
    Gillies, Christopher E.
    Damask, Amy
    Liu, Simon
    Bai, Xiaodong
    Hawes, Alicia
    Maxwell, Evan
    Gurski, Lauren
    Watanabe, Kyoko
    Kosmicki, Jack A.
    Rajagopal, Veera
    Mighty, Jason
    Jones, Marcus
    Mitnaul, Lyndon
    Stahl, Eli
    Coppola, Giovanni
    Jorgenson, Eric
    Habegger, Lukas
    Salerno, William J.
    Shuldiner, Alan R.
    Lotta, Luca A.
    Overton, John D.
    Cantor, Michael N.
    Reid, Jeffrey G.
    Yancopoulos, George
    Kang, Hyun M.
    Marchini, Jonathan
    Baras, Aris
    Abecasis, Goncalo R.
    Ferreira, Manuel A. R.
    [J]. NATURE, 2021, 599 (7886) : 628 - +
  • [7] A tutorial on statistical methods for population association studies
    Balding, David J.
    [J]. NATURE REVIEWS GENETICS, 2006, 7 (10) : 781 - 791
  • [8] Population Genetics: Why structure matters
    Barton, Nick
    Hermisson, Joachim
    Nordborg, Magnus
    [J]. ELIFE, 2019, 8
  • [9] Resource profile and user guide of the Polygenic Index Repository
    Becker, Joel
    Burik, Casper A. P.
    Goldman, Grant
    Wang, Nancy
    Jayashankar, Hariharan
    Bennett, Michael
    Belsky, Daniel W.
    Linner, Richard Karlsson
    Ahlskog, Rafael
    Kleinman, Aaron
    Hinds, David A.
    Caspi, Avshalom
    Corcoran, David L.
    Moffitt, Terrie E.
    Poulton, Richie
    Sugden, Karen
    Williams, Benjamin S.
    Harris, Kathleen Mullan
    Steptoe, Andrew
    Ajnakina, Olesya
    Milani, Lili
    Esko, Tonu
    Iacono, William G.
    McGue, Matt
    Magnusson, Patrik K. E.
    Mallard, Travis T.
    Harden, K. Paige
    Tucker-Drob, Elliot M.
    Herd, Pamela
    Freese, Jeremy
    Young, Alexander
    Beauchamp, Jonathan P.
    Koellinger, Philipp
    Oskarsson, Sven
    Johannesson, Magnus
    Visscher, Peter M.
    Meyer, Michelle N.
    Laibson, David
    Cesarini, David
    Benjamin, Daniel J.
    Turley, Patrick
    Okbay, Aysu
    [J]. NATURE HUMAN BEHAVIOUR, 2021, 5 (12) : 1744 - +
  • [10] Reduced signal for polygenic adaptation of height in UK Biobank
    Berg, Jeremy J.
    Harpak, Arbel
    Sinnott-Armstrong, Nasa
    Joergensen, Anja Moltke
    Mostafavi, Hakhamanesh
    Field, Yair
    Boyle, Evan August
    Zhang, Xinjun
    Racimo, Fernando
    Pritchard, Jonathan K.
    Coop, Graham
    [J]. ELIFE, 2019, 8