Minimal SNP overlap among multiple panels of ancestry informative markers argues for more international collaboration

被引:42
作者
Soundararajan, Usha [1 ]
Yun, Libing [1 ,2 ]
Shi, Meisen [1 ,3 ]
Kidd, Kenneth K. [1 ]
机构
[1] Yale Univ, Sch Med, Dept Genet, 333 Cedar St, New Haven, CT 06520 USA
[2] Sichuan Univ, Inst Forens Med, West China Coll Preclin & Forens Med, 16 Sect 3,RenMin Nan Rd, Chengdu 610041, Sichuan, Peoples R China
[3] China Univ Polit Sci & Law, Minist Educ, Key Lab Evidence Sci, Beijing 100088, Peoples R China
基金
美国国家科学基金会;
关键词
Ancestry inference; Ancestry informative (AI) SNPs; Biogeographic regions; Reference populations; Population genetics; STRUCTURE; MULTILOCUS GENOTYPE DATA; POPULATION-STRUCTURE; MITOCHONDRIAL-DNA; INFERENCE; ASSAY; ORIGIN; POLYMORPHISM; DIVERSITY; ADMIXTURE; SAMPLES;
D O I
10.1016/j.fsigen.2016.01.013
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The century-old use of genetic markers to determine population relationships has morphed in modern forensics into use of markers to determine the ancestry of an individual from a DNA sample. Researchers have identified sets of SNPs that have frequency differences among populations and many sets of SNPs have been published for the purpose of inferring ancestry. Such inference also requires reference datasets for the particular set of SNPs selected. We have identified 21 largely independent published panels of ancestry informative SNPs (AISNPs) and examined their union of 1397 SNPs. No SNP occurs in more than 6 panels. The 1397 SNPs in 21 panels yield a largely empty matrix that is inhibiting progress on more refined ability to infer ancestry for a forensic sample. The most common set of reference populations is the HGDP set of 52 small population samples totaling a thousand individuals. Only 46 (3%) of the 1397 SNPs occur in three or more panels. We assembled a new dataset for 44 of those SNPs involving 4,559 individuals from 73 populations. Analyses of this dataset provided clear differentiation of only five biogeographic regions: sub-Saharan Africa, Europe and SW Asia, South Asia, East Asia, and the Americas. This is an inadequate level of biogeographic resolution already exceeded by other panels. We conclude that more such AISNP panels are not needed and that the forensic community must collaborate to develop a common set of highly differentiating AISNPs typed on a very large number of population samples. How that can be accomplished will be the subject of future discussion. a 2016 The Authors. Published by Elsevier Ireland Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
引用
收藏
页码:25 / 32
页数:8
相关论文
共 35 条
[1]   A map of human genome variation from population-scale sequencing [J].
Altshuler, David ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Collins, Francis S. ;
De la Vega, Francisco M. ;
Donnelly, Peter ;
Egholm, Michael ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Knoppers, Bartha M. ;
Lander, Eric S. ;
Lehrach, Hans ;
Mardis, Elaine R. ;
McVean, Gil A. ;
Nickerson, DebbieA. ;
Peltonen, Leena ;
Schafer, Alan J. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Deiros, David ;
Metzker, Mike ;
Muzny, Donna ;
Reid, Jeff ;
Wheeler, David ;
Wang, Jun ;
Li, Jingxiang ;
Jian, Min ;
Li, Guoqing ;
Li, Ruiqiang ;
Liang, Huiqing ;
Tian, Geng ;
Wang, Bo ;
Wang, Jian ;
Wang, Wei ;
Yang, Huanming ;
Zhang, Xiuqing ;
Zheng, Huisong ;
Lander, Eric S. ;
Altshuler, David L. ;
Ambrogio, Lauren ;
Bloom, Toby ;
Cibulskis, Kristian ;
Fennell, Tim J. ;
Gabriel, Stacey B. .
NATURE, 2010, 467 (7319) :1061-1073
[2]   A SNP multiplex for the simultaneous prediction of biogeographic ancestry and pigmentation type [J].
Bulbul, O. ;
Filoglu, G. ;
Altuncul, H. ;
Freire Aradas, A. ;
Ruiz, Y. ;
Fondevila, M. ;
Phillips, C. ;
Carracedo, A. ;
Kriegel, A. K. ;
Schneider, P. M. .
FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES, 2011, 3 (01) :E500-E501
[3]  
Cann HM, 2002, SCIENCE, V296, P261
[4]   MITOCHONDRIAL-DNA AND HUMAN-EVOLUTION [J].
CANN, RL ;
STONEKING, M ;
WILSON, AC .
NATURE, 1987, 325 (6099) :31-36
[5]  
Cavalli-Sforza L.L., 1994, HIST GEOGRAPHY HUMAN
[6]   A Panel of Ancestry Informative Markers for the Complex Five-Way Admixed South African Coloured Population [J].
Daya, Michelle ;
van der Merwe, Lize ;
Galal, Ushma ;
Moeller, Mario ;
Salie, Muneeb ;
Chimusa, Emile R. ;
Galanter, Joshua M. ;
van Helden, Paul D. ;
Henn, Brenna M. ;
Gignoux, Chris R. ;
Hoal, Eileen .
PLOS ONE, 2013, 8 (12)
[7]  
Falush D, 2003, GENETICS, V164, P1567
[8]   Inference of population structure using multilocus genotype data: dominant markers and null alleles [J].
Falush, Daniel ;
Stephens, Matthew ;
Pritchard, Jonathan K. .
MOLECULAR ECOLOGY NOTES, 2007, 7 (04) :574-578
[9]   Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas [J].
Galanter, Joshua Mark ;
Carlos Fernandez-Lopez, Juan ;
Gignoux, Christopher R. ;
Barnholtz-Sloan, Jill ;
Fernandez-Rozadilla, Ceres ;
Via, Marc ;
Hidalgo-Miranda, Alfredo ;
Contreras, Alejandra V. ;
Uribe Figueroa, Laura ;
Raska, Paola ;
Jimenez-Sanchez, Gerardo ;
Silva Zolezzi, Irma ;
Torres, Maria ;
Ruiz Ponte, Clara ;
Ruiz, Yarimar ;
Salas, Antonio ;
Nguyen, Elizabeth ;
Eng, Celeste ;
Borjas, Lisbeth ;
Zabala, William ;
Barreto, Guillermo ;
Rondon Gonzalez, Fernando ;
Ibarra, Adriana ;
Taboada, Patricia ;
Porras, Liliana ;
Moreno, Fabian ;
Bigham, Abigail ;
Gutierrez, Gerardo ;
Brutsaert, Tom ;
Leon-Velarde, Fabiola ;
Moore, Lorna G. ;
Vargas, Enrique ;
Cruz, Miguel ;
Escobedo, Jorge ;
Rodriguez-Santana, Jose ;
Rodriguez-Cintron, William ;
Chapela, Rocio ;
Ford, Jean G. ;
Bustamante, Carlos ;
Seminara, Daniela ;
Shriver, Mark ;
Ziv, Elad ;
Burchard, Esteban Gonzalez ;
Haile, Robert ;
Parra, Esteban ;
Carracedo, Angel .
PLOS GENETICS, 2012, 8 (03)
[10]   A 50-SNP assay for biogeographic ancestry and phenotype prediction in the US population [J].
Gettings, Katherine Butler ;
Lai, Ronald ;
Johnson, Joni L. ;
Peck, Michelle A. ;
Hart, Jessica A. ;
Gordish-Dressman, Heather ;
Schanfield, Moses S. ;
Podini, Daniele S. .
FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2014, 8 (01) :101-108