Assessing Individual Interethnic Admixture and Population Substructure Using a 48-Insertion-Deletion (INSEL) Ancestry-Informative Marker (AIM) Panel

• Type: Article in International Scientific Journal
• Date: 2010

Authors

Ney P C Santos (Author) Other; Elzemar M Ribeiro Rodrigues (Author) Other; Andrea K C Ribeiro dos Santos (Author) Other; Rui Pereira (Author) Other; Leonor Gusmao (Author) FCUP; Antonio Amorim (Author) FCUP; Joao F Guerreiro (Author) Other; Marco A Zago (Author) Other; Cecilia Matte (Author) Other; Mara H Hutz (Author) Other; Sidney E B Santos (Author) Other

Journal

Title: Human Mutation

Vol. 31

Pages: 184-190

ISSN: 1059-7794

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 225 Citations

Scopus - 254 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-003-9C8

DOI: 10.1002/humu.21159

Abstract (EN): Estimating the proportions of different ancestries in admixed populations is very important in population genetics studies, and it is particularly important for detecting population substructure effects in case-control association studies. In this work, a set of 48 ancestry, informative insertion, deletion polymorphisms (INDELs) were selected with the goal of efficiently measuring the proportions of three different ancestries (sub-Saharan African, European, and Native American) in mixed populations. All selected markers can be easily analyzed via multiplex PCR and detected with standard capillary electrophoresis. A total of 593 unrelated individuals representative of European, African, and Native American parental populations were typed, as were 380 individuals from three Brazilian populations with known admixture patterns. As expected, the interethnic admixture estimates show that individuals from southern Brazil present an almost exclusively European ancestry; Afro-descendant communities in the Amazon region, apart from the major African contribution, present some degree of admixture with Europeans and Native Americans; and a sample from Belem, in the northeastern Amazon, shows a significant contribution of the three ethnic groups, although with a greater European proportion. In summary, a panel of ancestry-informative INDELs was optimized and proven to be a variable tool for estimating individual and global ancestry proportions in admixed populations. The ability to accurately infer interethnic admixtures highlights the usefulness of this marker set for assessing population substructure in association studies, particularly those conducted in Brazilian and other Latin American populations sharing trihybrid ancestry patterns. Hum Mutat 31:184-190, 2010. (C) 2009 Wiley-Liss, Inc.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7