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TIMP2 gene polymorphism as a potential tool to infer Brazilian population origin

Authors da Silva R, Shinohara AL, Andia DC, Letra A, Peres RC, Souza AP

Received 29 August 2013

Accepted for publication 31 October 2013

Published 6 December 2013 Volume 2013:3 Pages 11—15


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Rodrigo Augusto da Silva,1 André Luis Shinohara,2 Denise Carleto Andia,1 Ariadne Letra,3 Regina Célia Peres,1 Ana Paula de Souza1

1Department of Morphology, Piracicaba Dental School, State University of Campinas, 2Oral Biology Program, Bauru Dental School, State University of São Paulo, São Paulo, Brazil; 3Department of Endodontics and Center for Craniofacial Research, School of Dentistry, University of Texas Health Science Center, Houston, TX, USA

Abstract: Single nucleotide polymorphisms are genome variations that can be used as population-specific markers to infer genetic background and population origin. The Brazilian population is highly admixed due to immigration from several other populations. In particular, the state of São Paulo is recognized for the presence of Japanese individuals who seem likely to have contributed to a substantial proportion of ancestry in the modern Brazilian population. In the present study, we analyzed allele and genotype frequencies and associations of the –418G>C (rs8179090) single nucleotide polymorphism in the TIMP2 gene promoter in Brazilian and Japanese subjects, as well as in Japanese descendants from southeastern Brazil. The allele and genotype frequency analyses among groups demonstrated statistical significance (P<0.001) and the rare C allele was not found in 200 unrelated Brazilian subjects, while its distribution in Japanese individuals and Japanese descendants was 18.7% and 10.3%, respectively. Individuals with the C allele were about 70 times more likely to be Japanese and 41 times more likely to be Japanese descendants compared with Brazilian individuals (odds ratio 69.09, 95% confidence interval 9.35–510 for Japanese; and odds ratio 41.38, 95% confidence interval 4.80–356.15 for Japanese descendants). Taken together, these findings suggest that subjects carrying the C allele, located in the −418G>C single nucleotide polymorphism of the TIMP2 gene, have a high probability of being Japanese or Japanese descendants. In addition to other genetic polymorphisms, the −418G>C TIMP2 polymorphism could be a population marker to assist in predicting Japanese ancestry, both in Japanese individuals and in admixed populations.

Keywords: Brazilian, Japanese, polymorphism, allele, TIMP2

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