SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group


Autoria(s): Santos, Paulo CJL; Soares, Renata Alonso Gadi; Nascimento, Raimundo M; Machado-Coelho, George LL; Mill, José G; Krieger, Jose Eduardo; Pereira, Alexandre C
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

14/10/2013

14/10/2013

2011

Resumo

Background Recent studies reported the association between SLCO1B1 polymorphisms and the development of statin-induced myopathy. In the scenario of the Brazilian population, being one of the most heterogeneous in the world, the main aim here was to evaluate SLCO1B1 polymorphisms according to ethnic groups as an initial step for future pharmacogenetic studies. Methods One hundred and eighty-two Amerindians plus 1,032 subjects from the general urban population were included. Genotypes for the SLCO1B1 rs4149056 (c.T521C, p.V174A, exon 5) and SLCO1B1 rs4363657 (g.T89595C, intron 11) polymorphisms were detected by polymerase chain reaction followed by high resolution melting analysis with the Rotor Gene 6000® instrument. Results The frequencies of the SLCO1B1 rs4149056 and rs4363657 C variant allele were higher in Amerindians (28.3% and 26.1%) and were lower in African descent subjects (5.7% and 10.8%) compared with Mulatto (14.9% and 18.2%) and Caucasian descent (14.8% and 15.4%) ethnic groups (p < 0.001 and p < 0.001, respectively). Linkage disequilibrium analysis show that these variant alleles are in different linkage disequilibrium patterns depending on the ethnic origin. Conclusion Our findings indicate interethnic differences for the SLCO1B1 rs4149056 C risk allele frequency among Brazilians. These data will be useful in the development of effective programs for stratifying individuals regarding adherence, efficacy and choice of statin-type.

PCJLS is recipient from fellowship from FAPESP, Proc. 2010-17465-8, Brazil. The technical assistance of the Laboratory of Genetics and Molecular Cardiology group, Heart Institute group is gratefully acknowledged.

Identificador

BMC Medical Genetics, London, v.12, 2011

1471-2350

http://www.producao.usp.br/handle/BDPI/34665

10.1186/1471-2350-12-136

http://www.biomedcentral.com/1471-2350/12/136

Idioma(s)

eng

Publicador

BioMed Central

London

Relação

BMC Medical Genetics

Direitos

openAccess

Santos et al; licensee BioMed Central Ltd. - This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Tipo

article

original article

publishedVersion