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

BMC Medical Genetics

Alexandre C Pereira¹  José E Krieger¹  José G Mill³  George LL Machado-Coelho²  Raimundo M Nascimento²  Renata AG Soares¹  Paulo CJL Santos¹ 

[1] Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of Sao Paulo Medical School, (Av. Dr. Enéas de Carvalho Aguiar, 44), Sao Paulo, (05403-000), Brazil;Department of Medicine, Ouro Preto Federal University, (R. Diogo de Vasconcelos, 122), Ouro Preto, (35420-000), Brazil;Department of Physiology, Espirito Santo Federal University, (Av. Marechal Campos, 1468), Vitoria, (29040-577), Brazil

关键词: pharmacogenetic;    Amerindian;    myopathy;    statins;    rs4149056;    SLCO1B1;   

Others  :  1177972
DOI  :  10.1186/1471-2350-12-136

 received in 2011-03-01, accepted in 2011-10-12,  发布年份 2011

【 摘 要 】

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.

【 授权许可】

   
2011 Santos et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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