High prevalence of the GSTM3*A/B polymorphism in sub-Sarahan African populations

• Main Authors: D. Teixeira, D. Vargens, A. Príncipe, E. Oliveira, A. Amorim, M.J. Prata, G. Suarez-Kurtz
• Format: Article
• Language: English
• Published: Associação Brasileira de Divulgação Científica 2010-07-01
• Series: Brazilian Journal of Medical and Biological Research
• Subjects: African populations; GSTM3 polymorphisms; Multidimensional scaling analysis; Pharmacogenetics; Population diversity
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000700010

A 3-bp insertion/deletion polymorphism in intron 6 of GSTM3 (rs1799735, GSTM3*A/*B) affects the activity of the phase 2 xenobiotic metabolizing enzyme GSTM3 and has been associated with increased cancer risk. The GSTM3*B allele is rare or absent in Southeast Asians, occurs in 5-20% of Europeans but was detected in 80% of Bantu from South Africa. The wide genetic diversity among Africans led us to investigate whether the high frequency of GSTM3*B prevailed in other sub-Saharan African populations. In 168 healthy individuals from Angola, Mozambique and the São Tomé e Príncipe islands, the GSTM3*B allele was three times more frequent (0.74-0.78) than the GSTM3*A allele (0.22-0.26), with no significant differences in allele frequency across the three groups. We combined these data with previously published results to carry out a multidimensional scaling analysis, which provided a visualization of the worldwide population affinities based on the GSTM3 *A/*B polymorphism.