Frequency of the Q192R and L55M polymorphisms of the human serum paraoxonase gene (PON1) in ten Amazonian Amerindian tribes

• Main Authors: Ney Pereira Carneiro dos Santos, Ândrea KC Ribeiro-dos-Santos, Sidney EB Santos
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Genética 2005-03-01
• Series: Genetics and Molecular Biology
• Subjects: human serum paraoxonase; populations genetics; Amerindian; PON1; Amazonian populations
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100006

Human serum paraoxonase (PON1) is an esterase associated with high density lipoproteins (HDLs) in the plasma and may confer protection against coronary artery disease. Serum PON1 levels and activity vary widely among individuals and populations of different ethnic groups, such variations appearing to be related to two coding region polymorphisms (L55M and Q192R). Several independent studies have indicated that the polymorphism at codon 192 (the R form) is a significant risk factor for cardiovascular disease in some populations, although this association has not been confirmed in other populations. Given the possible associations of these mutations with heart diseases and the fact that little or nothing is known of their prevalence in Amerindian populations, we investigated the variability of both polymorphisms in ten Amazonian Indian tribes and compared the variation found with that of other Asian populations in which both polymorphisms have been investigated. The results show that the LR haplotype is the most frequent and the MR haplotype is absent in all Amerindians and Asian populations. We also found that South America Amerindians present the highest frequency of the PON1192*R allele (considered a significant risk factor for heart diseases in some populations) of all the Amerindian and Asian populations so far studied.