Allelic frequencies of six polymorphic markers for risk of prostate cancer

Abstract

The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer. We studied 200 individuals from two cities in the State of São Paulo, by PCR, PCR-RFLP and ASOH techniques. The allelic frequencies of the autosomal markers and the StuI polymorphism of the AR gene were very similar to those described in most North American and European populations. In relation to the CAG and GGN number of repeats, the study subjects had smaller repeat lengths (mean of 20.65 and 22.38, respectively) than those described in North American, European and Chinese populations. In the present study, 30.5% of the individuals had less than 22 CAG repeats and 45.5% had less than 23 GGN repeats. When both repeat lengths are considered jointly, this Brazilian population is remarkably different from the others. Further studies on prostate cancer patients need to be conducted to assess the significance of these markers in the Brazilian population.

Evidence for association of the G1733A polymorphism of the androgen receptor gene with recurrent spontaneous abortions

“…Previous data indicated that the allele frequencies of the G1733A polymorphism vary among different populations. In Mediterranean populations, the A allele frequency increases from 0.08 in coastal Sardinians to 0.22 in Spanish Basques (41), whereas it has been found to be 0.13 in white North Americans (13), 0.2 in Brazilians (42), and approximately 0.27 in North African populations (41).…”

Genotyping the High Altitude Mestizo Ecuadorian Population Affected with Prostate Cancer

“…Moreover, Madjunkova et al reported a mean repeat length of 21.5 CAGs in patients with PC from Macedonia [92]. Beilin et al examined prostate adenocarcinomas, and the number of CAG repeats ranged from 12 to 30 and averaged 20, which was similar to that in a healthy Brazilian population [91]. Paz-y-Miño et al reported that the repeat range in the mestizo control group was 16–30, with an average of 22, resembling Asians and Caucasians.…”

“…The normal distribution of the CAG repeats is reported in a range of 6–39, with an average of 19-20 in African Americans, 21-22 in Caucasians, 22-23 in Asians, and 23 in Hispanics [90]. However and regarding South American countries, Brazil reported an average of 20.65 CAGs [91]. Moreover, Madjunkova et al reported a mean repeat length of 21.5 CAGs in patients with PC from Macedonia [92].…”

PSAand Androgen-Related Gene (AR,CYP17, andCYP19) Polymorphisms and the Risk of Adenocarcinoma at Prostate Biopsy

“…The number of CAG repeats was calculated by subtracting the number of nucleotides in the invariant part of the PCR fragment from the total PCR product length and dividing the resulting number by three. Because the Brazilian population is known to be highly miscegenated, we used the cut-off data for CAG repeat lengths from Ribeiro et al (2002). These authors genotyped 200 individuals from two cities of Sao Paulo State, Brazil, and found the mean CAG repeat length to be 20.65.…”