Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and population relationships

Esteban, Esther; Rodón, Natàlia; Via, Marc; González-Pérez, Emili; Santamaria, Joseph; Dugoujon, Jean Michel; Chennawi, Farha El; Melhaoui, M.; Cherkaoui, Mohamed; Vona, Giuseppe; Harich, Nourdin; Moral, Pedro

doi:10.1007/s10038-005-0336-7

Cited by 40 publications

(47 citation statements)

References 21 publications

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“…The recent article by Rajender et al (2007) provides a nice review on the AR CAG and GGN repeats with respect to their function and their statistical association with a wide range of clinical phenotypes. Studies comparing the distribution of allele sizes for the CAG and GGN microsatellite repeat polymorphisms between different populations have noted shorter repeat lengths, on average, in men of African versus Caucasian descent (Kittles et al 2001;Esteban et al 2006). Consistent with the in vitro studies showing increased activity of the AR product with shorter AR CAG and GGN repeat alleles, studies have also found increased AR protein expression levels in prostatic tissues from men of African descent (Gaston et al 2003;Olapade-Olaopa et al 2004).…”

Section: Introductionmentioning

confidence: 59%

The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men’s Health Study

et al. 2008

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Repeat lengths of the CAG and GGN microsatellites in exon 1 of the androgen receptor (AR) gene have been hypothesized to be associated with prostate cancer risk. In vitro studies have showed an inverse association between AR CAG and GGN repeat length and activity levels of the AR product. It is known that men of African descent have a higher incidence of and greater mortality from prostate cancer than men of Caucasian or Asian descent and, on average, a smaller number of repeats at AR CAG and GGN. Consistent with these findings, studies have also found increased AR protein expression levels in benign prostatic hyperplasia and prostatic diseased tissues from men of African descent. Despite these findings, limited studies have been conducted to evaluate the association between repeat lengths at AR CAG and prostate cancer risk in African Americans. Our study is the first such study to examine whether repeat length of the AR GGN repeat is associated with prostate cancer risk in African Americans. We found no evidence for an association between AR CAG or GGN repeat lengths and prostate cancer risk in a population-based sample of African Americans.

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Section: Introductionmentioning

confidence: 59%

The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men’s Health Study

et al. 2008

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“…This autosomal genetic study carried out in 15 anthropologically well-defined Mediterranean populations was designed to analyze population relationships and give complementary insight on that derived from previous genetic studies (Quintana-Murci et al, 2003;Esteban et al, 2006;Gerard et al, 2006;Olivieri et al, 2006;Gonzá lez-Pérez et al, 2007;Tomas et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Population relationships in the Mediterranean revealed by autosomal genetic data (Alu and Alu/STR compound systems)

González-Pérez

Esteban

Via

et al. 2009

American J Phys Anthropol

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The variation of 18 Alu polymorphisms and 3 linked STRs was determined in 1,831 individuals from 15 Mediterranean populations to analyze the relationships between human groups in this geographical region and provide a complementary perspective to information from studies based on uniparental markers. Patterns of population diversity revealed by the two kinds of markers examined were different from one another, likely in relation to their different mutation rates. Therefore, while the Alu biallelic variation underlies general heterogeneity throughout the whole Mediterranean region, the combined use of Alu and STR points to a considerable genetic differentiation between the two Mediterranean shores, presumably strengthened by a considerable sub-Saharan African genetic contribution in North Africa (around 13% calculated from Alu markers). Gene flow analysis confirms the permeability of the Sahara to human passage along with the existence of trans-Mediterranean interchanges. Two specific Alu/STR combinations-CD4 110(-) and DM 107(-)-detected in all North African samples, the Iberian Peninsula, Greece, Turkey, and some Mediterranean islands suggest an ancient genetic background of current Mediterranean peoples.

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“…Multiple candidates have been suggested, including genes that aVect susceptibility to oxidative DNA damage, growthrelated pathways, androgen receptor signaling, chronic inXammatory responses, and RNA processing (Rennert et al 2005;Shand and Gelmann 2006;Sarma et al 2008;Zabaleta et al, 2008). Several of these candidate genes have been investigated for diVerential distribution of allelic variants that may aVect risk, and cohorts from Africa and those of African descent have the highest frequencies of the putative risk alleles (Esteban et al 2006;Kittles et al 2001;Zeigler-Johnson et al 2002). Of interest is that one study found an association with a CYP3A4 promoter variant in both African Americans and European Americans, but not in Nigerians, indicating the complexity of analyzing stratiWed data (Kittles et al 2002;Hainaut and Boyle 2008;Lessells and Cooke 2008) (Table 5).…”

Section: Prostate Cancermentioning

confidence: 98%

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

et al. 2008

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Africa is the ultimate source of modern humans and as such harbors more genetic variation than any other continent. For this reason, studies of the patterns of genetic variation in African populations are crucial to understanding how genes affect phenotypic variation, including disease predisposition. In addition, the patterns of extant genetic variation in Africa are important for understanding how genetic variation affects infectious diseases that are a major problem in Africa, such as malaria, tuberculosis, schistosomiasis, and HIV/AIDS. Therefore, elucidating the role that genetic susceptibility to infectious diseases plays is critical to improving the health of people in Africa. It is also of note that recent and ongoing social and cultural changes in sub-Saharan Africa have increased the prevalence of non-communicable diseases that will also require genetic analyses to improve disease prevention and treatment. In this review we give special attention to many of the past and ongoing studies, emphasizing those in Sub-Saharan Africans that address the role of genetic variation in human disease.

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Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and population relationships

Abstract: Microsatellite variation (CAG and GGC

Cited by 40 publications

References 21 publications

The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men’s Health Study

The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men’s Health Study

Population relationships in the Mediterranean revealed by autosomal genetic data (Alu and Alu/STR compound systems)

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

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