<Emphasis Type="Italic">TP53</Emphasis> gene polymorphism: Importance to cancer,ethnicity and birth weight in a Brazilian cohort |
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Authors: | Helena S Thurow Ricardo Haack Fernando P Hartwig Isabel O de Oliveira Odir A Dellagostin Denise P Gigante Bernardo L Horta Tiago Collares Fabiana K Seixas |
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Institution: | (1) Functional Genomics Laboratory, Technology Development Centre (CDTec), Federal University of Pelotas (UFPel), Pelotas, RS, 96010-900, Brazil;(2) Post-Graduate Programme in Biotechnology, CDTec, UFPel, Pelotas, RS, 96010-900, Brazil;(3) Post-Graduate Programme in Epidemiology, UFPel, Pelotas, RS, 96020-220, Brazil; |
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Abstract: | Arg72Pro SNP of p53 has been associated with many types of cancer as well as with survival and longevity. We evaluated the
Arg72Pro SNP frequencies of a Brazilian birth cohort and their association with current, demographic and birth epidemiological
parameters available. In 1982, all hospital births of Pelotas, southern Brazil, were identified and studied prospectively.
In 2004–5, blood samples were collected and DNA extracted. PCR-RFLP was used to genotype the Arg72Pro SNP in 3794 individual
samples of the Brazil birth cohort and DNA sequencing was performed to confirm the genotypes. The genotype distribution, which
was in Hardy–Weinberg equilibrium, showed a predominance of the arginine amino acid with a frequency of 46.9% Arg/Arg, 42.2%
Arg/Pro and 10.9% Pro/Pro. The allele frequency was 0.68 of Arginine and 0.32 of Proline. The Arg72Pro SNP genotype and allelic
frequency were related to skin colour where proline amino acid was observed more among black subjects, while arginine amino
acid was observed more among white subjects. The individuals without family history of cancer and those with low birth weight
were associated with arginine amino acid. The Arg72Pro SNP was strongly associated with important epidemiological variables
confirming that genetic profiles on cohort studies can improve our understanding of the susceptibility of diseases and its
risk factors. |
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