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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Acknowledgements
This work was supported by the World Health Organization (Department of Child and Adolescent Health) and the Welcome Trusts initiative entitled Major Awards for Latin America on Health Consequences of Population Change. Earlier phases of the 1982 cohort study were funded by the International Development Research Center (Canada), the World Health Organization (Department of Child and Adolescent Health and Development, and Human Reproduction Programme), the Overseas Development Administration (United Kingdom), the United Nations Development Fund for Women, the National Program for Centers of Excellence (Brazil), the National Research Council (Brazil) and the Ministry of Health (Brazil). This work was also supported by Brazilian CNPq and FAPERGS. HST was supported by CAPES and FPH was supported by FAPERGS.
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Corresponding editor: Sarah H Elsea
[Thurow HS, Haack R, Hartwig FP, de Oliveira IO, Dellagostin OA, Gigante DP, Horta BL, Collares T and Seixas FK 2011 TP53 gene polymorphism: Importance to cancer, ethnicity and birth weight in a Brazilian cohort. J. Biosci. 36 1–9] DOI
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Thurow, H.S., Haack, R., Hartwig, F.P. et al. TP53 gene polymorphism: Importance to cancer, ethnicity and birth weight in a Brazilian cohort. J Biosci 36, 823–831 (2011). https://doi.org/10.1007/s12038-011-9147-5
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DOI: https://doi.org/10.1007/s12038-011-9147-5