Article

Journal of Biosciences

, Volume 36, Issue 5, pp 823-831

First online:

TP53 gene polymorphism: Importance to cancer, ethnicity and birth weight in a Brazilian cohort

  • Helena S ThurowAffiliated withFunctional Genomics Laboratory, Technology Development Centre (CDTec), Federal University of Pelotas (UFPel)Post-Graduate Programme in Biotechnology, CDTec, UFPel
  • , Ricardo HaackAffiliated withPost-Graduate Programme in Epidemiology, UFPel
  • , Fernando P HartwigAffiliated withFunctional Genomics Laboratory, Technology Development Centre (CDTec), Federal University of Pelotas (UFPel)
  • , Isabel O de OliveiraAffiliated withPost-Graduate Programme in Epidemiology, UFPel
  • , Odir A DellagostinAffiliated withFunctional Genomics Laboratory, Technology Development Centre (CDTec), Federal University of Pelotas (UFPel)Post-Graduate Programme in Biotechnology, CDTec, UFPel
  • , Denise P GiganteAffiliated withPost-Graduate Programme in Epidemiology, UFPel
  • , Bernardo L HortaAffiliated withPost-Graduate Programme in Epidemiology, UFPel
  • , Tiago CollaresAffiliated withFunctional Genomics Laboratory, Technology Development Centre (CDTec), Federal University of Pelotas (UFPel)Post-Graduate Programme in Biotechnology, CDTec, UFPel
  • , Fabiana K SeixasAffiliated withFunctional Genomics Laboratory, Technology Development Centre (CDTec), Federal University of Pelotas (UFPel)Post-Graduate Programme in Biotechnology, CDTec, UFPel Email author 

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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.

Keywords

Arg72Pro birth cohort molecular epidemiology p53 SNP