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Freedman, M.L., Reich, D., Penney, K.L., McDonald, G.J., Mignault, A.A., Patterson, N., Gabriel, S.B., Topol, E.J., Smoller, J.W., Pato, C.N., Pato, M.T., Petryshen, T.L., Kolonel, L.N., Lander, E.S., Sklar, P., Henderson, B., Hirschhorn, J.N. and Altshuler, D. (2004) Assessing the Impact of Population Stratification on Genetic Association Studies. Nature Genetics, 36, 388-393.
https://doi.org/10.1038/ng1333

has been cited by the following article:

• TITLE: Association between Polymorphisms of SNPs Located at the 3’-Untranslated Region of SET8 and Codon 72 of the TP53 with Breast Cancer among Cameroonian Women

  AUTHORS: Arnol Auvaker Zébazé Tiofack, Elvis A. Ofon, Esther Dina Bell, Chancelin M. Kamla, Roger Tchamfong, Smiths Lueong, Gustave Simo

  KEYWORDS: SNPs, TP53, SET8, Breast Cancer, Women, Cameroon

  JOURNAL NAME: Journal of Biosciences and Medicines, Vol.8 No.11, November 9, 2020

  ABSTRACT: In sub-Saharan Africa, breast cancer (BC) constitutes a serious public health problem and the genetic basis of its development is remaining poorly understood. Although the SNPs at codon 72 of TP53 (rs1042522) and at the UTR of SET8 (rs16917496) have both been associated with BC development among Asian and European women, no published data has been reported within African population. We herein report on the impact of these polymorphisms on the risk of BC among Cameroonian women. Blood samples were collected from 111 breast cancer patients and 224 controls. DNA was extracted from each sample and PCR-RFLP was used to investigate the polymorphisms at SNPs rs1042522 of TP53 and rs16917496 of SET8. Association studies were performed according to ethno-linguistic groups and menopausal status. The minor allele “T” of SET8 gene revealed a protective effect in premenopausal women (OR, 0.327; 95% CI 0.125 - 0.852) while the CT genotype of SET8 was associated with increased risk of BC (OR, 2.93; 95% CI, 1.1 - 7.8). The minor “G” allele of TP53 gene was significantly associated (OR, 2.533; 95% CI, 1.455 - 4.408) with increased disease risk in premenopausal women while the CG genotype was significantly associated (OR, 0.39; 95% CI, 0.23 - 0.69) with decreased risk of BC. A synergistic genetic interaction at both loci for CC genotype of SET8 and CG genotype of TP53 was associated (OR, 0.46; 95% CI, 0.24 - 0.91) with reduced disease risk. No significant association between polymorphisms at the SET8 and TP53 loci and clinical pathologic features of BC was observed. This study suggests significant associations between the SNPs located at the 3’-UTR of SET8 and codon 72 of the TP53 with the risk of breast cancer development among premenopausal women. There is an interaction between TP53 and SET8 genes.