Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)
作者： Stian Knappskog , Liv B Gansmo , Khadizha Dibirova , Andres Metspalu , Cezary Cybulski
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摘要: The MDM2 promoter SNP285C is located on the SNP309G allele. While enhances Sp1 transcription factor binding and transcription, antagonizes reduces risk of breast-, ovary- endometrial cancer. Assessing SNP285 309 genotypes across 25 different ethnic populations (>10.000 individuals), incidence was 6-8% European except for Finns (1.2%) Saami (0.3%). decreased towards Middle-East Eastern Russia, absent among Han Chinese, Mongolians African Americans. Interhaplotype variation analyses estimated to have originated about 14,700 years ago (95% CI: 8,300 - 33,300). Both this estimate geographical distribution suggest arisen after separation between Caucasians modern day East Asians (17,000 40,000 ago). We observed a strong inverse correlation (r = -0.805; p < 0.001) percentage alleles harboring MAF itself suggesting selection environmental adaptation with respect expression in recent human evolution. In conclusion, we found be pan-Caucasian variant. Ethnic regarding needs taken into account when assessing impact SNPs cancer risk.
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