RESUMO
We studied the genetic diversity of the Yakut population using exome sequencing. We performed comparative analysis of the Yakut population and the populations that are included in the "1000 Genomes" project and we identified the alleles specific to the Yakut population. We showed, that the Yakuts population is a separate cluster between Europeans and East Asians.
Assuntos
Etnicidade/genética , Exoma/genética , Variação Genética , Heterozigoto , Homozigoto , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The genetic polymorphism of enzymes of synthesis and metabolism of estrogens can input into predisposition to breast cancer. The purpose of actual study was to analyze the associations of polymorphic loci CYP17/B1rs10556836, CYP1A 1rs1048943, CYP1A2rs762551, CYP19A1rs2470152 and CYP17A1rs743572 with risk of development of breast cancer in Russian residents of the Western-Siberian region of Russia. The rates of alleles and genotypes of the given loci were determined in sampling of women suffering with breast cancer (n = 670 females) and in control group (480 females without oncological diseases). The sub-groups of patients with breast cancer in pre-menopause--and post-menopause were analyzed separately. The border-line association of locus CYP17A1rs743572 is demonstrated with increasing of risk of breast cancer during pre-menopause (allele C: p = 0.04). Among the rest of polymorphic loci no association was detected.
Assuntos
Aromatase/genética , Neoplasias da Mama/genética , Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP1A2/genética , Polimorfismo de Nucleotídeo Único , Esteroide 17-alfa-Hidroxilase/genética , Fatores Etários , Idoso , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-IdadeRESUMO
In the present study we investigated the association of a number of polymorphic changes in antioxidant system genes (SNPs rs1050450 in the GPX1 gene, rs1695 and rs1138272 in the GSTP1 gene and rs4880 in the MnSOD gene) with the risk of prostate cancer. The association of disease stage and PSA levels with specific genotypes was also analyzed. A study was conducted with the participation of 736 Russian men. We compared the frequency of occurrence of the studied alleles in patients with prostate cancer (392) to a control group (344) of men without a history of cancer. Genotyping was performed by real-time PCR. Comparison of frequencies of alleles and genotypes were performed using logistic regression analysis. No statistically significant association with the risk of prostate cancer was found for any of the SNPs studied (p > 0.05). For SNP rs1695 in the GSTP1 gene, a correlation with cancer disease stage was observed: a GG genotype is significantly more common in patients with PCa in the 3rd and 4th stage than 1st and 2nd (OR[95%CI] = 2.66[1.15-6.18], p = 0.02). Both studied SNPs of GSTP1 gene are associated with the level of PSA: the GG rs1695 and the TT rs1138272 genotypes are associated with higher PSA levels (p = 1.5*10(-3)).
Assuntos
Antioxidantes/metabolismo , Glutationa Peroxidase/genética , Glutationa S-Transferase pi/genética , Polimorfismo de Nucleotídeo Único/genética , Neoplasias da Próstata/genética , Superóxido Dismutase/genética , Adulto , Idoso , Estudos de Casos e Controles , Seguimentos , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Neoplasias da Próstata/patologia , Fatores de Risco , Federação Russa , Taxa de Sobrevida , Glutationa Peroxidase GPX1RESUMO
Allelic variants of folate cycle enzyme genes can contribute to predisposition to cancer. The impact of polymorphic loci A2756G of MTR gene and of C1420T of SHMT1 gene for the risk of prostatic cancer was studied in residents of West Siberia. The frequency of alleles of these loci in patients (N=371) and controls (N=285) was determined and the data were statistically processed. No statistically significant association with prostatic cancer was detected for any of the studied loci.
