Genetic Polymorphisms of Cytochromes P450 in Finno-Permic Populations of Russia.

Cytochrome P450 is an enzyme involved in the metabolism of phase 1 xenobiotics, toxins, endogenous hormones, and drugs, including those used in COVID-19 treatment. Cytochrome p450 genes are linked to the pathogenesis of some multifactorial traits and diseases, such as cancer, particularly prostate cancer, colorectal cancer, breast cancer, and cervical cancer. Genotyping was performed on 540 supposedly healthy individuals of 5 Finno-Permic populations from the territories of the European part of the Russian Federation.

Analysis of the GSTP1 rs1695 polymorphism association with the development of asthma and phenotypic manifestations.

Objective: The development of asthma and its related phenotypes is most likely due to the polymorphism of the so-called modifier genes. The goal of this study was to evaluate the polymorphic locus rs1695 of the gene association with risk factors for developing asthma and its phenotypic manifestations.

Methods: This case-control study involved 164 patients with confirmed asthma diagnosis and 147 age- and sex-matched controls.

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Background: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking.

Methods: We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes.

A Splice Site Variant of and Breast Cancer in Three Eurasian Populations.

CDK12 is a member of the cyclin-dependent kinase family that acts as regulator of DNA damage response gene expression. A c.1047-2A>G splice site variant of the gene was recently reported to strongly associate with hereditary breast and ovarian cancer in patients of Tatar ethnic origin.