1. Increased age-adjusted hazard of death associated with a common single nucleotide polymorphism of the human RAD52 gene in a cardiovascular cohort
- Author
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Julie Bienertová-Vašků, Filip Zlámal, Ladislav Groch, Ota Hlinomaz, Peter Lenart, and Jan Máchal
- Subjects
Male ,Risk ,0301 basic medicine ,Oncology ,Heterozygote ,Aging ,Longitudinal study ,medicine.medical_specialty ,DNA Repair ,Genotype ,DNA damage ,Single-nucleotide polymorphism ,Disease ,Biology ,Polymorphism, Single Nucleotide ,Cohort Studies ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,SNP ,DNA Breaks, Double-Stranded ,Genetic Predisposition to Disease ,Longitudinal Studies ,Aged ,Proportional Hazards Models ,Genetics ,Heterozygote advantage ,Middle Aged ,Rad52 DNA Repair and Recombination Protein ,3. Good health ,DNA-Binding Proteins ,MRE11A ,030104 developmental biology ,Cardiovascular Diseases ,Multivariate Analysis ,Mutation ,Cohort ,Female ,DNA Damage ,Developmental Biology - Abstract
Aging may be characterized as the progressive increase of the risk of death caused by a decrease of almost all bodily functions. While a great number of model organism studies have established the role of DNA double strand breaks (DSBs) as one of the main causes of aging, few studies have examined whether common polymorphisms in human DSB repair genes influence aging and mortality. More importantly, to the best of our knowledge, no longitudinal study has thus far examined the link between polymorphisms in DSB repair and the risk of death. This longitudinal study thus analyses whether four common polymorphisms (rs2155209, rs7963551, rs17105278, rs2735383) in four selected DSB repair genes (MRE11A, RAD52, RAD51B, NBS1) influence the hazard of age-adjusted death in a cohort of patients with typical symptoms of ischemic heart disease. The results have shown that rs7963551 G/T heterozygotes exhibit a significantly increased hazard of death when compared with the combined GG and TT homozygotes (HR = 1.42, 95% CI: 1.06–1.91, p = 0.018). This study indicates that the SNP affecting efficiency of DSB repair may influence aging in humans.
- Published
- 2017