Gene variant linked to longevity

Spanish and Japanese centenarians have revealed of the genetic keys to longevity – a variant on a chromosome already associated with the risk of cardiovascular disease. There are number of gene variants that could hold the key to a healthy old age life and researchers have added a polymorphism called rs1333049 on chromosome 9p21.3 to the list. This polymorphism is related to chronic ailments associated with ageing, mainly coronary artery disease. The C allele is the copy of the gene which carries the greatest risk, and in order to find out whether this is also associated with extreme longevity, researchers performed analysis of the frequencies of this polymorphism among centenarians and healthy adults in two independent cohorts, by geographical regions and by ethnic groups. The study included 152 Spaniards between 110 and 11 years, and 742 Japanese aged between 100 and 115 years. The frequency of the C variant in Spanish people over the age of 100 was 47%, lower than in the healthy control group (52.9%) and individuals with cardiovascular disease (55.1%). “This variant maybe associated with extreme longevity, particularly among the Spanish population,” said Alejandro Lucía, researcher at the European University where the research was conducted. “The study also revealed that the risk allele reduced the possibilities of reaching one hundred years of age.” The results, published in Age, were different in the Japanese group: the frequency of the C-allele did not differ between centenarians (46.4 %) and healthy controls (47.3), but it was significantly lower in the former than in those with cardiovascular disease (57.2 %). The biological mechanisms through which the polymorphism could affect ageing are not known, but it is adjacent to the genes CDKN2A and CDKN2Bm which play an important role in cell cycle regulation. “In fact, CDKN2A takes part in the p53 signalling pathway, one of the most important ones in the cell senescence regulation,” said Lucía. Lucía believes that people over 100 years of age are not only the peak of the population pyramind, that represent a healthy ageing model as they have delayed or avoided chronic illnesses that come with age. The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts