Nav: Home

Study finds new genetic variants associated with extreme old age

April 25, 2017

The search for the genetic determinants of extreme longevity has been challenging, with the prevalence of centenarians (people older than 100) just one per 5,000 population in developed nations.

But a recently published study by Boston University School of Public Health and School of Medicine researchers, which combines four studies of extreme longevity, has identified new rare variants in chromosomes 4 and 7 associated with extreme survival and with reduced risks for cardiovascular and Alzheimer's disease.

The results, published in the Journals of Gerontology: Biological Sciences, highlight the importance of studying "truly rare survival, to discover combinations of common and rare variants associated with extreme longevity and longer health span," the authors said.

The research group, led by Paola Sebastiani, professor of biostatistics the BU School of Public Health (BUSPH), created a consortium of four studies -- the New England Centenarian Study, the Long Life Family Study, the Southern Italian Centenarian Study, and the Longevity Gene Project - to build a large sample of 2,070 people who survived to the oldest one percentile of survival for the 1900 birth year cohort. The researchers conducted various analyses to discover longevity-associated variants (LAVs), and to characterize those LAVs that differentiated survival to extreme age.

Their analysis identified new "extreme longevity-promoting variants" on chromosomes 4 and 7, while also confirming variants (SNPs, or single nucleotide polymorphisms) previously associated with longevity.

In addition, in two of the datasets where researchers had age-of-onset data for age-related diseases, they found that certain longevity alleles also were significantly associated with reduced risks for cardiovascular disease and hypertension.

"The data and survival analysis provide support for the hypothesis that the genetic makeup of extreme longevity is based on a combination of common and rare variants, with common variants that create the background to survive to relatively common old ages (e.g. into the 80s and 90s), and specific combinations of uncommon and rare variants that add an additional survival advantage to even older ages," the authors wrote.

They said, however, that while the "yield of discovery" in the study was more substantial than in prior genome-wide association studies (GWAS) of extreme longevity, it remained disappointing, in that the two most significant genotypes discovered "are carried by a very small proportion of the cases included in the analysis," meaning that much of the genetic variability around extreme lifespan remains unexplained.

"We expect that many more uncommon genetic variants remain to be discovered through sequencing of centenarian samples," they wrote. "Larger sample sizes are needed to detect association of rare variants. . . and therefore promising associations that miss the threshold for genome-wide significance are important to discuss."
-end-
BU co-authors on the study include: Stacy Andersen, assistant professor of medicine at BUSM and study manager of the New England Centenarian Study; Thomas Perls, professor of medicine and geriatrics at BUSM and principal investigator of the New England Centenarian Study; and Anastasia Gurinovich, of the BU Bioinformatics Program.

The study was supported by funding from the National Institute on Aging, the National Heart Lung Blood Institute, and the William Wood Foundation.

Boston University Medical Center

Related Public Health Articles:

The Lancet Public Health: Ageism linked to poorer health in older people in England
Ageism may be linked with poorer health in older people in England, according to an observational study of over 7,500 people aged over 50 published in The Lancet Public Health journal.
Study: Public transportation use linked to better public health
Promoting robust public transportation systems may come with a bonus for public health -- lower obesity rates.
Bloomberg American Health Initiative releases special public health reports supplement
With US life expectancy now on the decline for two consecutive years, the Bloomberg American Health Initiative is releasing a supplement to Public Health Reports, the scholarly journal of the US Surgeon General.
Data does the heavy lifting: Encouraging new public health approaches to promote the health benefits of muscle-strengthening exercise (MSE)
According to a new study in the American Journal of Preventive Medicine, almost 75 percent of US adults do not comply with public health guidelines recommending two or more muscle-strengthening exercise (MSE) sessions a week, with nearly 60 percent of the population doing no MSE at all.
The Lancet Public Health: Moderate carbohydrate intake may be best for health
Low-carb diets that replace carbohydrates with proteins and fats from plant sources associated with lower risk of mortality compared to those that replace carbohydrates with proteins and fat from animal sources.
More Public Health News and Public Health Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Erasing The Stigma
Many of us either cope with mental illness or know someone who does. But we still have a hard time talking about it. This hour, TED speakers explore ways to push past — and even erase — the stigma. Guests include musician and comedian Jordan Raskopoulos, neuroscientist and psychiatrist Thomas Insel, psychiatrist Dixon Chibanda, anxiety and depression researcher Olivia Remes, and entrepreneur Sangu Delle.
Now Playing: Science for the People

#537 Science Journalism, Hold the Hype
Everyone's seen a piece of science getting over-exaggerated in the media. Most people would be quick to blame journalists and big media for getting in wrong. In many cases, you'd be right. But there's other sources of hype in science journalism. and one of them can be found in the humble, and little-known press release. We're talking with Chris Chambers about doing science about science journalism, and where the hype creeps in. Related links: The association between exaggeration in health related science news and academic press releases: retrospective observational study Claims of causality in health news: a randomised trial This...