As population exploded, more rare genes entered human genome

By Krishna Ramanujan

(Medical Xpress) -- As the Earth's human population has skyrocketed since the rise of agriculture some 10,000 years ago -- to 7 billion people from a few million -- so, too, has the number of rare genetic variants.

Since about 2,000 years ago (fewer than 100 generations), the human population has experienced an explosive growth after 8,000 years of moderate exponential growth.

This recent accelerated growth has created more and rare gene variants, which may play a role in boosting the risks of complex diseases in which genes play a role, say Cornell researchers in the May 11 issue of the .

The study found that when a large sample of 10,000 individuals was used in a model of human population growth, rare genetic variants were detected far more frequently than in previous studies. The new model also showed that the vast majority of these rare variants were due to mutations that arose in the past 2,500 years, coinciding with the explosive growth.

Previous models had used small samples with 62 or fewer individuals, or they did not account for the recent increased rate of population growth, and, therefore, they predicted lower numbers of rare genetic variants.

"It is expected that the number of rare alleles [variants of genes] would increase with population growth," said Alon Keinan, the Robert N. Noyce Assistant Professor in Life Science and Technology in the Department of Biological Statistics and , who co-authored the study with Andrew Clark, the Jacob Gould Schurman Professor of and Nancy and Peter Meinig Family Investigator.

"Our conclusions show just how huge of an effect recent explosive growth in humans could have in this regard," Keinan said, adding that the study also shows the importance of considering a very large sample in order to observe the rare variants in the population overall.

The research also has implications for models of genetic disease. Because many different genetic variants can contribute to complex diseases, more rare and new disease-related alleles can increase the risk of disease in different individuals, he said.

The study was funded by the National Institutes of Health and the Alfred P. Sloan Foundation.

More information: "Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants," by A. Keinan; A.G. Clark at Cornell University in Ithaca, NY. Science (2012).

Related Stories

Experts propose new unified genetic model for human disease

Sep 29, 2011

Based on a wide variety of genetic studies and analysis– from genome wide association studies looking for common variations in the DNA of many people with complex diseases to the sequencing of specific gene mutations ...

Rare gene variants linked to inflammatory bowel disease

Oct 10, 2011

(Medical Xpress) -- An international team of scientists, including researchers from Karolinska Institutet, have identified several rare gene variants that predispose to IBD (Inflammatory Bowel Disease). The study provides ...

Is short stature associated with a 'shortage' of genes?

Nov 23, 2011

New research sifts through the entire genome of thousands of human subjects to look for genetic variation associated with height. The results of the study, published by Cell Press in the December issue of the American Jo ...

Recommended for you

Refining the language for chromosomes

Apr 17, 2014

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Down's chromosome cause genome-wide disruption

Apr 16, 2014

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study published Wednesday that surprised its authors.

User comments

Adjust slider to filter visible comments by rank

Display comments: newest first

robert lindsay
not rated yet May 11, 2012
The article is misleading because it assumes that genetic variations have a negative contribution to our species. If that were true, then the theory of evolution is so much rubbish because at best we a devolved from a superior ancestor or perhaps simply created as is. So if you believe the Theory of Evolution then you must accept that some mutations or sets of mutations will have a positive effect on our species. How then will it be determined which ones are desirable or more complexly will eventually lead to genetic changes that are more desirable. As a hypothetical consider the discovery of a genetic mutation which greatly weakens physical strength but also confers resistance to radiation. Such a genetic mutation might have a significant advantage for military Space operations. Finally I believe a variation of genetic coding must be maintained to ensure species robustness and agility against catastrophic events.