Citizen Scientists Look into Nearsightedness

Editor’s note: PloS Genetics just published Amy Kiefer and Nick Eriksson’s work. Check out their paper here. Nearsightedness, a condition in which far-away objects look blurry, is a problem of endemic proportions — approximately 30-40 percent of adults in the United States are nearsighted.  And, as computers and cellphones (which train our eyes to focus on short distances) play an ever-increasing role in our lives, we can only expect that this number will grow. One study in the United States highlights the rising rates of nearsightedness. These researchers found that in the early 1970’s, approximately 25 percent of Americans between the ages of 12 and 54 were nearsighted, but thirty years later that number had skyrocketed to 42 percent.

While it’s been clear that genetics play an important role in nearsightedness, until this month relatively little was known about which genes are involved. Two large studies on nearsightedness, however, have recently shed light on the subject. One of these studies was conducted by the 23andMe research team under the leadership of Amy Kiefer and Nick Eriksson.

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After analyzing genetic data and survey responses from over 45,000 23andMe members, we identified 22 genetic associations for nearsightedness in people with European ancestry, and we confirmed about half of these associations using data from a separate group of customers.

Adding even more support for these findings, many of our associations were confirmed by another large, independent nearsightedness study, which was accepted for publication shortly after our own study was.

One of the associations confirmed by this second study was near the gene LAMA2. LAMA2 encodes a protein important for the development of different eye structures. Our strongest association was with a genetic variant called rs12193446. We found that in individuals with European ancestry, the G version at this SNP was associated with lower risk of nearsightedness.  About 24 percent of people with European ancestry have this version of rs12193446. The other study also independently found that genetic variation near the LAMA2 gene was associated with nearsightedness.

You can find out more on our nearsightedness findings in our paper recently published in PLoS Genetics.

This research is another example of how you don’t have to wear a white jacket anymore to contribute to scientific findings. Over 50 thousand 23andMe members donated their time (by answering surveys) towards these nearsightedness findings, an act which was pretty farsighted of them.

Together we’re making a difference, one discovery at a time.

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