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Genetic underpinnings of near-sightedness identified in new research

Kaiser Permanente researchers and data were key part of study published in Nature Genetics


Near-sightedness is both widespread and inherited. New research involving Kaiser Permanente researchers and genetic data reveals for the first time which specific genes contribute to myopia risk. The study, published March 30 in Nature Genetics, was led by researchers at King’s College London and included de-identified genetic data from the UK Biobank, 23andMe, and Kaiser Permanente Northern California’s Genetic Epidemiology Research on Adult Health and Aging project (now part of the Kaiser Permanente Research Bank).

Study coauthors included Kaiser Permanente Division of Research investigator Eric Jorgenson, PhD, staff scientist Helene Choquet, PhD, and Kaiser Permanente Redwood City ophthalmologist Ronald Melles, MD. The trio answered questions about this intriguing new study.

Kaiser Permanente Redwood City ophthalmologist Ronald Melles, MD

Q: What is the potential benefit of learning the genetic underpinnings of myopia?

Melles: Myopia, or near-sightedness, is one of the most common conditions in the world, ranked by the World Health Organization as the second most important source of disability worldwide. There is a substantial lifetime cost for individuals who require vision correction, including glasses, contact lens, or surgery. Individuals with myopia also have an increased risk of vision disorders such as cataracts, glaucoma, and retinal detachment. Understanding the genetic contributors to myopia could help us identify new avenues for treatment and prevention. It is possible that by reducing myopia these efforts may also delay the onset of other vision disorders.


Hélène Choquet, PhD, Division of Research staff scientist

Q: What are the main findings of this study?

Choquet: This study, which included more than half a million individuals of European ancestry, pinpointed more than 300 regions, or loci, across the genome that were strongly associated with refractive error and myopia risk. These loci, which had not previously been linked to this vision disorder, successfully predicted myopia in up to 75% of the participants tested. Also, we found that genes within these loci that contribute to myopia risk are also involved in growth, development and pigmentation of the eye, and maintenance of circadian rhythm. This study helps to better understand the molecular mechanisms underlying this leading cause of disability in the world.


Eric Jorgenson, PhD, research scientist, Division of Research

Q: How important was the data from the Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging (GERA) to the findings?

Jorgenson: This study was the result of a collaborative effort with researchers in the U.K. to bring together the largest number of study participants in any genetic study of myopia to date. As a result, we have discovered more genetic risk factors for myopia than any previous study. At Kaiser Permanente, over 100,000 members have participated in the GERA cohort, and most of those patients have refractive error information (such as spectacle or contact lens prescriptions) recorded in the Kaiser electronic medical record. By combining our findings with those from the U.K., we were able to identify hundreds of locations in the genome associated with myopia.

Q: How does this work fit into your body of genetics work with GERA?

Jorgenson: We have been conducting genetic studies of vision disorders in the GERA cohort for several years, including investigating the causes of age-related macular degeneration and glaucoma. Studying myopia is a natural extension of this work because individuals with myopic refractive error have an increased risk of other vision disorders and blindness. In fact, we previously published the results of the largest study ever conducted of refractive error and glaucoma (Shen et al. Ophthalmology. 2016). We found that individuals with myopia had a much higher risk of developing glaucoma later in life, and that the more myopic someone is, the greater their risk.

Color codes represent the significance for the genetic variant within that region that displays the strongest evidence for association.

Q: Does this study suggest any particular next research steps?

Jorgenson: The GERA cohort is diverse, so we have an opportunity to examine how the genetic variants identified in this project affect the risk of myopia in populations with higher risk, such as East Asians. This study could also help us better understand how genetic risk factors for myopia may affect the risk of glaucoma and other vision disorders. And many people who develop cataracts experience an early myopic shift. We are currently investigating genetic risk factors for cataracts, and we would like to understand whether there is overlap in genetic risk factors for myopia and cataracts.



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