Kaiser Permanente Participates Pathbreaking Study to Better Understand Genetics of Near Sightedness

Kaiser Permanente Participates Pathbreaking Study to Better Understand Genetics of Near Sightedness

Kaiser Permanente investigators are looking into the underlying genetic factors behind near-sightedness or myopia. The team has closed in on the specific genes contributing to myopia risk. In a study led by Kings College London, a U.S and UK-based team leveraged de-identified genetic data from not only Kaiser Permanente Northern California’s Genetic Epidemiology Research on Adult Health and Aging project (Kaiser Permanente Bank) but also 23andMe and UKBiobank. The study was published March 30 in Nature Genetics.

Kaiser Participants

Kaiser study coauthors included Eric Jorgenson, PhD, Division of Research Investigator, Helene Chouquet, staff scientist, and Ronald Melles, MD, Kaiser Permanente Redwood City ophthalmologist. All three recently discussed the study which was published in Kaiser Permanente’s Spotlight.

The Problem: Myopia

Myopia, or near-sightedness, is one of the most common conditions in the world. The World Health organization ranks myopia as the second most important source of disability worldwide. There is a substantial lifetime cost for individuals who require vision correction, such as glasses, contact lens, or surgery. Moreover those with myopia are at greater risk of vision disorders such as cataracts, glaucoma and retinal detachment. 

Research Mission

The researchers set out to better understand the genetic contributors of myopia to better identify new avenues for treatment and prevention. And perhaps someday the ability to reduce myopia the research could also open new ways to delay the onset of other vision disorders.

Research Findings

The study included over 500,000 individuals of European ancestry, pinpointed more than 300 regions or loci, (specific, fixed position on a chromosome where a particular gene or genetic marker is located) across the genome that were strongly associated with refractive effort and myopia risk. These loci, which previously were not linked to the vision disorder, actually successfully predicted myopia in up to75% of the participants involved in the study reported Helene Chouquet. And as it turns out, the genes within the loci that contribute to myopia risk are active contributors to growth, development and pigmentation of the eye, and maintenance of the circadian rhythm. Ultimately, this study generated more intelligence for investigators to start better understanding the underlying molecular mechanisms of this pervasive disability.

The Largest Genetic Study of Myopia

A collaborative effort with UK investigators this was the largest genetic study of myopia. Due to the large amount of data, they were able to discover more myopia risk factors than any previous study.

The Kaiser Permanente GERA Cohort

The Kaiser Permanente GERA cohort includes over 100,000 members—most of these people have refractive error information (e.g. spectacle or contact lens prescriptions) recorded in the Kaiser electronic medical record. The large American health system (e.g. provider network and payer) offered the study a trove of data that was used along with 23andMe and UKBiobank to identify hundreds of locations in the genome associated with myopia.

What is GERA?

The Resource for Genetic Epidemiology Research on Aging (GERA) Cohort was created by a RC2 “Grand Opportunity” grant that was awarded to the Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) and the UCSF Institute of Human Genetics (AG036607; Schaefer/Risch, PIs). The RC2 project enabled a genome-wide SNP genotyping (GWAS) to be conducted with a cohort with over 100,000 adults who are members of the Kaiser Permanente Medical Care Plan, Northern California Region (KPNC), and participants in its RPGEH. The purpose of the RPGEH is to facilitate research on the genetic and environmental factors that affect health and disease by linking together clinical data from electronic health records, survey data on demographic and behavioral factors, and environmental data from various sources, with genetic data from biospecimens collected from participants.

Lead Research/Investigators

Eric Jorgenson, PhD, Division of Research Investigator

Helene Chouquet, staff scientist

Ronald Melles, MD, Kaiser Permanente Redwood City ophthalmologist.

Call to Action: The researchers hope to look into related areas, such as how the data can help them better understand genetic risk factors for myopia and how they contribute to the risk of glaucoma and other disorders. They are currently investigating the genetic risk factors for cataracts and they seek to understand if there is an overlap in genetic risk factors for myopia and cataracts. If you have research that dovetails with this Kaiser effort, why not connect?