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Your Environment. Your Health.

Teasing out Genetic and Environmental Roles in Diseases

Chirag J. Patel, Ph.D.
Harvard University
R00ES023504, R21ES025052

Using a large health insurance database, NIEHS grantees identified genetic and environmental contributions to hundreds of disease-related conditions, ranging from cardiovascular illness and neuromuscular diseases to skeletal conditions. According to the authors, the study went beyond the traditional one-disease-at-a-time approach and analyzed genetic and environmental contributions to hundreds of the most common conditions.

Researchers estimated the genetic and environmental contributions of 560 disease-related conditions from health insurance data that included 56,393 twin pairs and 724,513 sibling pairs among more than 44 million individuals. They assessed environmental factors by linking individuals to location-specific data on air quality, temperature, and socio-economic status. Nearly 40 percent of the conditions in the study had a genetic component, whereas 25 percent were driven at least in part by factors found in a shared living environment.

Four of five cognitive disorders had a genetic component, which demonstrated the greatest degree of heritability. Connective tissue diseases had the lowest degree of genetic influence. Of all disease categories, eye disorders carried the highest degree of environmental influence, with 27 of 42 diseases showing such an effect. This was followed by respiratory diseases, with 34 of 48 conditions showing an effect caused by sharing the same environment.

In total, 145 of 560 diseases were modestly influenced by socio-economic status derived by zip code, with morbid obesity being the most significantly linked to socio-economic status. Of the full range of disease-related conditions, 36 diseases were influenced, at least in part, by air quality, and 117 were affected by changes in temperature.

Citation: Lakhani CM, Tierney BT, Manrai AK, Yang J, Visscher PM, Patel CJ. 2019. Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes. Nat Genet 51(2):327–334.

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