New York Genome Center/23andMe Collaboration Validates the Use of Genome-Wide Association Studies to Find Unexpected Connections between Diseases
Joint research by the New York Genome Center (NYGC) and 23andMe Inc. is helping scientists identify “multitasking” genes that influence a wide variety of human traits and conditions, providing a potential new tool for understanding how diseases interrelate.
Although researchers have long known certain genes are “multitaskers” that influence a wide variety of traits and conditions ranging from nose size to risk for Parkinson’s disease, methods and data to systematically identify such genes have been lacking. Lead author Joseph Pickrell, PhD, Core Member and Assistant Investigator at NYGC and an Adjunct Assistant Professor in the Department of Biological Sciences at Columbia University, said, “While genomic studies have been successful in identifying genetic variants that influence disease risk, it’s important to understand the impact of genetic variants across many diseases. For example, if a genetic variant decreases risk of schizophrenia but increases risk of Parkinson’s disease, drugs that target this gene may have unintended consequences.”
The research study, “Detection and interpretation of shared genetic inﬂuences on 42 human traits,” was published on May 16th in Nature Genetics. The researchers say their study validates the use of genome-wide association studies (GWAS) to find variants that influence many different traits or conditions and that may, in turn, help to identify shared causal relationships between diseases.
For the study, the researchers identified genetic variants influencing 42 traits or diseases, including anthropometric traits (such as nose size and male pattern baldness), immune traits (such as susceptibility to childhood ear infections and Crohn’s disease), metabolic phenotypes (type 2 diabetes and lipid levels), and neurological diseases (schizophrenia and Parkinson’s disease). For example, a genetic variant in the gene SLC39A8 was associated with both schizophrenia and Parkinson’s disease, while a variant in the APOE gene was associated with nearsightedness and Alzheimer’s disease.
The researchers found clusters of traits that tend to share genetic variants in common. The study showed that variants known to influence the timing of puberty also influence height, male pattern baldness and body mass index (BMI). Another cluster was found around metabolic conditions such as coronary artery disease, red blood cell traits and lipid levels. The researchers also noted clustering of immune conditions like asthma, allergies, Crohn’s disease, rheumatoid arthritis, and infectious diseases like childhood ear infections and tonsillitis.
“This study illustrates the value of collecting not just genotypic data but a wide variety of phenotypic data, something that 23andMe is uniquely able to do,” said co-author David Hinds, PhD, principal scientist, statistical genetics at 23andMe. “The ability to study this type of rich phenotypic and genotypic data at scale makes it possible to uncover unexpected insights.”
The study was supported by grants from two branches of the National Institutes of Health. 23andMe received a grant from the National Human Genome Research Institute. Dr. Pickrell at NYGC received a grant from the National Institute of Mental Health.
In addition to Dr. Pickrell, the authors included Tomaz Berisa and Jimmy Liu (NYGC); Laure Segurel of the National Center for Scientific Research, a public organization under the responsibility of the French Ministry of Education and Research; Joyce Y. Tung, director of research 23andMe, Inc.; and David Hinds, PhD, principal scientist, 23andMe, Inc.
Eva Chodosh, Senior Communications Associate
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