The phenotypic legacy of admixture between modern humans and Neandertals

Author:

Simonti Corinne N.1,Vernot Benjamin2,Bastarache Lisa3,Bottinger Erwin4,Carrell David S.5,Chisholm Rex L.6,Crosslin David R.25,Hebbring Scott J.7,Jarvik Gail P.25,Kullo Iftikhar J.8,Li Rongling9,Pathak Jyotishman10,Ritchie Marylyn D.1112,Roden Dan M.131314,Verma Shefali S.11,Tromp Gerard1516,Prato Jeffrey D.3,Bush William S.17,Akey Joshua M.2,Denny Joshua C.1313,Capra John A.131819

Affiliation:

1. Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.

2. Department of Genome Sciences, University of Washington, Seattle, WA, USA.

3. Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.

4. Mount Sinai School of Medicine, New York, NY, USA.

5. Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.

6. Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

7. Center for Human Genetics, Marshfield Clinic, Marshfield, WI, USA.

8. Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.

9. Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

10. Division of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

11. Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

12. Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA.

13. Department of Medicine, Vanderbilt University, Nashville, TN, USA.

14. Department of Pharmacology, Vanderbilt University, Nashville, TN, USA.

15. Weis Center for Research, Geisinger Health System, Danville, PA, USA.

16. Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Health Science, Stellenbosch University, Tygerberg, South Africa.

17. Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.

18. Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.

19. Center for Quantitative Sciences, Vanderbilt University, Nashville, TN, USA.

Abstract

The legacy of human-Neandertal interbreeding Non-African humans are estimated to have inherited on average 1.5 to 4% of their genomes from Neandertals. However, how this genetic legacy affects human traits is unknown. Simonti et al. combined genotyping data with electronic health records. Individual Neandertal alleles were correlated with clinically relevant phenotypes in individuals of European descent. These archaic genetic variants were associated with medical conditions affecting the skin, the blood, and the risk of depression. Science , this issue p. 737

Funder

Johns Hopkins University

Group Health Cooperative and University of Washington, Seattle

Marshfield Clinic

Essentia Institute of Rural Health

Mayo Clinic

Northwestern University

Vanderbilt University

Coordinating Center of the eMERGE Network

Geisinger Clinic

Mount Sinai School of Medicine

PheWAS

NIH

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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