Detection and interpretation of shared genetic influences on 42 human traits
Open accessAbstract
We performed a scan for genetic variants associated with multiple phenotypes by comparing large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 loci (at a false discovery rate of 10%) associated with multiple traits. Several loci are associated with multiple phenotypes; for example, a nonsynonymous variant in the zinc transporter SLC39A8 influences seven of the traits, including risk of schizophrenia (rs13107325: log-transformed odds ratio (log OR) = 0.15, P = 2 × 10(-12)) and Parkinson disease (log OR = -0.15, P = 1.6 × 10(-7)), among others. Second, we used these loci to identify traits that have multiple genetic causes in common. For example, variants associated with increased risk of schizophrenia also tended to be associated with increased risk of inflammatory bowel disease. Finally, we developed a method to identify pairs of traits that show evidence of a causal relationship. For example, we show evidence that increased body mass index causally increases triglyceride levels.
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Two of the ear loci, including 2q12.3 EDAR and 6q21 ATG5, were previously associated with mono eyebrow.
“and two of our ear loci, including 2q12.3 EDAR and 6q21 ATG5, were previously associated with mono eyebrow [21] (S7 Table).”
From Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci (2023) · cites this paper as [21]
The Results section describes GWAS traits including childhood ear infections, but the passages found do not address ear morphology or mono eyebrow. Searches for EDAR, ATG5, eyebrow, and the stated chromosomal locations found no passage linking either locus to mono eyebrow; page numbers were not available in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measuredC10orf11 (LRMDA) has been associated with craniofacial traits such as adolescent idiopathic scoliosis, heel bone mineral density, and chin shape.
“This gene has been associated with craniofacial traits such as adolescent idiopathic scoliosis [40], heel bone mineral density [41], and chin shape [21].”
From Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci (2023) · cites this paper as [21]
The citation [21] is attached specifically to chin shape. The Results section mentions nose size among the traits studied, but the passages found for C10orf11, LRMDA, and chin shape report no association between that gene and chin shape. The other traits in the citing sentence have separate citations. (LLM, conf=0.76)
Experimental — accuracy not yet measuredA significant portion of the 16 ear-related loci have been shown to have strong ties to human facial structure.
“A significant portion of the 16 ear-related loci discussed here have been shown to have strong ties to human facial structure [8,15,21,22,30].”
From Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci (2023) · cites this paper as [21]
The ‘Individual loci that influence many traits’ section discusses shared genetic associations, but the passages found do not identify 16 ear-related loci or link them to facial structure. Searches for ear-related loci, ear morphology, and facial shape found no passage addressing that claim in our copy. (LLM, conf=0.75)
Experimental — accuracy not yet measuredA considerable number of the 16 ear-related loci were previously linked to male pattern baldness, and two loci were linked to mono-eyebrow.
“Additionally, a considerable number of the 16 ear-related loci were also previously linked to male pattern baldness, and two loci were linked to mono-eyebrow [21].”
From Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci (2023) · cites this paper as [21]
The Discussion and the section on genetically correlated phenotypes discuss male-pattern baldness, but neither links it to ear-related loci. Searches for 16 ear-related loci and mono-eyebrow found no passage addressing those associations or the claimed counts. (LLM, conf=0.76)
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References 88 · Cited by 1,151
- Authors
- Pickrell, J. K., Berisa, T., Liu, J. Z., Ségurel, L., Tung, J. Y., & Hinds, D. A.
- Affiliations
- New York Genome Center (US)
- Centre National de la Recherche Scientifique (FR)
- 23andMe (United States) (US)
- Corresponding author
- Pickrell, Joseph K
- Venue
- Nature Genetics
- Published
- 2016-05-16
- Volume
- 48
- Issue
- 7
- Pages
- 709-717
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5207801
- OpenAlex
- W2401811918
- Cited by
- 1,151
- References
- 88
- Citations by year
- 2026: 50 · 2025: 90 · 2024: 94 · 2023: 107 · 2022: 118 · 2021: 126 · 2020: 148 · 2019: 162 · 2018: 151 · 2017: 83 · 2016: 22
- FWCI
- 112.56
- Type
- journal article
- Language
- en
- Update notices
- erratum (2016-09-28)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- Funders
- Wellcome Trust (082604/2/07/Z, 082604)
- National Institutes of Health (n01ag12100-57-0-2, 5r44hg006981-03)
- National Institute on Aging (N01-AG012100, U01AG016976, U01AG032984, R01AG033193, U24AG021886)
- National Heart, Lung, and Blood Institute (R01HL105756)
- National Institute of Mental Health (R01MH106842)
- National Human Genome Research Institute (R44-HG006981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- polygenic traits, genetic overlap, pleiotropy, genetic loci, SLC39A8, zinc transporters, schizophrenia, Parkinson's disease, inflammatory bowel disease, body mass index, triglycerides, genome-wide association study
- MeSH terms
- Humans, Parkinson Disease, Phenotype, Schizophrenia, Triglycerides, Inflammatory Bowel Diseases, Body Mass Index, Genetic Predisposition to Disease, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Pleiotropy
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