{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T11:49:43Z","timestamp":1763466583659,"version":"3.40.5"},"reference-count":35,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000923","name":"Australian Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phenotypic variation in human is the results of genetic variation and environmental influences. Understanding the contribution of genetic and environmental components to phenotypic variation is of great interest. The variance explained by genome\u2010wide single nucleotide polymorphisms (SNPs) typically represents a small proportion of the phenotypic variance for complex traits, which may be because the genome is only a part of the whole biological process to shape the phenotypes. In this study, we propose to partition the phenotypic variance of three anthropometric traits, using gene expression levels and environmental variables from GTEx data. We use the gene expression of four tissues that are deemed relevant for the anthropometric traits (two adipose tissues, skeletal muscle tissue and blood tissue). Additionally, we estimate the transcriptome\u2013environment correlation that partly underlies the phenotypes of the anthropometric traits. We found that genetic factors play a significant role in determining body mass index (BMI), with the proportion of phenotypic variance explained by gene expression levels of visceral adipose tissue being 0.68 (SE\u2009=\u20090.06). However, we also observed that environmental factors such as age, sex, ancestry, smoking status, and drinking alcohol status have a small but significant impact (0.005, SE\u2009=\u20090.001). Interestingly, we found a significant negative correlation between the transcriptomic and environmental effects on BMI (transcriptome\u2013environment correlation\u2009=\u2009\u22120.54, SE\u2009=\u20090.14), suggesting an antagonistic relationship. This implies that individuals with lower genetic profiles may be more susceptible to the effects of environmental factors on BMI, while\u00a0those with higher genetic profiles may be less susceptible. We also show that the estimated transcriptomic variance varies across tissues, e.g., the gene expression levels of whole blood tissue and environmental variables explain a lower proportion of BMI phenotypic variance (0.16, SE\u2009=\u20090.05 and 0.04, SE\u2009=\u20090.004 respectively). We observed a significant positive correlation between transcriptomic and environmental effects (1.21, SE\u2009=\u20090.23) for this tissue. In conclusion, phenotypic variance partitioning can be done using gene expression and environmental data even with a small sample size (<jats:italic>n<\/jats:italic>\u2009=\u2009838 from GTEx data), which can provide insights into how the transcriptomic and environmental effects contribute to the phenotypes of the anthropometric traits.<\/jats:p>","DOI":"10.1002\/gepi.22531","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T12:05:47Z","timestamp":1686830747000},"page":"465-474","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7625-8345","authenticated-orcid":false,"given":"Pastor","family":"Jullian Fabres","sequence":"first","affiliation":[{"name":"Australian Centre for Precision Health University of South Australia Adelaide South Australia Australia"},{"name":"UniSA Allied Health and Human Performance University of South Australia  Adelaide South Australia Australia"},{"name":"South Australian Health and Medical Research Institute (SAHMRI) University of South Australia  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9701-2718","authenticated-orcid":false,"given":"S. Hong","family":"Lee","sequence":"additional","affiliation":[{"name":"Australian Centre for Precision Health University of South Australia Adelaide South Australia Australia"},{"name":"UniSA Allied Health and Human Performance University of South Australia  Adelaide South Australia Australia"},{"name":"South Australian Health and Medical Research Institute (SAHMRI) University of South Australia  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaz1776"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature24277"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8"},{"issue":"03","key":"e_1_2_9_5_1","first-page":"325","article-title":"Effect of smoking on body mass index: A community\u2010based study","volume":"2","author":"Chhabra 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