In this paper, we explain the concept of heritability and describe the different methods and the genotype-phenotype correspondences used to estimate heritability in the specific field of human genetics. Heritability studies are conducted on extremely diverse human traits: quantitative traits (physical, biological, but also cognitive and behavioral measurements) and binary traits (as is the case of most human diseases). Instead of variables such as education and socio-economic status as covariates in genetic studies, they are now the direct object of genetic analysis. We make a review of the different assumptions underlying heritability estimates and dispute the validity of most of them. Moreover, and maybe more importantly, we show that they are very often misinterpreted. These erroneous interpretations lead to a vision of a genetic determinism of human traits. This vision is currently being widely disseminated not only by the mass media and the mainstream press, but also by the scientific press. We caution against the dangerous implication it has both medically and socially. Contrarily to the field of animal and plant genetics for which the polygenic model and the concept of heritability revolutionized selection methods, we explain why it does not provide answer in human genetics.
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http://dx.doi.org/10.1007/s10709-022-00149-7 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom.
A value is conventionally interpreted either as a) the probability by chance of obtaining more extreme results than those observed or b) a tool for declaring significance at a prespecified level. Both approaches carry difficulties: b) does not allow users to make inferences based on the data in hand, and is not rigorously followed by researchers in practice, while (a) is not meaningful as an error rate. Although values retain an important role, these shortcomings are likely to have contributed significantly to the scientific reproducibility crisis.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
January 2025
Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China.
Purpose: Dry eye disease (DED) is a common ocular surface inflammatory disease with a complex pathogenesis. Herein, the role and effect of gasdermin E (GSDME) in DED pathogenesis were explored.
Methods: In vitro, flow cytometry, Cell Counting Kit-8 (CCK-8) and lactate dehydrogenase (LDH) release assays were used to determine the effects of hyperosmotic stress on pyroptosis, apoptosis, and cell viability in human corneal epithelial cells (HCECs).
Invest Ophthalmol Vis Sci
January 2025
UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Purpose: The purpose of this study was to analyze the retinal sensitivity under photopic, mesopic, and scotopic conditions in a cohort of patients affected with KCNV2-associated retinopathy.
Methods: Cross-sectional evaluation of molecularly confirmed individuals was conducted. Data were obtained prospectively.
J Chem Inf Model
January 2025
Cancer Innovation Laboratory, National Cancer Institute, Frederick, Maryland 21702, United States.
mTOR plays a crucial role in PI3K/AKT/mTOR signaling. We hypothesized that mTOR activation mechanisms driving oncogenesis can advise effective therapeutic designs. To test this, we combined cancer genomic analysis with extensive molecular dynamics simulations of mTOR oncogenic variants.
View Article and Find Full Text PDFJ Med Microbiol
January 2025
Field Service - South East and London, UK Health Security Agency, London, UK.
Shiga toxin-producing (STEC) infections are of public health concern as STEC can cause large national foodborne outbreaks of severe gastrointestinal disease, particularly in the young and elderly. In recent years, the implementation of PCR by diagnostic microbiology laboratories has improved the detection of STEC, and there has been an increase in notifications of cases of non-O157 STEC. However, the extent this increase in caseload can be attributed to the improved detection by PCR, or a true increase in non-O157 STEC infections, is unknown.
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