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Genetics and exercise: an introduction
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Claude Bouchard, Henning Wackerhage
Heritability is the fraction of the variation in a quantitative trait explained by variation due to genetic differences in a given population (i.e. VG/VP). To calculate heritability, human studies rely on various types of relatives by biological descent or by adoption. Commonly used study designs include twin studies, adoption studies and nuclear family studies.
Genetics
Published in Cathy Laver-Bradbury, Margaret J.J. Thompson, Christopher Gale, Christine M. Hooper, Child and Adolescent Mental Health, 2021
Bipolar disorder has a heritability of about 85% (McGuffin et al., 2003). To date, 30 common variants have been associated with bipolar risk (Stahl et al., 2019). These variants affect ion channels, neurotransmitter transporters, synaptic, metabolic and immune components. There are significant genetic correlations with schizophrenia, depression, traits of ASD and anorexia nervosa. Interestingly, cases with a bipolar I diagnosis have higher schizophrenia polygenic risk scores than cases with bipolar II. Bipolar II cases have higher depression polygenic risk scores than bipolar I cases. Fewer CNVs have been associated with bipolar disorder than with schizophrenia or neurodevelopmental disorders (Green et al., 2016), and increased CNV burden may be limited to schizoaffective cases (Charney et al., 2018). This may provide a biological basis for clinical subtypes of bipolar disorder.
Drugs of Abuse and Addiction
Published in Sahab Uddin, Rashid Mamunur, Advances in Neuropharmacology, 2020
Shalini Mani, Chahat Kubba, Aarushi Singh
Few studies suggest that genetic factors account for 50% of this individual variability in addiction vulnerability and this heritability is true for mostly all drugs (Kandel et al., 2006; Nestler, 2013). Hundreds of genetic variations have been a great setback in recognizing the exact genes involved in these addicition vulnerabilities. The other 50% of addiction is presumed to be from environmental factors which secondarily influence on the genetic composition of an individual (as per the epigenetic mechanisms discussed above) (Kalivas and O'Brien, 2008). Many of the “gateway” drugs like nicotine have been considered to impact upon the vulnerability (increase) of an individual to another drug. There is also increasing evidence that sufficiently high portions of a drug for longer time can transform an individual with lower genetic loading into an addict (Wang et al., 2012; Kandel et al., 2006; Kalivas and O'Brien, 2008).
Discovery of potential biomarkers for osteoporosis diagnosis by individual omics and multi-omics technologies
Published in Expert Review of Molecular Diagnostics, 2023
BMD is affected by genetic factors, and the heritability is estimated to be between 0.50 and 0.85 [12]. Furthermore, as the endpoint of OP, osteoporotic fractures have a heritability of 0.50–0.70 [13]. Heritability refers to the proportion of phenotypic variation caused by single nucleotide polymorphism (SNP). So, heritability can be used to describe the degree of phenotypes affected by genetic factors [22]. As is known to all, phenotype is determined by the interaction between genetic and environmental factors, and bone phenotype is no exception [23]. OP-related phenotypes include fracture epidemiology, peak bone mass, bone loss, bone area, bone geometry, and drug response to treatment. However, genes and their functional products do not work alone but often interact through different signaling pathways and functional modules [24]. Similarly, the occurrence and development of OP are not only affected by a complex network formed by multiple genes, but also by environmental factors. Thus, multi-omics research on OP may be used for the discovery of novel diagnostic biomarkers. With the continuous development of high-throughput sequencing technologies, multi-omics research is also deepening [25]. Diseases can be analyzed at multiple levels of biological systems [26].
Whole genome sequencing and inheritance-based variant filtering as a tool for unraveling missing heritability in pediatric cancer
Published in Pediatric Hematology and Oncology, 2023
Charlotte Derpoorter, Ruben Van Paemel, Katrien Vandemeulebroecke, Jolien Vanhooren, Bram De Wilde, Geneviève Laureys, Tim Lammens
Part of the missing heritability in childhood cancer might reside in other variant categories, such as non-coding regions or epigenetic modifications, or in other cancer associated genes yet to be identified. Importantly, most research has been focused on high-penetrant lesions with large effect sizes and low population frequencies. Some variants have smaller or intermediate effect sizes, increasing the risk or susceptibility, without showing clear Mendelian segregation. Common variants within this category are typically covered by genome-wide association studies, but rare variants with intermediate or smaller effect sizes are not sufficiently captured. These variants could, individually or combined, have substantial effects and explain a large proportion of inherited cancer risk. Discovery of novel susceptibility genes provides improved diagnostic and prognostic information and enables early detection and modified treatment strategies. Screening and genetic counseling for patients and at-risk relatives becomes a possibility. Importantly, discovery of novel susceptibility genes might provide more insights into cancer biology and eventually lead to development of targeted therapies.3,10
Human height: a model common complex trait
Published in Annals of Human Biology, 2023
Mitchell Conery, Struan F. A. Grant
Apart from the ease of measurement, height is also a very useful model common complex trait due to its above-average heritability relative to other complex phenotypes (Polderman et al. 2015; Watanabe et al. 2019). Twin and family-based analyses estimate that between 30% and 90% of human height variation is determined by genetic factors, with most estimates towards the upper end of that range (Preece 1996; Silventoinen et al. 2000; Silventoinen et al. 2001; Macgregor et al. 2006; Perola et al. 2007). This proportion is lower at birth and rises during childhood reaching a peak post-puberty (Burk et al. 2006; Mook-Kanamori et al. 2012; van Soelen et al. 2013; Jelenkovic et al. 2016; Silventoinen et al. 2019). Since it has been well documented that environmental factors, such as childhood net nutrition and socioeconomic status (Tanner 1981; Silventoinen 2003; Deaton 2007; Perkins et al. 2016), have a strong effect on adult height, high heritability likely means that the effect sizes and/or the quantity of genetic variants that impact the phenotype must be higher for height than for the vast majority of other traits. Both possibilities would make it relatively easy to identify genetic factors influencing the trait.