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Osteoarthritis
Published in Nicole M. Farmer, Andres Victor Ardisson Korat, Cooking for Health and Disease Prevention, 2022
The epidemiology of OA is related to an array of person-level and disease-level factors. Person-level factors related to OA are age, obesity status, and race/ethnicity, and systemic risk factors such as hyperlipidemia or metabolic syndrome. In contrast, disease-level factors are related to disease phenotype, as well as joint or localized risk factors such as prior injury or leg muscle weakness. Overall, in the U.S., it is estimated that about 14 million Americans have symptomatic OA, with about half having advanced disease. More than half of these cases present in individuals who are less than 65 years of age (Deshpande et al., 2016). Thus, many of these patients with symptomatic OA will foreseeably deal with decades of treatment and management requirements. The rising prevalence of obesity plays a significant role in the prevalence of OA, especially with respect to certain disease phenotypes (Deveza et al., 2017). Worldwide estimates for prevalence of OA vary by country and region. For instance, prevalence among adults in India is 28.7% (Prakash et al., 2016), 16.9% in Iran (Davatchi et al., 2016), and 64.9% in South Korea (Lee and Kim, 2017).
Mycobacterium tuberculosis
Published in Lloyd N. Friedman, Martin Dedicoat, Peter D. O. Davies, Clinical Tuberculosis, 2020
Phenotypes are characteristics of an organism that result from a genotype and its environment. For bacteria, common phenotypes refer to characteristics such as virulence, drug-resistance, and dye-staining properties or colony morphologies. Molecular Koch's postulate was a concept first proposed by Stanley Falkow for establishing causality of a phenotype.11 A paraphrased version of Koch's postulate would be: To prove that a phenotype such as drug resistance of an organism is caused by a specific genotype, it was necessary to: (1) isolate a mutant exhibiting drug resistance, (2) clone the genotype from the drug-resistant mutant, and (3) transfer the cloned genotype to a parental strain and demonstrate the acquisition of drug resistance. This is the essence of genetics.
An Approach to Inherited Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
In humans the 22 pairs of chromosomes which are not X or Y chromosomes are called the autosomes. Genes on these chromosomes occur with equal frequency in males and females. Mendel's first law states that alleles segregate; an offspring inherits one and only one of the pair in one parent. An offspring is equally likely to inherit one or the other gene of each pair. When a phenotype is produced by a gene in a single dose, that is, in a heterozygote, the phenotype is said to be dominant. When a mating occurs between an individual who is heterozygous and has the dominant phenotype, and an individual who does not have the phenotype, each of the offspring is equally likely to inherit from the first parent either the gene for dominant phenotype or the other gene. The distinctive feature of pedigrees illustrating this mode of inheritance is the occurrence of the phenotype in successive generations. If the phenotype is expressed whenever the responsible gene is present, the phenotype is said to be fully penetrant. In pedigrees of fully penetrant dominant phenotypes, individuals who do not show the phenotype do not pass it on to their descendants (Fig. la).
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
Identification of candidate variants was performed using an inheritance-based filtering approach. This strategy filters variants according to genotype requirements that meet an autosomal dominant, recessive or compound heterozygous inheritance pattern in this family. More specifically, in an autosomal dominant model, patients and obligate carriers must be heterozygous and unrelated spouses must be homozygous reference. In a recessive model, both patients must be homozygous alternative and their parents should be heterozygous. Other family members cannot be homozygous alternative. In a compound heterozygous inheritance, the phenotype is caused by two heterozygous recessive alleles at different loci in a particular gene and variants were filtered accordingly. In addition, exonic and non-exonic variants were compared respectively to the databases ExAC (non-Finnish European subset, ExAC-NFE)13 and 1000 Genomes (European subset, 1000G-EUR)14 for their absence or rarity in the general population (allele frequency (AF) ≤ 0.01).
Overview of gene expression techniques with an emphasis on vitamin D related studies
Published in Current Medical Research and Opinion, 2023
Jeffrey Justin Margret, Sushil K. Jain
During cell development, certain sets of genes express proteins that allow them to communicate with neighboring cells to coordinate development in multicellular organisms. All living organisms make use of this process, known as gene expression, to create the building blocks of life from genetic information1. The exceedingly complex process of gene expression enables cells to control their size, shape, and functions as it involves the interactions among DNA, RNA, and proteins, as well as with the environment. The phenotype of an organism is determined by how its genes are expressed2 and regulated at many levels. The protein expressed determines the function of the cell, and each cell type has a unique gene expression profile. Thus, gene expression profiling is a fundamental tool with which to investigate changes in the expression at a cellular level, thus unraveling the complexity of biological systems and the effects of mutations that result in disease states or pathobiology.