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The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous.
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics.
Anthropometry refers to the measurement of the human individual. An early tool of physical anthropology, it has been used for identification, for the purposes of understanding human physical variation, in paleoanthropology and in various attempts to correlate physical with racial and psychological traits. Anthropometry involves the systematic measurement of the physical properties of the human body, primarily dimensional descriptors of body size and shape. Since commonly used methods and approaches in analysing living standards were not helpful enough, the anthropometric history became very useful for historians in answering questions that interested them.
A quantitative trait locus (QTL) is a locus that correlates with variation of a quantitative trait in the phenotype of a population of organisms. QTLs are mapped by identifying which molecular markers correlate with an observed trait. This is often an early step in identifying the actual genes that cause the trait variation.
Human height or stature is the distance from the bottom of the feet to the top of the head in a human body, standing erect. It is measured using a stadiometer, in centimetres when using the metric system or SI system, or feet and inches when using United States customary units or the imperial system.
Auxology is a meta-term covering the study of all aspects of human physical growth. Auxology is a multi-disciplinary science involving health sciences/medicine, and to a lesser extent: nutrition science, genetics, anthropology, anthropometry, ergonomics, history, economic history, economics, socio-economics, sociology, public health, and psychology, among others.
Darwin's tubercle is a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds.
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called short. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and sex, which corresponds to the shortest 2.3% of individuals in that population.
DNAPrint Genomics was a genetics company with a wide range of products related to genetic profiling. They were the first company to introduce forensic and consumer genomics products, which were developed immediately upon the publication of the first complete draft of the human genome in the early 2000s. They researched, developed, and marketed the first ever consumer genomics product, based on "Ancestry Informative Markers" which they used to correctly identify the BioGeographical Ancestry (BGA) of a human based on a sample of their DNA. They also researched, developed and marketed the first ever forensic genomics product - DNAWITNESS - which was used to create a physical profile of donors of crime scene DNA. The company reached a peak of roughly $3M/year revenues but ceased operations in February 2009.
Trudy Frances Charlene Mackay is the director of Clemson University's Center for Human Genetics located on the campus of the Greenwood Genetic Center. She is recognized as one of the world's leading authorities on the genetics of complex traits. Mackay is also the Self Family Chair in Human Genetics and Professor of Genetics and Biochemistry at Clemson University.
Behavioural genetics, also referred to as behaviour genetics, is a field of scientific research that uses genetic methods to investigate the nature and origins of individual differences in behaviour. While the name "behavioural genetics" connotes a focus on genetic influences, the field broadly investigates the extent to which genetic and environmental factors influence individual differences, and the development of research designs that can remove the confounding of genes and environment. Behavioural genetics was founded as a scientific discipline by Francis Galton in the late 19th century, only to be discredited through association with eugenics movements before and during World War II. In the latter half of the 20th century, the field saw renewed prominence with research on inheritance of behaviour and mental illness in humans, as well as research on genetically informative model organisms through selective breeding and crosses. In the late 20th and early 21st centuries, technological advances in molecular genetics made it possible to measure and modify the genome directly. This led to major advances in model organism research and in human studies, leading to new scientific discoveries.
Somatotype is a theory proposed in the 1940s by the American psychologist William Herbert Sheldon to categorize the human physique according to the relative contribution of three fundamental elements which he termed somatotypes, classified by him as ectomorphic, mesomorphic, and endomorphic. He created these terms borrowing from the three germ layers of embryonic development: The endoderm, the mesoderm and the ectoderm. Later variations of these categories, developed by his original research assistant Barbara Heath, and later by Lindsay Carter and Rob Rempel, are used by academics today.
Anthropometric cosmetology is the medical practice to correct or modify deformities in the upper and lower extremities of the body. This is done in order to attain an aesthetically pleasing appearance or to eliminate physical and psychological discomforts.
Genome-wide complex trait analysis (GCTA) Genome-based restricted maximum likelihood (GREML) is a statistical method for heritability estimation in genetics, which quantifies the total additive contribution of a set of genetic variants to a trait. GCTA is typically applied to common single nucleotide polymorphisms (SNPs) on a genotyping array and thus termed "chip" or "SNP" heritability.
In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score or genetic risk score. The score reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. It gives an estimate of how likely an individual is to have a given trait based only on genetics, without taking environmental factors into account; and it is typically calculated as a weighted sum of trait-associated alleles.
Polygenic adaptation describes a process in which a population adapts through small changes in allele frequencies at hundreds or thousands of loci.
Joel Naom Hirschhorn is an American human geneticist, pediatrician, and endocrinologist. He is known for his research on the genetics of complex human traits, such as height.
Nicole Soranzo is an Italian-British senior group leader in human genetics at the Wellcome Sanger Institute, Professor of Human Genetics at the University of Cambridge. She is an internationally recognised Human Geneticist who has focused on the application of cutting edge genomic technologies to study the spectrum of human genetic variation associated with cardio-metabolic and immune diseases. She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio-metabolic diseases and their risk factors as well as establishing the HaemGen consortium, which is a worldwide effort to discover genetic determinants of blood cell formation and also interpretation of the downstream consequences of sequence variation through a host of integrative analyses and functional approaches.
Sonja Ingrid Berndt is an American pharmacologist and cancer epidemiologist who researches non-Hodgkin lymphoma, prostate cancer, and anthropometric traits that are cancer risk factors. She is a senior investigator in the occupational and environmental epidemiology branch at the National Cancer Institute.
Claudia Langenberg is a German epidemiologist and medical specialist who researches and works in the field of public health. She has been a professor of computational medicine at the Berlin Institute of Health (BIH) since 2020. Langenberg investigates the basics of metabolic diseases using large amounts of data from international patient and population studies.
References
- ↑ Park, Alice (2014-10-05). "New Genes Found that Determine Your Height". Time. Retrieved 2021-08-04.
- ↑ "Genetic Investigation of ANthropometric Traits". www.helmholtz-muenchen.de. Retrieved 2021-08-04.
