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Family study

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Genetic epidemiological study of families

In genetic epidemiology, family studies are studies of whether a disease or trait "runs in a family". In other words, they are studies aimed at detecting the presence or absence of familial aggregation for the disease or trait, in which having a family history is associated with greater risk. The family research design can also be used to estimate penetrance for a given genotype, to conduct genetic association studies, and to study potential modifiers of an individual's genetic risk. If a family study shows that a trait is familial, this is a necessary, but not sufficient, criterion for it to be established as genetically influenced.

Types

There are three main types of family studies in genetics:

  1. Those aimed at measuring the extent of familial aggregation for a trait
    1. Familial aggregation is the practice of combing multiple data sets of different traits and/or characteristics in a family.
    2. Family history of disease is collected in case studies, which seeks if a certain disease of one family member increases the risk of that disease being passed down to others. This could be related to either genes or environmental factors.
  2. Linkage studies aimed at identifying specific genetic loci that have a moderate to large effect on risk
    1. Genetic linkage occurs when two genes on a DNA sequence on the same chromosome are inherited together.
    2. This can occur with sex linked genes with the X or Y chromosome. Although it is more common to be inherited from the X chromosome because the Y chromosome has less genes attached.
  3. Association studies aimed at detecting loci with relatively small effects on risk.
    1. Locus (loci plural) is the physical location and position of a gene or genetic marker on the chromosome.
    2. Chromosomes carry genetic information across all of it, each gene having its specific location and position. There are 40,000 to 100,000  protein coding genes across human chromosomes.

References

  1. Roy, Alec; Rylander, Gunnar; Sarchiapone, Marco (December 1997). "Genetics of Suicide.: Family Studies and Molecular Genetics". Annals of the New York Academy of Sciences. 836 (1 Neurobiology): 135–157. doi:10.1111/j.1749-6632.1997.tb52358.x. ISSN 0077-8923. PMID 9616797. S2CID 29415906.
  2. Hopper, John L.; Bishop, D. Timothy; Easton, Douglas F. (October 2005). "Population-based family studies in genetic epidemiology". Lancet. 366 (9494): 1397–1406. doi:10.1016/S0140-6736(05)67570-8. ISSN 1474-547X. PMID 16226618. S2CID 6434807.
  3. Nestadt, Gerald; Samuels, Jack; Riddle, Mark; Bienvenu, O. Joseph; Liang, Kung-Yee; LaBuda, Michele; Walkup, John; Grados, Marco; Hoehn-Saric, Rudolf (2000-04-01). "A Family Study of Obsessive-compulsive Disorder". Archives of General Psychiatry. 57 (4): 358–63. doi:10.1001/archpsyc.57.4.358. ISSN 0003-990X. PMID 10768697.
  4. "familial aggregation". TheFreeDictionary.com. Retrieved 2021-11-05.
  5. Matthews, Abigail G.; Finkelstein, Dianne M.; Betensky, Rebecca A. (2008-10-30). "Analysis of familial aggregation studies with complex ascertainment schemes". Statistics in Medicine. 27 (24): 5076–5092. doi:10.1002/sim.3327. ISSN 0277-6715. PMC 2562890. PMID 18618413.
  6. "linkage | Learn Science at Scitable". www.nature.com. Retrieved 2021-11-05.
  7. "3.10: Genetic Linkage". Biology LibreTexts. 2016-09-21. Retrieved 2021-11-05.
  8. "Family Studies in Genetics". Encyclopedia of Epidemiology. Thousand Oaks: SAGE Publications, Inc. 2008. doi:10.4135/9781412953948.n153. ISBN 9781412928168.
  9. "Locus". Genome.gov. Retrieved 2021-11-05.
  10. Ezkurdia, Iakes; Juan, David; Rodriguez, Jose Manuel; Frankish, Adam; Diekhans, Mark; Harrow, Jennifer; Vazquez, Jesus; Valencia, Alfonso; Tress, Michael L. (2014-11-15). "Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes". Human Molecular Genetics. 23 (22): 5866–5878. doi:10.1093/hmg/ddu309. ISSN 0964-6906. PMC 4204768. PMID 24939910.


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