Hereditary diseases in endogamous populations

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Hereditary diseases in endogamous populations are a phenomenon in population genetics . They occur in populations with a relatively small effective size that, due to various circumstances, mix little to no mixing with other populations, and are a form of inbreeding depression . The phenomenon can affect any smaller genetically isolated population, but is particularly important in certain ethnically , geographically , culturally or religiously demarcated groups of people, in whom above-average endogamy is common.

Genetic background

Endogamy in smaller populations inevitably leads to an increase in the average inbreeding coefficient . This increases the likelihood that two identical alleles are located at one gene locus ( homozygosity ). Since most hereditary diseases are inherited recessively, i.e. sick people must be homozygous for the disease, the increase in the inbreeding coefficient leads to a more frequent occurrence of hereditary diseases than would be the case in a non-endogamous population.

The affected hereditary diseases differ depending on the population and are related to the individual allele frequency in the respective population, which is historically caused by the founder effect . While most of the hereditary diseases that occur more frequently in endogamous populations can also occur in the general population, there are also inherited diseases that only occur within a certain endogamous population. Such hereditary diseases can be traced back to a mutation that occurred only after the population began to be genetically isolated.

If an endogamous population is exposed to high selection pressure and a hereditary disease has serious consequences, purging can in some cases eliminate the responsible alleles from the population over time by means of greater selection. However, this effect can be weakened by specifically human modes of reproduction within such populations.

Reasons for endogamy

The reasons for the triggering endogamy are different: It can be geographically determined, for example if a population lives largely isolated on an island for a long time. Well-known examples of this are the Icelanders , the inhabitants of certain islands in Croatia , inhabitants of Martha's Vineyard , La Réunion , Tristan da Cunha , the Norfolk Island and Cape Verde . Geographically isolated populations can also occur in remote areas outside of islands and accordingly have a higher frequency of hereditary diseases. Examples of this exist in northern Sweden and Finland, Saudi Arabia , Lebanon , Israel , Poland , Switzerland , Italy , Pakistan , India , Iran , Tunisia , Brazil and the Netherlands , among others .

Another possibility for endogamy is religious reasons in members of religions with a limited number of followers, a negligibly small number of converts, and a taboo against marrying people who do not belong to the same religion. Such diseases are best researched among the Amish , Mennonites and Hutterites, as well as Ashkenazi and Sephardic Jews ; There are also indications of their existence among Mormons .

Finally, endogamy can also be culturally determined, for example within a language group with relatively few speakers and little mixing with surrounding language groups. Examples of such cultural groups with endogamous hereditary diseases are the Basques in France and Spain , a subgroup of the Turkish migrant population in the Netherlands, and the French-speaking Canadians in Quebec .

literature

Individual evidence

  1. ^ E. O'Brien, RA Kerber, LB Jorde, AR Rogers: Founder effect: assessment of variation in genetic contributions among founders. In: Human biology. Volume 66, Number 2, April 1994, pp. 185-204, ISSN  0018-7143 . PMID 8194843 .
  2. ^ AD Overall, M. Ahmad, RA Nichols: The effect of reproductive compensation on recessive disorders within consanguineous human populations. In: Heredity. Volume 88, Number 6, June 2002, pp. 474-479, ISSN  0018-067X . PMID 12180090 .
  3. ^ KB McKusick, SR Schach, JH Koeslag: Social mechanisms in the population genetics of Tay-Sachs and other lethal autosomal recessive diseases: a computer simulation model. In: American journal of medical genetics. Volume 36, Number 2, June 1990, pp. 178-182, ISSN  0148-7299 . doi : 10.1002 / ajmg.1320360211 . PMID 2368806 .
  4. ^ AL Price, A. Helgason, S. Palsson, H. Stefansson, D. St Clair, OA Andreassen, D. Reich, A. Kong, K. Stefansson: The impact of divergence time on the nature of population structure: an example from Iceland. In: PLoS genetics. Volume 5, Number 6, June 2009, p. E1000505, ISSN  1553-7404 . doi : 10.1371 / journal.pgen.1000505 . PMID 19503599 . PMC 2684636 (free full text).
  5. ↑ A. Helgason, B. Yngvadóttir, B. Hrafnkelsson, J. Gulcher, K. Stefánsson: An Icelandic Example of the impact of population structure on association studies. In: Nature genetics. Volume 37, Number 1, January 2005, pp. 90-95, ISSN  1061-4036 . doi : 10.1038 / ng1492 . PMID 15608637 .
  6. ↑ V. Safti ?, D. Rudan, L. Zgaga: Mendelian diseases and conditions in Croatian Iceland populations: historic records and new insights. In: Croatian medical journal. Volume 47, Number 4, August 2006, pp. 543-552, ISSN  1332-8166 . PMID 16909451 . PMC 2080446 (free full text).
  7. ↑ Nora Ellen Groce: Everyone Here Spoke Sign Language: Hereditary Deafness on Martha's Vineyard. (1985) Cambridge, MA: Harvard University Press. ISBN 0-674-27041-X .
  8. ↑ a b c J. Zlotogora: Multiple mutations responsible for frequent genetic diseases in isolated populations. In: Eur J Hum Genet. (2007), Vol. 15, No. 3, pp. 272-278. PMID 17213840 . PDF .
  9. ↑ JS Jones: How different are human races? In: Nature (1981), Vol. 293, No. 5829, pp. 188-190. PMID 7278976 .
  10. ^ S. Eickhoff, P. Beighton: Genetic disorders on the island of St Helena. In: S Afr Med J. (1985), Vol. 68, No. 7, pp. 475-478. PMID 4049161 .
  11. ↑ C. Bellis, RM Hughes, KN ​​Begley, S. Quinlan, RA Lea, SC Heath, J. Blangero, LR Griffiths: Phenotypical characterization of the isolated norfolk island population focusing on epidemiological indicators of cardiovascular disease. In: Hum Hered. (2005), Vol. 60, No. 4, pp. 211-219. PMID 16391489 . PDF .
  12. ↑ S. Beleza, J. Campos, J. Lopes, II Araújo, A. Hoppfer Almada, A. Correia e Silva, EJ Parra, J. Rocha: The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies. In: PloS one. Volume 7, number 11, 2012, p. E51103, ISSN  1932-6203 . doi : 10.1371 / journal.pone.0051103 . PMID 23226471 . PMC 3511383 (free full text).
  13. ↑ K. Kristiansson, J. Naukkarinen, L. Peltonen: Isolated populations and complex disease gene identification. In: Genome Biol. (2008), Volume 9, No. 8, p. 109. doi : 10.1186 / gb-2008-9-8-109 . PMID 18771588 ; PMC 2575505 (free full text).
  14. ↑ AD Overall: The influence of the Wahlund effect on the consanguinity hypothesis: consequences for recessive disease incidence in a socially structured Pakistani population. In: Hum Hered. (2009), Volume 67, No. 2, pp. 140-144. doi : 10.1159 / 000179561 . PMID 19077430 .
  15. ↑ TJ Pemberton, FY Li, EK Hanson, NU Mehta, S. Choi, J. Ballantyne, JW Belmont, NA Rosenberg, C. Tyler-Smith, PI Patel: Impact of restricted marital practices on genetic variation in an endogamous Gujarati group. In: Am J Phys Anthropol. (2012), Volume 149, No. 1, pp. 92-103. doi : 10.1002 / ajpa.22101 . PMID 22729696 ; PMC 3436606 (free full text).
  16. ↑ NM Ghiasvand, E. Shirzad, M. Naghavi, MR Vaez Mahdavi: High incidence of autosomal recessive congenital retinal nonsyndromal nonattachment (ncRNA) in at Iranian founding population. In: American journal of medical genetics. Volume 78, Number 3, July 1998, pp. 226-232, ISSN  0148-7299 . PMID 9677055 .
  17. ↑ N. Ben Halim, N. Ben Alaya Bouafif, L. Romdhane, R. Kefi Ben Atig, I. Chouchane, Y. Bouyacoub, I. Arfa, W. Cherif, S. Nouira, F. Talmoudi, K. Lasram, S. Hsouna, W. Ghazouani, H. Azaiez, L. El Matri, A. Abid, N. Tebib, MF Ben Dridi, S. Kachboura, A. Amouri, M. Mokni, S. Ben Arab, K. Dellagi, S. Abdelhak: Consanguinity, endogamy, and genetic disorders in Tunisia. In: J Community Genet. (2013), Volume 4, No. 2, pp. 273-284. doi : 10.1007 / s12687-012-0128-7 . PMID 23208456 ; PMC 3666836 (free full text).
  18. ↑ KB Gomes, VC Pardini, AC Ferreira, CG Fonseca, AP Fernandes: Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. In: Ann Hum Genet. (2007), Volume 71, Part 6, pp. 729-734. PMID 17535271 .
  19. ↑ K. Sleegers, G. Roks, J. Theuns, YS Aulchenko, R. Rademakers, M. Cruts, WA van Gool, C. Van Broeckhoven, P. Heutink, BA Oostra, JC van Swieten, CM van Duijn: Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. In: Brain (2004), Volume 127, Part 7, pp. 1641-1649. PMID 15130954 (free full text access ).
  20. ↑ M. Payne, CA Rupar, GM Siu, VM Siu: Amish, mennonite, and hutterite genetic disorder database. In: Pediatrics & child health. Volume 16, number 3, March 2011, pp. E23 – e24, ISSN  1918-1485 . PMID 22379385 . PMC 3077314 (free full text).
  21. ^ NC Orton, AM Innes, AE Chudley, NT Bech-Hansen: Unique disease heritage of the Dutch-German Mennonite population. In: American journal of medical genetics. Part A. Volume 146A, Number 8, April 2008, pp. 1072-1087, ISSN  1552-4833 . doi : 10.1002 / ajmg.a.32061 . PMID 18348259 . (Review).
  22. ^ H. Ostrer, K. Skorecki: The population genetics of the Jewish people. In: Human genetics. Volume 132, Number 2, February 2013, pp. 119-127, ISSN  1432-1203 . doi : 10.1007 / s00439-012-1235-6 . PMID 23052947 . PMC 3543766 (free full text). (Review).
  23. ↑ Genetics in Utah ( Memento of the original from September 7, 2013 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. from the University of Utah website , accessed September 9, 2013  @1@ 2Template: Webachiv / IABot / learn.genetics.utah.edu
  24. ↑ F. Bauduer: [History of biological anthropology of the Basque population: empiricism with molecular genetics]. In: Histoire des sciences médicales. Volume 42, Number 2, 2008 Apr-Jun, pp. 123-130, ISSN  0440-8888 . PMID 19230313 .
  25. ↑ AM Laberge: [Prevalence and distribution of genetic diseases in Quebec: impact of the past on the present]. In: Médecine sciences: M / S. Volume 23, Number 11, November 2007, pp. 997-1001, ISSN  0767-0974 . doi : 10.1051 / medsci / 20072311997 . PMID 18021714 .