The contribution of natural selection to present-day susceptibility to chronic inflammatory and autoimmune disease

Brinkworth, Jessica F.; Barreiro, Luis B.

doi:10.1016/j.coi.2014.09.008

Cited by 81 publications

(85 citation statements)

References 153 publications

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“…However, there is increasing evidence to suggest that, following changes in environmental variables or human lifestyle, alleles that were previously adaptive can become “maladaptive” and associated with disease risk [12, 13, 29, 30, 105]. For example, according to the popular “thrifty genotype” hypothesis based on epidemiological data, the high prevalence of type 2 diabetes and obesity in modern societies results from the selection of alleles associated with efficient fat and carbohydrate storage during periods of famine in the past.…”

Section: Insight Into Rare and Common Diseases From Natural Selectionmentioning

confidence: 99%

“…Population genetics studies have provided strong support for the hygiene hypothesis, by showing that genetic variants associated with susceptibility to certain autoimmune, inflammatory, or allergic diseases, such as inflammatory bowel disease, celiac disease, type 1 diabetes, multiple sclerosis, and psoriasis, also display strong positive selection signals [29, 30, 106, 186–188]. For example, genes conferring susceptibility to inflammatory diseases have been shown to be enriched in positive selection signals, with the selected loci forming a highly interconnected protein–protein interaction network, suggesting that a shared molecular function was adaptive in the past but now affects susceptibility to various inflammatory diseases [187].…”

Section: Insight Into Rare and Common Diseases From Natural Selectionmentioning

confidence: 99%

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Understanding rare and common diseases in the context of human evolution

Quintana-Murci

2016

Genome Biol

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The wealth of available genetic information is allowing the reconstruction of human demographic and adaptive history. Demography and purifying selection affect the purge of rare, deleterious mutations from the human population, whereas positive and balancing selection can increase the frequency of advantageous variants, improving survival and reproduction in specific environmental conditions. In this review, I discuss how theoretical and empirical population genetics studies, using both modern and ancient DNA data, are a powerful tool for obtaining new insight into the genetic basis of severe disorders and complex disease phenotypes, rare and common, focusing particularly on infectious disease risk.

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Section: Insight Into Rare and Common Diseases From Natural Selectionmentioning

confidence: 99%

Section: Insight Into Rare and Common Diseases From Natural Selectionmentioning

confidence: 99%

Understanding rare and common diseases in the context of human evolution

Quintana-Murci

2016

Genome Biol

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“…[3,29,40]. Ainsi, certains allèles ayant conféré un avantage sélectif au cours de l'évolution de notre espèce s'avèrent être, aujourd'hui, des facteurs de risques.…”

Section: Adaptation Aux Pathogènes Et Risque De Dérèglement Du Systèmunclassified

Immunité innée et maladies chez l’homme

Deschamps

2016

Med Sci (Paris)

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> Les pressions de sélection exercées par les pathogènes ont participé à façonner la variabilité du génome humain au cours de notre évolution. Les approches de génétique évolutive et de génétique des populations permettent d'étudier la forme et l'intensité de ces forces évolutives. Ces études ont mis en évidence l'importance fonctionnelle de certains gènes, l'implication d'autres dans l'adaptation de l'homme à son environnement pathogénique, ainsi que le maintien d'allèles archaïques supposés avantageux pour notre espèce. Cependant, avec l'avènement de traitements préventifs et curatifs, la sélection exercée par les pathogènes s'est récemment relâchée et des allèles ayant conféré un avantage à nos ancêtres se révèlent parfois être impliqués dans des troubles du système immunitaire, comme l'auto-immunité et l'inflammation. < tante de sa taille efficace 1 , laissant libre cours à l'action de la dérive génétique, c'est-à-dire à la variation stochastique des fréquences alléliques au cours des générations. L'histoire démographique de l'espèce humaine inclut aussi de nombreux mélanges entre populations qui sont à l'origine d'une partie de la diversité génétique humaine. En effet, certaines populations migrantes se sont mêlées aux individus précédemment installés, augmentant la diversité génétique de la population receveuse. Cet échange a aussi pu se faire entre notre espèce et une autre suffisamment proche génétiquement pour qu'il y ait interfécondation. On parle alors de flux de gènes ou d'introgression. L'ensemble de cette diversité génétique a été également modelé par la sélection naturelle. Ce concept s'applique aux variations génétiques ayant un effet sur le phénotype et inclut l'adaptation génétique aux différents facteurs environnementaux. Ainsi, la fréquence des mutations ayant un effet fortement délétère sur l'organisme diminue rapidement jusqu'à ce que ces variants soient éliminés de la population par l'action de la sélection purificatrice 2 . Dans le cas d'une mutation défavorable mais non délétère, le variant peut persister à faible fré-quence dans la population. La sélection positive, ou d'autres formes 1 On définit l'effectif efficace de la population (ou taille efficace) comme l'effectif d'une population théorique idéale pour laquelle on aurait une fluctuation du polymorphisme équivalente à celle de la population naturelle. 2 La sélection naturelle peut prendre de nombreuses formes et agir avec des intensités différentes. Les séquences codantes sont principalement soumises à l'action de la sélection dite « négative » ou, dans sa forme la plus extrême, « purificatrice ». Cette sélection diminue la fréquence des mutations qui s'avèrent défavorables à leurs porteurs dans un environnement donné.Institut Pasteur, Unité de Génétique Évolutive humaine, Département Génomes et Génétique, 25, rue du Docteur Roux,

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“…For example, introgressed alleles associated to the immune system response can increase the risk of inflammation or autoimmunity under the environmental factors changing overtime (Barreiro & Quintana-Murci, 2010;Brinkworth & Barreiro, 2014;Corbett et al, 2018;Sironi & Clerici, 2010; S. C. Stearns, 2012). The case of celiac disease neatly illustrates the tradeoff between past selection and current maladaptation.…”

Section: Genomic Signatures Of Adaptive Introgression From Archaic Tomentioning

confidence: 99%

Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes

Dolgova

Lao

2018

Preprint

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The demographic history of anatomically modern humans (AMH) involves multiple migration events, population extinctions and genetic adaptations. As genome-wide data from complete genome sequencing becomes increasingly abundant and available even from extinct hominins, new insights of the evolutionary history of our species are discovered.It is currently known that AMH introgressed with archaic hominins once they left the African continent. Current out of African human genomes carry fragments of archaic origin. This review focuses on the fitness consequences of archaic interbreeding in current human populations. We discuss new insights and challenges that researchers face when interpreting the potential impact of introgression on fitness and testing hypotheses about the role of selection within the context of health and disease.Keywords: archaic introgression, fitness, natural selection, Neanderthal, Denisova, anatomically modern humans. Peer-reviewed version available at Genes 2018, 9, 358; doi:10.3390/genes9070358 2 Widespread interbreeding between homininsThe demographic history of anatomically modern humans (AMH) is complex, and involves a large number of migrations, genetic admixtures and introgressions, population extinctions and genetic adaptations, which overlap both in time and in space (see Figure 1). Due to this complexity, the evolutionary history of humankind is still far from being fully understood (Nielsen et al., 2017). During the last 30 years, the most accepted demographic scenario for explaining recent evolution of AMH has been the Out of Africa model (OOA). According to this model, AMH evolved in Africa around 100-200 thousands years ago (kya) in East Africa and migrated to the rest of the world. Classical "pure" OOA assumes that admixture with other archaic populations such as Neanderthals or Denisovans, present at the time of the rise of AMH, either did not occur or was negligible (Lalueza-Fox & Gilbert, 2011). Figure 1. Family tree of the four groups of early humans living in Eurasia 50,000 years ago and the inferred gene flow between the groups due to interbreeding (based on Prüfer et al., 2014;Mondal et al., 2016;Hsieh et al., 2016; Medina-Gomez et al., 2017). The direction and estimated magnitude of inferred gene flow events are shown. Branch lengths and timing of gene flows are not scaled. The dashed line indicates that it is uncertain whether Denisovan gene flow into modern humans in mainland Asia occurred directly or via Oceania. Light violet color indicates introgression events from unknown archaic populations (Ghost).However, genomic studies of ancient DNA have revealed that AMH interbred with other hominid lineages, such as Neanderthals and Denisovans, present in Eurasia up to ∼30,000-50,000 years ago Quach & Quintana-Murci, 2017;Vattathil & Akey, 2015 New studies based on current genetic diversity are suggesting that the events of archaic introgression in AMH did occur out of Africa with other hidden "ghost" archaic populations (Mondal et al., 2016). Furthermore, there i...

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The contribution of natural selection to present-day susceptibility to chronic inflammatory and autoimmune disease

Cited by 81 publications

References 153 publications

Understanding rare and common diseases in the context of human evolution

Understanding rare and common diseases in the context of human evolution

Immunité innée et maladies chez l’homme

Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes

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