Patterns of Population Differentiation and Natural Selection on the Celiac Disease Background Risk Network

Sams, Aaron J.; Hawks, John

doi:10.1371/journal.pone.0070564

Cited by 10 publications

(10 citation statements)

References 36 publications

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“…On the contrary, we found that CD is equally common in the UK and Turkey, and the frequency of HLA-DQ2 is even higher in Turkey and Iran, (countries consuming more wheat and for a longer duration of time) than Finland and Ireland (countries consuming less gluten and for a shorter duration of time) [8]. Therefore, despite its negative effects on human health, the CD phenotype has not disappeared over time, but is even increasing in areas with high density of both gluten consumption and HLA-genotypes, the so-called "evolutionary paradox of CD" [15,16].…”

Section: Introductionmentioning

confidence: 99%

Celiac disease from a global perspective

Lionetti¹,

Gatti²,

Pulvirenti³

et al. 2015

Best Practice & Research Clinical Gastroenterology

149

103

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Section: Introductionmentioning

confidence: 99%

Celiac disease from a global perspective

Lionetti¹,

Gatti²,

Pulvirenti³

et al. 2015

Best Practice & Research Clinical Gastroenterology

149

103

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“…It has been estimated that only 2%-5% of at-risk gene carriers develop the disease (Schuppan et al, 2009). Previously thought a rare illness, celiac disease is now recognized as one of the most common genetic disorders (incidence of 1% in newborns) among populations with a long history of agriculture, such as those that settled Europe and the Near East (Gasbarrini, 2008;Sams and Hawks, 2013).…”

mentioning

confidence: 99%

Palaeodiet reconstruction in a woman with probable celiac disease: A stable isotope analysis of bone remains from the archaeological site of Cosa (Italy)

Scorrano

Brilli

Martínez-Labarga

et al. 2014

American J Phys Anthropol

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Stable isotope analysis in the reconstruction of human palaeodiets can yield clues to early human subsistence strategies, origins and history of farming and pastoralist societies, and intra- and intergroup social differentiation. In the last 10 years, the method has been extended to the pathological investigation. Stable isotope analysis to better understand a diet-related disease: celiac disease in ancient human bones was carried out. To do this, we analyzed the nitrogen and carbon isotopic composition of human (n = 37) and faunal (n = 8) bone remains from the archaeological site of Cosa at Ansedonia, on the Tyrrhenian coast near Orbetello (Tuscany), including the skeletal remains of a young woman (late 1st century-early 2nd century Common Era [CE]) with morphological and genetic features suggestive of celiac disease. We compared the young woman's isotopic data with those of other individuals recovered at the same site but from two later time periods (6th century CE; 11-12th century CE) and with literature data from other Italian archaeological sites dating to the same period. Her collagen δ(13) C and δ(15) N values differed from those of the samples at the same site, and from most but not all of the contemporary sites. Although the woman's diet appears distinct, chronic malnutrition resulting from severe malabsorption of essential nutrients due to celiac disease may have affected the isotopic composition of her bone collagen.

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“…haplotype homozygosity (EHH) (Sabeti et al 2002). However, Sams and Hawks (2013) found that this haplotype is present in the genome of Ötzi, the Tyrolean Iceman, which dates to 5,300 years ago (Keller et al 2012). The apparent antiquity of the allele does not necessarily conflict with evidence for recent strong selection, if a pre-existing rare allele was selected within the last 2,000 years, but the apparent contradiction may also be explained by the wide variance in Conclusions about CD Evolution.…”

Section: Presentation Pathophysiology and Genetics Of CDmentioning

confidence: 99%

Celiac Disease as a Model for the Evolution of Multifactorial Disease in Humans

Sams

Hawks

2014

Human Biology

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Abstract. Celiac disease (CD) is a multifactorial chronic inflammatory conditionthat results in injury of the mucosal lining of the small intestine upon ingestion of wheat gluten and related proteins from barley and rye. Although the exact mechanisms leading to CD are not fully understood, the genetic basis of CD has been relatively well characterized. In this review we briefly review the history of discovery, clinical presentation, pathophysiology, and current understanding of the genetics underlying CD risk. Then, we discuss what is known about the current distribution and evolutionary history of genes underlying CD risk in light of other evolutionary models of disease. Specifically, we conclude that the set of loci underlying CD risk did not cohesively evolve as a response to a single past selection event such as the development of agriculture. Rather, deterministic and stochastic evolutionary processes have both contributed to the present distribution of variation in CD risk loci. Selection has shaped some components of this network, but this selection appears to have occurred at different points in the past.Other parts of the CD risk network have likely arisen due to stochastic processes such as genetic drift. Celiac disease (CD) is a multifactorial chronic inflammatory condition that resultsin injury of the mucosal lining of the small intestine. The earliest descriptions of a condition with symptoms like CD date back to the first and second century writings of the Greek physician Arataeus (Simoons 1981;Losowsky 2008). The first modern description of CD is attributed to English physician Samuel Jones Gee, who was familiar with the writings of Arataeus. In 1888 (Dowd and Walker-Smith 1974;Simoons 1981;Losowsky 2008) Gee described the 'coeliac affection' as a condition of chronic indigestion associated with diarrhea, wasting, and weakness and common in people of all ages. Gee's report was the first to hypothesize dietary factors as a primary cause of the condition (Dowd and Walker-Smith 1974), and during the early twentieth century some workers noted the value of a starch free diet for prevention of CD (Haas 1924). Dicke and colleagues (1950, 1953) observed the detrimental effect of wheat flour (but not wheat starch) on CD patients experimentally confirming a role for diet as a driver of CD. Shortly thereafter, Anderson and colleagues (Anderson et al. 1952;Alvey et al. 1957) confirmed the effect of wheat on CD and identified wheat gluten as the primary culprit.CD appears to be an evolutionary paradox. Only since the 1950s have clinicians recognized that a gluten-free diet is an effective treatment (Barker and Liu 2008). Before that time, diagnosed and undiagnosed CD reduced the health and fitness of sufferers, with juvenile cases leading to malnutrition or death, and adult cases causing wasting, lack of adequate nutrition, greater susceptibility to infection, and direct reductions in fertility (Corrao et al. 2001;Soni and Badawy 2010). Despite these apparent costs, CD is common today (>1%) in several popul...

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Patterns of Population Differentiation and Natural Selection on the Celiac Disease Background Risk Network

Cited by 10 publications

References 36 publications

Celiac disease from a global perspective

Celiac disease from a global perspective

Palaeodiet reconstruction in a woman with probable celiac disease: A stable isotope analysis of bone remains from the archaeological site of Cosa (Italy)

Celiac Disease as a Model for the Evolution of Multifactorial Disease in Humans

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