Shared genetics in coeliac disease and other immune-mediated diseases

Gutiérrez-Achury, Javier; Almeida, Rodrigo Coutinho de; Wijmenga, Cisca

doi:10.1111/j.1365-2796.2011.02375.x

Cited by 68 publications

(56 citation statements)

References 96 publications

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“…Importantly, this study also demonstrated that nearly 50% of CD risk SNPs are in close proximity to expression quantitative trait loci (eQTLs), suggesting a likely role for changes in levels of gene expression in CD. As mentioned above, additional GWA studies have identified risk loci shared between CD and other autoimmune conditions such as T1DM, RA, CrD, and ulcerative colitis (UC) (Zhernakova et al 2007(Zhernakova et al , 2011Smyth et al 2008;Barrett et al 2009;Festen et al 2009Festen et al , 2011Cotsapas et al 2011;Gutierrez-Achury et al 2011). These studies have illuminated the tremendously pleiotropic nature of loci underlying autoimmune and other immune related conditions.…”

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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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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“…In Europe and the United States, the prevalence varies between 1 and 3% in the general population (4). The prevalence of CD confirmed by biopsy, in studies performed in Brazil to date, show a variation of 0.15 to 1.94% (5).…”

Section: Introductionmentioning

confidence: 99%

Search for DQ2.5 and DQ8 alleles using a lower cost technique in patients with type 1 diabetes and celiac disease in a population of southern Brazil

Bastos

Kowalski

Puñales

et al. 2017

Arch. Endocrinol. Metab.

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Objective: To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. Materials and methods: In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.5 and DQB1*0302 for DQ8 through RealTime Polymerase Chain Reaction (RT-PCR) technique, using TaqMan Genotyping Assays (Applied Biosystems, USA). The diagnosis of CD was established by duodenal biopsy and genotypic determination performed by StepOne Software v2.3. Allelic and genotypic frequencies were compared between groups using Chi-square and Fisher's exact tests and the multiple comparisons using Finner's adjustment. Results: Three hundred and sixty two patients with a median age of 14 years were divided into 3 groups: T1DM without CD (264); T1DM with CD (32) and CD without T1DM (66). In 97% of individuals with T1DM and CD and 76% of individuals with CD without T1DM, respectively, the alleles DQ2.5 and/or DQ8 were identified (p < 0.001). DQ2.5 was more common in individuals with CD (p = 0.004) and DQ8 was more common in individuals with type 1 diabetes (p = 0.008). Conclusions: The evaluation of the alleles for DQ2.5 and DQ8 by Tag-SNP technique showed a high negative predictive value among those with T1DM, similar to that described by the conventional technique. The high frequency of DQ8 alleles in individuals with T1DM did not allow differentiating those at higher risk of developing T1DM. Arch Endocrinol Metab. 2017;61(6):550-5

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“…For example although autoimmune diseases often affect specific organs, they might also have more systematic manifestations [42]. Examples include coeliac disease which primarily damages intestinal mucosa, but may also have neurological, psychiatric, or thyroid manifestations [42]. Moreover in [42] authors claim that most if not all of dysregulated processes involved in autoimmune diseases will in fact at some point result in T-cell activation.…”

Section: Introductionmentioning

confidence: 99%

“…Examples include coeliac disease which primarily damages intestinal mucosa, but may also have neurological, psychiatric, or thyroid manifestations [42]. Moreover in [42] authors claim that most if not all of dysregulated processes involved in autoimmune diseases will in fact at some point result in T-cell activation. Indeed, T cells are, either primarily or secondarily, involved in allergic, autoimmune, infectious, and malignant diseases [43].…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, any alterations in its regulation may affect other systems. For example although autoimmune diseases often affect specific organs, they might also have more systematic manifestations [42]. Examples include coeliac disease which primarily damages intestinal mucosa, but may also have neurological, psychiatric, or thyroid manifestations [42].…”

Section: Introductionmentioning

confidence: 99%

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Identification of genes and regulators that are shared across T cell associated diseases

Gawel¹

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Shared genetics in coeliac disease and other immune-mediated diseases

Abstract: Abstract. Gutierrez-Achury J, Coutinho de Almeida R,

Cited by 68 publications

References 96 publications

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

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

Search for DQ2.5 and DQ8 alleles using a lower cost technique in patients with type 1 diabetes and celiac disease in a population of southern Brazil

Identification of genes and regulators that are shared across T cell associated diseases

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