Gender-specific association of the PTPN22 C1858T polymorphism with achalasia

Santiago, José Luis; Martínez, Alfonso; Benito, María; León, Antonio Ruiz de; Mendoza, Juan L.; Fernández‐Arquero, Miguel; Figueredo, M. Á.; Concha, Emilio G. de la; Urcelay, Elena

doi:10.1016/j.humimm.2007.07.005

Cited by 32 publications

(26 citation statements)

References 26 publications

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“…Associations between this variant and some autoimmune conditions, such as rheumatoid arthritis and type 1 diabetes, have already been established (Kahles et al 2005;Pierer et al 2006). A gender-specific association has been observed between this variant and achalasia: the T allele of C1858T showed a significant association in female patients compared to controls (Santiago et al 2007).…”

Section: Candidate Genes Mediating Autoimmune Response/ Inflammatory mentioning

confidence: 93%

Achalasia: will genetic studies provide insights?

et al. 2010

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Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.

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Section: Candidate Genes Mediating Autoimmune Response/ Inflammatory mentioning

confidence: 93%

Achalasia: will genetic studies provide insights?

et al. 2010

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“…Especially genes that are associated with MHC genes, in particular class II MHC genes, are linked to autoimmunity. Several previous reports indeed indicated a significant association of HLA-DR and -DQ alleles with achalasia (18)(19)(20)(21)(22)(23), and even showed that antineuronal antibodies were especially found in patients carrying the DQA1 * 0103 and DQB1 * 0603 alleles (14).…”

mentioning

confidence: 85%

Achalasia: Virus-Induced Euthanasia of Neurons

Boeckxstaens

2008

The American Journal of Gastroenterology

102

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“…It has been postulated that the PTPN22-allele 1858T promotes an autoimmune response that results in chronic inflammation and the associations with some autoimmune conditions have already been established. A gender-specific association has been observed between the T allele of C1858T and achalasia in female patients (20,21).…”

Section: Discussionmentioning

confidence: 94%

Achalasia and thyroid disease: possible autoimmune connection?

Quidute

Freitas²,

Lima³

et al. 2012

Arq Bras Endocrinol Metab

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SUMMARYMany cases have been published showing a co-existence of autoimmune thyroid diseases (AITDs) and other autoimmune diseases. About a quarter of patients with achalasia have a concurrent thyroid disease, most commonly associated with hypothyroidism. Although relatively rare, the association of achalasia and hyperthyroidism requires attention. The physiopathology of Grave's Disease (GD) involves B-and T-mediator lymphocytes, which have an affinity for known thyroid antigens: thyroglobulin, thyroid-peroxidase, and thyrotrophin receptor. Currently, however, the real physiopathogenesis of achalasia continues to be unknown. Some important findings are suggestive of an autoimmune mechanism: significant infiltration of the myoenteric plexus by monocytes, presence of the class II-Human Histocompatibility Complex DQwl antigen and antibodies to myoenteric neurons. The present case reports a patient who, despite testing negative for Chagas' disease, had achalasia, progressed to developing significant wasting and worsening of his quality of life, was later diagnosed with hyperthyroidism. After endoscopic esophageal dilatation and radioiodine ablation of the thyroid gland, there was great improvement in the patient clinical condition. Arq Bras Endocrinol Metab. 2012;56(9):677-82 SUMáRioMuitos casos têm sido publicados mostrando uma coexistência entre as doenças autoimunes da tireoide (DAIT) e outras doenças autoimunes. Cerca de um quarto dos pacientes com acalasia têm doenças da tireoide concomitantemente, sendo a mais comum a associação com hipotireoidismo. Apesar de ser relativamente rara, a associação da acalasia e hipertireoidismo requer atenção. A fisiopatologia da doença de Graves (DG) envolve os linfócitos B e T-mediados, os quais têm afinidade pelos antígenos da tireoide: tireoglobulina, tireoperoxidase e receptor de tireotrofina. Atualmente, a real fisiopatogenia da acalasia continua desconhecida. No entanto, alguns importantes achados em análise são sugestivos de mecanismo autoimune: infiltração significativa do plexo mioentérico pelos monócitos, presença do antígeno-DQwl do Complexo Humano de Histocompatibilidade classe II e presença de anticorpos contra neurô-nios mioentéricos. Este presente caso aborda um paciente que, apesar de testes negativos para doença de Chagas, tem acalasia que progrediu para o desenvolvimento de significativa perda ponderal e piora da sua qualidade de vida, posteriormente, diagnosticado com hipertireoidismo. Após dilatação endoscópica esofágica e ablação da glândula tireoide com radioiodo, houve grande melhora na condição clínica do paciente. Arq Bras Endocrinol Metab. 2012;56(9):677-82

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Gender-specific association of the PTPN22 C1858T polymorphism with achalasia

Cited by 32 publications

References 26 publications

Achalasia: will genetic studies provide insights?

Achalasia: will genetic studies provide insights?

Achalasia: Virus-Induced Euthanasia of Neurons

Achalasia and thyroid disease: possible autoimmune connection?

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