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Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.
Hernangomez-Laderas, Alba; Cilleros-Portet, Ariadna; Martínez Velasco, Silvia; Marí, Sergi; Legarda, María; González-García, Bárbara Paola; Tutau, Carlos; García-Santisteban, Iraia; Irastorza, Iñaki; Fernandez-Jimenez, Nora; Bilbao, Jose Ramon.
Afiliación
  • Hernangomez-Laderas A; Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Basque Country, Spain.
  • Cilleros-Portet A; Biobizkaia Health Research Institute, Barakaldo, Basque Country, Spain.
  • Martínez Velasco S; Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Basque Country, Spain.
  • Marí S; Biobizkaia Health Research Institute, Barakaldo, Basque Country, Spain.
  • Legarda M; Biobizkaia Health Research Institute, Barakaldo, Basque Country, Spain.
  • González-García BP; Pediatric Gastroenterology Unit, Cruces University Hospital, Barakaldo, Basque Country, Spain.
  • Tutau C; Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Basque Country, Spain.
  • García-Santisteban I; Biobizkaia Health Research Institute, Barakaldo, Basque Country, Spain.
  • Irastorza I; Biobizkaia Health Research Institute, Barakaldo, Basque Country, Spain.
  • Fernandez-Jimenez N; Pediatric Gastroenterology Unit, Cruces University Hospital, Barakaldo, Basque Country, Spain.
  • Bilbao JR; Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Basque Country, Spain.
Biol Sex Differ ; 14(1): 86, 2023 12 11.
Article en En | MEDLINE | ID: mdl-38072919
Celiac disease (CeD) is an immune-related condition triggered by gluten consumption in genetically susceptible individuals. Women present higher prevalence of CeD than men, but the biological explanation of such difference has not been elucidated. In this study, we investigated whether specific genetic variations on the X chromosome were associated with CeD in each sex. Surprisingly, we found 13 genetic variants and 25 genes significantly linked to CeD in women, but not in men. Additionally, we identified genetic variants on the X chromosome associated with gene expression of monocytes, a type of immune cells that is activated in CeD after gluten intake. Integrating these data with our previous findings, we found that lower expression of a gene termed TMEM187 might be associated with a potential increase in CeD risk in women. Finally, validation experiments confirmed higher TMEM187 levels in blood cells from female CeD patients compared to non-celiac women, while no such difference was seen in males. In summary, our study suggests that the X-chromosome gene TMEM187 may play a key role in CeD development, providing insights into the higher prevalence of CeD in females.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Celíaca / Sitios de Carácter Cuantitativo Límite: Female / Humans / Male Idioma: En Revista: Biol Sex Differ Año: 2023 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad Celíaca / Sitios de Carácter Cuantitativo Límite: Female / Humans / Male Idioma: En Revista: Biol Sex Differ Año: 2023 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido