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- W2914783711 abstract "This study analyzed the KISS1 c.-145delA (rs5780218) promoter polymorphism in a cohort of patients with growth hormone secreting pituitary adenoma (somatotropinoma) and controls, to investigate its role in the incidence of acromegaly and to assess patient/tumor characteristics.Material and methods rs5780218 allelic and genotypic distributions were compared between 49 somatotropinoma patients and 167 healthy controls. rs5780218 was also assessed in relation to patient characteristics and tumor aggressiveness, as characterized by tumor invasion and resistance to conventional therapy. The relationship between KISS1 mRNA expression and the rs5780218 genotype was also assessed in available pituitary tumor samples.The homozygous -/- variant genotype was associated with high rates of somatotropinoma (P < 0.01), but not with tumor invasiveness, patient characteristics or hormonal remission. KISS1 mRNA expression was much lower in somatotropinomas carrying the deleted allele than in homozygous wild type AA.In this pilot study, the rs5780218 promoter polymorphism was evaluated in pituitary adenoma, and showed a possible association with the incidence of somatotropinoma but not with tumor progression.Cette étude vise à analyser le polymorphisme c.-145delA (rs5780218) du promoteur KISS1 dans une cohorte de patients avec adénomes somatotropes afin d’évaluer son rôle dans l’incidence de l’acromégalie et des caractéristiques patient/tumeur.La fréquence respective des allèles et génotypes du rs5780218 a été comparée entre 49 patients atteints d’adénome somatotrope et 167 témoins volontaires sains, et analysée selon les caractéristiques des patients et des tumeurs (agressivité, invasivité, réponse au traitement). Nous avons également évalué la relation entre l’expression de l’ARNm du KISS1 et du génotype rs5780218 dans des échantillons de tumeurs hypophysaire disponibles.Le génotype homozygote -/- s’associait à une fréquence plus élevée d’adénomes somatotropes, mais sans association avec l’invasivité, ni les caractéristiques cliniques du patient ou la rémission hormonale. De plus, une très faible expression de l’ARNm du KISS1 a été observée dans les adénomes somatotropes porteurs de l’allèle mutant -/* par rapport aux homozygote AA.Cette première évaluation du rôle du polymorphisme rs5780218 dans la survenue des adénomes hypophysaires suggère une association possible à un sur-risque de survenue d’un somatotrope, mais aucune association à la progression." @default.
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- W2914783711 date "2019-04-01" @default.
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- W2914783711 title "The SURCOUF study: Design and baseline characteristics of a prospective population-based cohort on diabetes care in France" @default.
- W2914783711 doi "https://doi.org/10.1016/j.ando.2018.11.005" @default.
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