Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.

Effrosyni D Manali,Caroline Kannengiesser,Raphael Borie,Ibrahima Ba,Demosthenes Bouros,Aikaterini Markopoulou,Katerina Antoniou,Lykourgos Kolilekas,Andriana I Papaioannou,Vasileios Tzilas,Argyrios Tzouvelekis,Zoe Daniil,Evangelia Fouka,Despoina Papakosta,Areti Xyfteri,Anna Karakatsani,Stylianos Loukides,Ioanna Korbila,Ioannis P Tomos,Athanasios K Konstantinidis,Athina Gogali,Paschalis Steiropoulos,Ilias C Papanikolaou,Chrysa Bazaka,Aggeliki Haritou,Theodoros Vassilakopoulos,Maria Maniati,Konstantinos Kagouridis,Evangelos Markozannes,Evangelos Bouros,Christina Rampiadou,Georgia Kounti,Athina Trachalaki,Ilias Dimeas,Theodoros Karampitsakos,Panagiotis Lyberopoulos,Nikolaos Malamadakis, Sofia Spyropoulou,Patrick Revy,Elodie Lainey,Philippe Dieudé,Khedidja Rebah,Christelle Ménard,Claire Oudin,Cécile Masson,Aurélie Plessier,Marie Legendre,Nadia Nathan,Aurore Coulomb-L'Hermine,Annick Clement,Serge Amselem,Catherine Boileau,Bruno Crestani,Spyros Papiris

Respiration; international review of thoracic diseases（2022）

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摘要

The Gen-Phen-Re-GreekS in iIPF identified multiple and overlapping genetic components including the rarest, underlying disease's genetic "richesse," complexity and heterogeneity. Time-to-death differences may relate to diverse IPF pathogenetic mechanisms implicating "personalized" medical care driven by genotypes in the near future.

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关键词

Inheritable pulmonary fibrosis,MUC5B rs35705950 T risk allele,Pathogenic variations,Prognosis,Surfactant protein-related genes,Telomere-related genes

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