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Manali, Effrosyni D.; Kannengiesser, Caroline; Borie, Raphael; Ba, Ibrahima; Bouros, Demosthenes; Markopoulou, Aikaterini; Antoniou, Katerina; Kolilekas, Lykourgos; Papaioannou, Andriana I.; Tzilas, Vasileios; Tzouvelekis, Argyrios; Daniil, Zoe; Fouka, Evangelia; Papakosta, Despoina; Xyfteri, Areti; Karakatsani, Anna; Loukides, Stylianos; Korbila, Ioanna; Tomos, Ioannis P.; Konstantinidis, Athanasios K.; Gogali, Athina; Steiropoulos, Paschalis; Papanikolaou, Ilias C.; Bazaka, Chrysa; [...]

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

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  • Medientyp: E-Artikel
  • Titel: Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
  • Beteiligte: Manali, Effrosyni D.; Kannengiesser, Caroline; Borie, Raphael; Ba, Ibrahima; Bouros, Demosthenes; Markopoulou, Aikaterini; Antoniou, Katerina; Kolilekas, Lykourgos; Papaioannou, Andriana I.; Tzilas, Vasileios; Tzouvelekis, Argyrios; Daniil, Zoe; Fouka, Evangelia; Papakosta, Despoina; Xyfteri, Areti; Karakatsani, Anna; Loukides, Stylianos; Korbila, Ioanna; Tomos, Ioannis P.; Konstantinidis, Athanasios K.; Gogali, Athina; Steiropoulos, Paschalis; Papanikolaou, Ilias C.; Bazaka, Chrysa; [...]
  • Erschienen: S. Karger AG, 2022
  • Erschienen in: Respiration
  • Sprache: Englisch
  • DOI: 10.1159/000520657
  • ISSN: 0025-7931; 1423-0356
  • Schlagwörter: Pulmonary and Respiratory Medicine
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;/i&gt;&lt;/b&gt; Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of &lt;i&gt;MUC5B&lt;/i&gt; gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients’ characteristics in the Greek national IPF cohort with suspected heritability. &lt;b&gt;&lt;i&gt;Patients and Methods:&lt;/i&gt;&lt;/b&gt; 150 patients with familial PF, personal-family extrapulmonary disease suggesting short telomere syndrome, and/or young age IPF were analyzed. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; &lt;i&gt;MUC5B&lt;/i&gt; rs35705950 T risk allele was detected in 103 patients (90 heterozygous, 13 homozygous, allelic frequency of 39%), monoallelic TRG pathogenic variations in 19 patients (8 &lt;i&gt;TERT&lt;/i&gt;, 5 &lt;i&gt;TERC&lt;/i&gt;, 2 &lt;i&gt;RTEL1&lt;/i&gt;, 2 &lt;i&gt;PARN&lt;/i&gt;, 1 &lt;i&gt;NOP10&lt;/i&gt;, and 1 &lt;i&gt;NHP2&lt;/i&gt;), and biallelic &lt;i&gt;ABCA3&lt;/i&gt; pathogenic variations in 3. Overlapping &lt;i&gt;MUC5B rs35705950&lt;/i&gt; T risk allele and TRG pathogenic variations were shown in 11 patients (5 &lt;i&gt;TERT&lt;/i&gt;, 3 &lt;i&gt;TERC&lt;/i&gt;, 1 &lt;i&gt;PARN&lt;/i&gt;, 1 &lt;i&gt;NOP10&lt;/i&gt;, and 1 &lt;i&gt;NHP2&lt;/i&gt;), &lt;i&gt;MUC5B&lt;/i&gt; rs35705950 T risk allele, and biallelic &lt;i&gt;ABCA3&lt;/i&gt; pathogenic variations in 2. In 38 patients, neither &lt;i&gt;MUC5B&lt;/i&gt; rs35705950 T risk allele nor TRG pathogenic variations were detectable. Kaplan-Meier curves showed differences in time-to-death (&lt;i&gt;p&lt;/i&gt; = 0.025) where patients with &lt;i&gt;MUC5B&lt;/i&gt; rs35705950 T risk allele alone or in combination with TRG pathogenic variations presented better prognosis. &lt;b&gt;&lt;i&gt;Conclusion:&lt;/i&gt;&lt;/b&gt; 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. </jats:p>