Academic Journal
SERPINA1 Z allele is associated with cystic fibrosis liver disease
| العنوان: | SERPINA1 Z allele is associated with cystic fibrosis liver disease |
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| المؤلفون: | Boëlle, Pierre-Yves, Debray, Dominique, Guillot, Loïc, Corvol, Harriet |
| المساهمون: | Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Mucoviscidose: physiopathologie et phénogénomique CRSA, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) |
| المصدر: | ISSN: 1098-3600. |
| بيانات النشر: | HAL CCSD Nature Publishing Group |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie |
| الوصف: | International audience ; Purpose: The SERPINA1 Z allele is associated with cystic fibrosis (CF)-related liver disease (CFLD), a common manifestation in patients with CF. We estimated CFLD incidence based on the SERPINA1 genotype in 3328 CF patients with CFLD-phenotype information.Methods: The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.Results: Overall, 3% of patients carried the SERPINA1 Z allele and 13% carried the S allele. The cumulative incidence of CFLD increased more rapidly in patients carrying the Z allele (hazard ratio [HR] = 1.6; 95% confidence interval [CI] = 1.1–2.4, P = 0.019), reaching 47% by age 25 compared with 30% in noncarriers. Increased risk was similar for patients with severe CFLD (HR = 1.5, 95% CI = 0.7–3.2, P = 0.31) but failed to reach significance due to a limited sample size of Z-allele carriers. No significant effect was found for the S allele.Conclusion: CF patients carrying the SERPINA1 Z allele had an increased risk of developing CFLD and related complications compared with noncarriers. Routine SERPINA1 Z genotyping upon CF diagnosis is warranted for identifying patients worthy of closer liver disease monitoring. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | hal-02016647; https://hal.sorbonne-universite.fr/hal-02016647; https://hal.sorbonne-universite.fr/hal-02016647/document; https://hal.sorbonne-universite.fr/hal-02016647/file/manuscript%20R1%20v2.pdf |
| DOI: | 10.1038/s41436-019-0449-6 |
| الاتاحة: | https://hal.sorbonne-universite.fr/hal-02016647 https://hal.sorbonne-universite.fr/hal-02016647/document https://hal.sorbonne-universite.fr/hal-02016647/file/manuscript%20R1%20v2.pdf https://doi.org/10.1038/s41436-019-0449-6 |
| Rights: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.E826E2F2 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41436-019-0449-6 |
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