AI Article Synopsis
- The study investigates the link between the PRF1 gene mutation (specifically the Ala91Val polymorphism) and the risk of hemophagocytic lymphohistiocytosis (HLH).
- A meta-analysis of six high-quality case-control studies was conducted, involving 391 HLH patients and 975 controls, using established statistical methods.
- The results showed a significant association between the PRF1 Ala91Val polymorphism and increased HLH risk, suggesting that further research on this genetic variation's role in HLH onset is warranted.
Article Abstract
Background: Perforin (PRF1) gene mutation can cause the onset of hemophagocytic lymphohistiocytosis (HLH). It has reported that PRF1 Ala91Val polymorphism was related with HLH risk. In the meta-analysis, we aim to evaluate the association between PRF1 Ala91Val polymorphism and HLH risk.
Methods: We accomplished a meta-analysis of six published case-control studies including 391 patients with HLH and 975 controls. We evaluated the quality of each study through Newcastle-Ottawa Scale (NOS). Data analysis was performed with Stata software.
Results: In general, all studies were of high quality (NOS score higher than 7). There were statistically significant between the PRF1 Ala91Val polymorphism and HLH risk though the pooled analysis [for Ala/Val vs. Ala/Ala: pooled odds ratio (OR) = 3.22, 95% confidence interval (CI) 1.08-9.56, P = 0.035, random model; for Ala/Val + Val/Val vs. Ala/Ala: pooled OR = 2.96, 95% CI 1.14-7.69, P = 0.025, random model]. Furthermore, sensitivity analysis also revealed a relationship between PRF1 Ala91Val polymorphism and HLH risk (for Ala/Val vs. Ala/Ala: pooled OR = 5.236, 95% CI 2.72-10.08, P < 0.000, I = 12.1%, P = 0.332; for Ala/Val + Val/Val vs. Ala/Ala, pooled OR = 4.856, 95% CI 2.66-8.85, P < 0.000, I = 5.9%, P = 0.373). Funnel plot and Egger's test did not indicate obvious published bias (P = 0.841 for Ala/Val vs. Ala/Ala; P = 0.284 for Ala/Val + Val/Val vs. Ala/Ala).
Conclusion: This meta-analysis indicated that PRF1 Ala91Val polymorphism affects the factor for developing HLH and future studies of PRF1 Ala91Val on the onset of HLH will be guaranteed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12519-020-00351-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Ann Clin Biochem
September 2023
Department of Clinical Biochemistry and Clinical Genetics, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disorder characterized by the proliferation and infiltration of macrophages and hyperactivated T lymphocytes that escape from the physiological control pathways and favour the existence of an environment of excessive inflammation and tissue destruction. HLH has been classified into two types: a primary or familial autosomal recessive form, caused by mutations in genes encoding proteins involved in the granule-dependent cytotoxic pathway (familial hemophagocytic lymphohistiocytosis [FHL] types 1-5); and other secondary or acquired form, generally associated with infections, malignancy, autoimmune diseases, metabolic disorders or primary immunodeficiencies. Since the first familial hemophagocytic lymphohistiocytosis-2 (FHL2) causative mutation in the gene was described in 1999, more than 200 mutations have been identified to date.
View Article and Find Full Text PDFGenetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy.
Eur J Neurol
May 2021
Department of Immunology, Erasmus MC, University Medical Centre, Rotterdam, the Netherlands.
Background And Purpose: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a clinical and electrophysiological heterogeneous immune-mediated polyneuropathy. Intravenous immunoglobulin (IVIg), corticosteroids, and plasma exchange are proven effective treatments for CIDP. The clinical response to IVIg is variable between patients and currently unexplained.
View Article and Find Full Text PDFAssociations between PRF1 Ala91Val polymorphism and risk of hemophagocytic lymphohistiocytosis: a meta-analysis based on 1366 subjects.
World J Pediatr
December 2020
Beijing Children's Hospital, Nanlishi Road No. 56, Xicheng District, Beijing, China.
Article Synopsis
- The study investigates the link between the PRF1 gene mutation (specifically the Ala91Val polymorphism) and the risk of hemophagocytic lymphohistiocytosis (HLH).
- A meta-analysis of six high-quality case-control studies was conducted, involving 391 HLH patients and 975 controls, using established statistical methods.
- The results showed a significant association between the PRF1 Ala91Val polymorphism and increased HLH risk, suggesting that further research on this genetic variation's role in HLH onset is warranted.
Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy.
Genes Immun
August 2015
1] Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale 'Amedeo Avogadro', Novara, Italy [2] Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale 'Amedeo Avogadro', Novara, Italy.
Perforin (PRF) has a key role in the function of cytotoxic T and natural killer cells. Rare variations of PRF1 predispose to autoimmunity. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease of the peripheral nervous system, involving defective lymphocyte apoptosis.
View Article and Find Full Text PDFAn A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
PLoS One
December 2014
Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Pathology Department, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, IFIMAV, Santander, Spain.
NK/T-cell lymphoma (NKTCL) is the most frequent EBV-related NK/T-cell disease. Its clinical manifestations overlap with those of familial haemophagocytic lymphohistiocytosis (FHLH). Since PERFORIN (PRF1) mutations are present in FHLH, we analysed its role in a series of 12 nasal and 12 extranasal-NKTCLs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!