ArticleGenes and immunity2008
Variations of the perforin gene in patients with multiple sclerosis.
Article in Genes and immunity, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.Blood · 2025Article
- Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.Multiple sclerosis (Houndmills, Basingstoke, England) · 2023Article
- Natural Killer Cells in Multiple Sclerosis: Entering the Stage.Frontiers in immunology · 2022Review
- Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry.Blood · 2020Article
- Human perforin gene variation is geographically distributed.Molecular genetics & genomic medicine · 2018Article
- Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.International journal of molecular sciences · 2017Review
- Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.Immunology and cell biology · 2015Article
- Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.PloS one · 2015Article
- Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle.Italian journal of pediatrics · 2014Article
- Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Frontiers in immunology · 2014Review
- Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.Frontiers in immunology · 2013Review
- Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.European journal of human genetics : EJHG · 2013Article
- Immunity and inflammation in neurodegenerative diseases.American journal of neurodegenerative disease · 2013Article
- Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.PloS one · 2013Article
- Perforin expression by CD4+ regulatory T cells increases at multiple sclerosis relapse: sex differences.International journal of molecular sciences · 2012Article
- High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.Journal of endocrinological investigation · 2012Article
- Unexpected role for granzyme K in CD56bright NK cell-mediated immunoregulation of multiple sclerosis.Journal of immunology (Baltimore, Md. : 1950) · 2011Article
- Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2009Article
- Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy.Genes and immunityArticle
- Axonal damage in multiple sclerosis.The Mount Sinai journal of medicine, New YorkArticle
Corrections and comments
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Authors and funding
24 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Perforin is involved in cell-mediated cytotoxicity and mutations of its gene (PRF1) cause familial hemophagocytic lymphohistiocytosis (FLH2). PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. All together, carriers of these variations were more frequent in patients than in controls (phenotype frequency: 17 vs 9%, P=0.0166; odds ratio (OR)=2.06, 95% confidence interval (CI): 1.13-3.77). Although A91V was the most frequent variation and displayed a trend of association with multiple sclerosis (MS) in the first population of patients and controls (frequency of the 91V allele: 0.076 vs 0.043, P=0.044), we used it as a marker to confirm PRF1 involvement in MS and assessed its frequency in a second population of 966 patients and 1520 controls. Frequency of the 91V allele was significantly higher in patients than in controls also in the second population (0.075 vs 0.058%, P=0.019). In the combined cohorts of 1156 patients and 1788 controls, presence of the 91V allele in single or double dose conferred an OR=1.38 (95% CI=1.10-1.74). These data suggest that A91V and possibly other perforin variations indicate susceptibility to MS.
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