ArticleGenes and immunity2010
A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
Article in Genes and immunity, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.American journal of human genetics · 2013Pooled it
- Article
- A Phenome-Wide Mendelian Randomization and Colocalization Study Reveals Genetic Association Between PBC and Other Autoimmune Disorders.Canadian journal of gastroenterology & hepatology · 2025Article
- Article
- Potential drug targets for multiple sclerosis identified through Mendelian randomization analysis.Brain : a journal of neurology · 2023Article
- Multiple Sclerosis: Inflammatory and Neuroglial Aspects.Current issues in molecular biology · 2023Review
- Identification of genetic variants for blood insulin level in sex-stratified Korean population and evaluation of the causal relationship between blood insulin level and polycystic ovary syndrome.Genes & genomics · 2021Article
- Investigating the shared genetic architecture between multiple sclerosis and inflammatory bowel diseases.Nature communications · 2021Article
- CD300f immunoreceptor is associated with major depressive disorder and decreased microglial metabolic fitness.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.Journal of autoimmunity · 2018Article
- Enhanced efferocytosis by dendritic cells underlies memory T-cell expansion and susceptibility to autoimmune disease in CD300f-deficient mice.Cell death and differentiation · 2016Article
- Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.Disease markers · 2015Article
- Single nucleotide polymorphism (SNP)-strings: an alternative method for assessing genetic associations.PloS one · 2014Article
- Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.Nature genetics · 2013Article
- Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis.PloS one · 2013Article
- Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex.Human molecular genetics · 2011Article
Corrections and comments
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Authors and funding
24 authors at 14 institutions in 4 countries.
Funding
Abstract
Several single-nucleotide polymorphism (SNP) genome-wide association studies (GWASs) have been completed in multiple sclerosis (MS). Follow-up studies of the variants with the most promising rankings, especially when supplemented by informed candidate gene selection, have proven to be extremely successful. In this study we report the results of a multi-stage replication analysis of the putatively associated SNPs identified in the Wellcome Trust Case Control Consortium non-synonymous SNP (nsSNP) screen. In total, the replication sample consisted of 3444 patients and 2595 controls. A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 (MMEL1; odds ratio=1.16, P=3.54 × 10⁻⁶) in MS susceptibility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.