ArticlePloS one2013
Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.Human mutation · 2024Article
- Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.Genome medicine · 2021Article
- Fast and Robust Identity-by-Descent Inference with the Templated Positional Burrows-Wheeler Transform.Molecular biology and evolution · 2021Article
- Alternative Applications of Genotyping Array Data Using Multivariant Methods.Trends in genetics : TIG · 2020Review
- Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- Analysis of microRNA and Gene Expression Profiles in Multiple Sclerosis: Integrating Interaction Data to Uncover Regulatory Mechanisms.Scientific reports · 2016Article
- Identity-by-descent mapping for diastolic blood pressure in unrelated Mexican Americans.BMC proceedings · 2016Article
- Dominant and Protective Role of the CYTH4 Primate-Specific GTTT-Repeat Longer Alleles Against Neurodegeneration.Journal of molecular neuroscience : MN · 2015Article
- Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort.European journal of human genetics : EJHG · 2015Article
- A renewal theory approach to IBD sharing.Theoretical population biology · 2014Article
- Efficient clustering of identity-by-descent between multiple individuals.Bioinformatics (Oxford, England) · 2014Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have identified around 60 common variants associated with multiple sclerosis (MS), but these loci only explain a fraction of the heritability of MS. Some missing heritability may be caused by rare variants that have been suggested to play an important role in the aetiology of complex diseases such as MS. However current genetic and statistical methods for detecting rare variants are expensive and time consuming. 'Population-based linkage analysis' (PBLA) or so called identity-by-descent (IBD) mapping is a novel way to detect rare variants in extant GWAS datasets. We employed BEAGLE fastIBD to search for rare MS variants utilising IBD mapping in a large GWAS dataset of 3,543 cases and 5,898 controls. We identified a genome-wide significant linkage signal on chromosome 19 (LOD = 4.65; p = 1.9×10(-6)). Network analysis of cases and controls sharing haplotypes on chromosome 19 further strengthened the association as there are more large networks of cases sharing haplotypes than controls. This linkage region includes a cluster of zinc finger genes of unknown function. Analysis of genome wide transcriptome data suggests that genes in this zinc finger cluster may be involved in very early developmental regulation of the CNS. Our study also indicates that BEAGLE fastIBD allowed identification of rare variants in large unrelated population with moderate computational intensity. Even with the development of whole-genome sequencing, IBD mapping still may be a promising way to narrow down the region of interest for sequencing priority.
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