ArticleJournal of medical genetics2011
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.The Journal of experimental medicine · 2018Trial
- Severe COVID-19 represents an undiagnosed primary immunodeficiency in a high proportion of infected individuals.Clinical & translational immunology · 2022Review
- Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.Science immunology · 2018Article
- Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.The Journal of experimental medicine · 2015Article
- Microarray analysis of Mycobacterium tuberculosis-infected monocytes reveals IL26 as a new candidate gene for tuberculosis susceptibility.Immunology · 2015Article
- Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.Seminars in immunology · 2014Review
- Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.Science (New York, N.Y.) · 2012Article
- Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy.Arthritis research & therapy · 2012Review
- Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.The Journal of infection · 2012Review
- Hyperimmunoglobulin E syndromes in pediatrics.Current opinion in pediatrics · 2011Review
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 4 countries.
Funding
Abstract
introductionGenome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity.
methodsThe authors applied an empirical approach to test for linkage accounting for genetic heterogeneity by calculating the sum of positive per-family multipoint LOD scores (S) across all positions, and obtaining corresponding empirical p values (EmpP) through permutations.
resultsThe statistical power of the approach was found to be consistently higher than the classical heterogeneity LOD by simulations. Among 21 first-cousin matings with a single affected child, for five families linked to a locus of interest and 16 families to other loci, S/EmpP achieved a power of 40% versus 28% for heterogeneity LOD at an α level of 0.001. The mean size of peak linkage regions was markedly higher for true loci than false positive regions. The S/EmpP approach was applied to a sample of 17 consanguineous families with Mendelian susceptibility to mycobacterial disease, leading to the identification of two mutations in IL12RB1 and TYK2 from the largest of six linkage regions at p<10(-3).
conclusionsThe S/EmpP approach is a flexible and powerful approach that can be applied to linkage analysis of families with suspected Mendelian disorders.
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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.