ArticleThe Journal of allergy and clinical immunology2009
Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility.
Article in The Journal of allergy and clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Interleukin-4 gene polymorphism (C33T) and the risk of the asthma: a meta-analysis based on 24 publications.BMC medical genetics · 2020Pooled it
- Interleukin 4 gene polymorphism (-589C/T) and the risk of asthma: a meta-analysis and met-regression based on 55 studies.BMC immunology · 2020Pooled it
- Article
- Pleiotropic Effects of Immune Responses Explain Variation in the Prevalence of Fibroproliferative Diseases.PLoS genetics · 2015Review
- Asthma risk factors.International forum of allergy & rhinology · 2015Review
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- Adjusting family relatedness in data-driven burden test of rare variants.Genetic epidemiology · 2014Article
- Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.Human molecular genetics · 2014Article
- A method to incorporate prior information into score test for genetic association studies.BMC bioinformatics · 2014Article
- Genetic polymorphisms and associated susceptibility to asthma.International journal of general medicine · 2013Article
- Genetics of asthma susceptibility and severity.Clinics in chest medicine · 2012Review
- Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.Human molecular genetics · 2012Article
- Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children.Genes and immunity · 2012Article
- Comparison of statistical tests for disease association with rare variants.Genetic epidemiology · 2011Article
- A data-driven method for identifying rare variants with heterogeneous trait effects.Genetic epidemiology · 2011Article
- IFNG genotype and sex interact to influence the risk of childhood asthma.The Journal of allergy and clinical immunology · 2011Article
- Differences in candidate gene association between European ancestry and African American asthmatic children.PloS one · 2011Article
- Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population.BMC medical genetics · 2011Article
- KIF3A, a cilia structural gene on chromosome 5q31, and its polymorphisms show an association with aspirin hypersensitivity in asthma.Journal of clinical immunology · 2011Article
- Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes.American journal of human genetics · 2010Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundCommon genetic variations in the IL4 gene have been associated with asthma and atopy in European and Asian populations, but not in African Americans.
objectiveBecause populations of African descent have increased levels of genetic variation compared with other populations, particularly with respect to low frequency or rare variants, we hypothesized that rare variants in the IL4 gene contribute to the development of asthma in African Americans.
methodsTo test this hypothesis, we sequenced the IL4 locus in 72 African Americans with asthma and 70 African American controls without asthma to identify novel and rare polymorphisms in the IL4 gene that may be contributing to asthma susceptibility.
resultsWe report an excess of private noncoding single nucleotide polymorphisms (SNPs) in the subjects with asthma compared with control subjects without asthma (P = .031). Tajima's D is significantly more negative in subjects with asthma (-0.375) than controls (-0.073; P = .04), reflecting an excess of rare variants in the subjects with asthma.
conclusionOur findings indicate that SNPs at the IL4 locus that are potentially exclusive to African Americans are associated with susceptibility to asthma. Only 3 of the 26 private SNPs (ie, SNPs present only in the subjects with asthma or only in the controls) are tagged by single SNPs on one of the common genotyping platforms used in genome-wide association studies. We also find that most of the private SNPs cannot be reliably imputed, highlighting the importance of sequencing to identify genetic variants contributing to common diseases in African Americans.
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