Abstract:
: Background: Allergic diseases, including asthma, atopic dermatitis, allergic rhinitis, and food allergies, are caused by both environmental and genetic factors. The allergic condition, where genetic factors make up the largest proportion (up to 95%), is asthma. Aim: To identify polymorphisms and mutations in potentially disease-causing genes in a family affected with allergic asthma. Methods: Whole exome sequencing of the index patient was performed via next-generation sequencing. Variants in known allergy-associated susceptibility genes were identified by comparison with the reference genome GRChr37. Results: Seven common polymorphisms and three rare mutations were identified in the allergy-susceptibility genes of the index patient. Only four of these variants co-segregated with a second patient in the same family. These variants occurred in the TENS1, NPSR1, RAD50, and IL6R genes. Discussion: The variants observed in TENS1 and NPSR1 are relatively common (minor allele frequency, MAF ∼0.4), whereas the mutation in RAD50 is rare (MAF 0.0035). The mutation identified in IL6R (S409P) has never been found before. IL6R encodes an important receptor of the inflammatory system. The mutation occurs in the intracellular domain within a tyrosine-based motif, which is required for sorting of the IL6R protein to the basolateral side of polarized cells. It is likely that this rare mutation contributes-together with the other variants-to the predisposition to asthma and other allergic diseases.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Trueb B,Zhuang L,Villiger PMdoi
10.1089/gtmb.2020.0081subject
Has Abstractpub_date
2020-10-01 00:00:00pages
658-664issue
10eissn
1945-0265issn
1945-0257journal_volume
24pub_type
杂志文章abstract:AIM:The present study was undertaken to investigate a length polymorphism of (GT)n repeats of the heme oxygenase-1 (HMOX-1) gene and its association with serum bilirubin levels in apparently healthy adults. METHODS:A total of 211 individuals (normal hematology and liver function test) with bilirubin levels of 1.7 to 2...
journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2010.0132
更新日期:2011-04-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
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更新日期:2018-03-01 00:00:00
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pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2011.0085
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pub_type: 杂志文章,meta分析,评审
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pub_type: 杂志文章
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更新日期:2018-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1089/gtmb.2017.0051
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pub_type: 杂志文章,随机对照试验
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更新日期:2021-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1089/gtmb.2015.0272
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doi:10.1089/gtmb.2008.0123
更新日期:2009-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1089/gtmb.2011.0204
更新日期:2012-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1089/gtmb.2018.0118
更新日期:2018-09-01 00:00:00
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pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1089/gtmb.2013.0122
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pub_type: 杂志文章
doi:10.1089/gtmb.2012.0038
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更新日期:2012-08-01 00:00:00
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doi:10.1089/gtmb.2019.0159
更新日期:2020-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1089/gtmb.2018.0085
更新日期:2018-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2013-04-01 00:00:00
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更新日期:2020-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2012-12-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2014-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2014-03-01 00:00:00