ORCID Profile
0000-0001-5005-3344
Current Organisation
Nucleome Therapeutics
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Publisher: Hindawi Limited
Date: 04-10-2016
DOI: 10.1002/HUMU.23121
Publisher: Springer New York
Date: 2015
DOI: 10.1007/978-1-4939-2839-2_10
Abstract: Genetic variation along the length of a chromosome can influence the transcription of a gene. In a heterozygous in idual, this may lead to one chromosome producing different levels of RNA, compared to its paired chromosome, for a given gene. Allelic differences in gene expression can offer insight into the role of variation in transcription, and subsequently infer a route to conferring disease risk. This phenomenon is known as allele expression imbalance or AEI, which may be assayed using a PCR-based method that includes the quantification of the relative dosage of each allele (e.g., 5' exonuclease assays, TaqMan™). Importantly, in heterozygous in iduals the resolution of expression imbalance is performed within a controlled system the comparison of the alternate allele is reported relative to the wild-type, as the experiment can be performed within a single s le, controlled for background genetic information. Alternative methods for the detection of AEI include Primer-extension MALDI-TOF (Sequenom MassARRAY(®)), Next-Generation Sequencing, and SNP genotyping arrays. Here we present the methods used for the TaqMan™ approach and include a description of the SNP identification, allele-specific PCR, and analytic methods to convert allele lification metrics to relative allele dosage.
Publisher: Springer Science and Business Media LLC
Date: 29-04-2015
DOI: 10.1038/EJHG.2015.87
Publisher: BMJ
Date: 18-08-2017
Publisher: Springer Science and Business Media LLC
Date: 05-02-2015
DOI: 10.1038/NCOMMS7046
Abstract: Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis and, despite the larger estimated heritability for PsA, the majority of genetic susceptibility loci identified to date are shared with psoriasis. Here, we present results from a case–control association study on 1,962 PsA patients and 8,923 controls using the Immunochip genotyping array. We identify eight loci passing genome-wide significance, secondary independent effects at three loci and a distinct PsA-specific variant at the IL23R locus. We report two novel loci and evidence of a novel PsA-specific association at chromosome 5q31. Imputation of classical HLA alleles, amino acids and SNPs across the MHC region highlights three independent associations to class I genes. Finally, we find an enrichment of associated variants to markers of open chromatin in CD8 + memory primary T cells. This study identifies key insights into the genetics of PsA that could begin to explain fundamental differences between psoriasis and PsA.
Publisher: Springer Science and Business Media LLC
Date: 06-07-2015
DOI: 10.1038/NCOMMS8741
Publisher: BMJ
Date: 28-04-2015
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Anthony Ryan.