Issam Zineh1, Gregory J Welder, Taimour Y Langaee. 1. University of Florida College of Pharmacy, Department of Pharmacy Practice and Center for Pharmacogenomics, P.O. Box 100486, Gainesville, FL 32610, USA. zineh@cop.ufl.edu
Abstract
BACKGROUND: Epithelial neutrophil activating peptide (ENA-78) is encoded by the polymorphic CXCL5 gene and is a recruiter and activator of neutrophils. Furthermore, ENA-78 may be involved in pathological inflammatory processes and variable drug responses. METHODS: To facilitate future disease-gene and pharmacogenetic investigation of ENA-78, we developed and cross-validated medium- to high-throughput genotyping assays for 2 commonly occurring CXCL5 polymorphisms (rs352046 and rs425535). Furthermore, we compared allele and genotype frequencies in a U.S. population with those of a previously studied European population. RESULTS: There was 100% genotype concordance between the 2 methods used (Pyrosequencing and TaqMan). Variant allele frequencies for rs352046 were consistent between the U.S. (16%) and European (16%) populations, while the rs425535 variant allele was more than twice as high in the European cohort (38% vs. 16%). There was complete linkage of genotypes at both loci in our population. CONCLUSIONS: The distribution of variant alleles for the 2 polymorphisms studied should be further evaluated in other populations. In addition, our data highlight the importance of assay validation using multiple platforms.
BACKGROUND: Epithelial neutrophil activating peptide (ENA-78) is encoded by the polymorphic CXCL5 gene and is a recruiter and activator of neutrophils. Furthermore, ENA-78 may be involved in pathological inflammatory processes and variable drug responses. METHODS: To facilitate future disease-gene and pharmacogenetic investigation of ENA-78, we developed and cross-validated medium- to high-throughput genotyping assays for 2 commonly occurring CXCL5 polymorphisms (rs352046 and rs425535). Furthermore, we compared allele and genotype frequencies in a U.S. population with those of a previously studied European population. RESULTS: There was 100% genotype concordance between the 2 methods used (Pyrosequencing and TaqMan). Variant allele frequencies for rs352046 were consistent between the U.S. (16%) and European (16%) populations, while the rs425535 variant allele was more than twice as high in the European cohort (38% vs. 16%). There was complete linkage of genotypes at both loci in our population. CONCLUSIONS: The distribution of variant alleles for the 2 polymorphisms studied should be further evaluated in other populations. In addition, our data highlight the importance of assay validation using multiple platforms.
Authors: Julia Höglund; Nima Rafati; Mathias Rask-Andersen; Stefan Enroth; Torgny Karlsson; Weronica E Ek; Åsa Johansson Journal: Sci Rep Date: 2019-11-14 Impact factor: 4.379
Authors: Amber L Beitelshees; Christina L Aquilante; Hooman Allayee; Taimour Y Langaee; Gregory J Welder; Richard S Schofield; Issam Zineh Journal: Hum Genomics Date: 2012-08-02 Impact factor: 4.639
Authors: Issam Zineh; Amber L Beitelshees; Gregory J Welder; Wei Hou; Nasser Chegini; Jun Wu; Sharon Cresci; Michael A Province; John A Spertus Journal: PLoS One Date: 2008-09-03 Impact factor: 3.240