SNP VARIANTS OF IL-27 GENE AS GENOMIC PREDICTORS AGAINST EFFECTIVENESS OF VITAMIN-D THERAPY IN COPD PATIENTS
نویسندگان
چکیده
TOPIC: Genetic and Developmental Disorders TYPE: Original Investigations PURPOSE: rs153109 is an intron variant of IL-27. Recent studies has reported that it significantly associated with asthma disease It’s mutant “C” allele modulates the normal functionality Vitamin D Receptor (VDR) motif in COPD patients. As less likely this independently involved altered VDR gene, therefore we proposed to identify nearby genomic variants linkage disequilibrium (LD) may synergistically modulate VDR. METHODS: screened SNV 1000Genomes:Phase-3:PJL (Punjabi Lahore-Pakistan) about 09kb up down stream very strong LD (r2>0.97). These were further analyzed HaploReg V.4.1 for functional annotation prediction. RESULTS: Three IL-27 (rs26528, rs240708, rs24707) Punjabi-Population Lahore-Pakistan. All these are variants, however predicted alleles three alter function regulatory motifs as rs26528 “PPAR, RXRA, Zfp691”, rs240708 “SZF1-1, Spz1, ZBTB33” rs24707 “Egr-1 PLAG1” motifs. Some regulation inflammatory pathways. CONCLUSIONS: rs26528, co-inherit Panjabi-Population(PJL) have synergistic effect on CLINICAL IMPLICATIONS: gene’s profiling patients help design D’s therapy DISCLOSURES: No relevant relationships by Muhammad Akram, source=Web Response burhan anwar, Bilal Anwar, Usman Ghani, Farooq Sabar, MARIAM SHAHID,
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چکیده ندارد.
15 صفحه اولVitamin D deficiency is highly prevalent in COPD and correlates with variants in the vitamin D-binding gene.
INTRODUCTION Vitamin D deficiency has been associated with many chronic illnesses, but little is known about its relationship with chronic obstructive pulmonary disease (COPD). OBJECTIVES Serum 25-hydroxyvitamin D (25-OHD) levels were measured in 414 (ex)-smokers older than 50 years and the link between vitamin D status and presence of COPD was assessed. The rs7041 and rs4588 variants in the ...
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ژورنال
عنوان ژورنال: Chest
سال: 2021
ISSN: ['0012-3692', '1931-3543']
DOI: https://doi.org/10.1016/j.chest.2021.07.1329