Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms

2005 ◽  
Vol 119 (1-2) ◽  
pp. 61-74 ◽  
Author(s):  
Riddhish Shah ◽  
Brad Rahaman ◽  
Carolyn Katovich Hurley ◽  
Phillip E. Posch
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Regulatory Region ◽  
Allelic Diversity ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals MO040ASSOCIATION OF A TNFSF13B (BAFF) REGULATORY REGION SINGLE NUCLEOTIDE POLYMORPHISMS WITH RESPONSE TO RITUXIMAB IN ANCA-ASSOCIATED VASCULITIS

2016 ◽  
Vol 31 (suppl_1) ◽  
pp. i45-i46
Author(s):  
Federico Alberici ◽  
Rona Smith ◽  
Mariana Fonseca ◽  
Lisa Willcocks ◽  
Rachel Jones ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Regulatory Region ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Anca Associated Vasculitis

scholarly journals Association Analysis of Single Nucleotide Polymorphisms in the 5′ Regulatory Region of the IL-6 Gene with Eimeria tenella Resistance in Jinghai Yellow Chickens

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 890 ◽  
Author(s):  
Hailiang Yu ◽  
Wenbin Zou ◽  
Shijie Xin ◽  
Xiaohui Wang ◽  
Changhao Mi ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Association Analysis ◽  
Direct Sequencing ◽  
Regulatory Region ◽  
Eimeria Tenella ◽  
Least Square ◽  
Bursa Of Fabricius ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Interleukin 6 (IL-6) is an immunoregulatory cytokine involved in various inflammatory and immune responses. To investigate the effects of single nucleotide polymorphisms (SNPs) and haplotypes of IL-6 on resistance to Eimeria tenella (E. tenella), SNPs in the 5′ regulatory region of IL-6 were detected with direct sequencing, and the effects of SNPs and haplotypes on resistance to E. tenella were analyzed by the least square model in Jinghai yellow chickens. Nineteen SNPs were identified in the 5′ regulation region of IL-6, among which three SNPs were newly discovered. The SNP association analysis results showed that nine of the SNPs were significantly associated with E. tenella resistance indexes; the A-483G locus was significantly associated with the GSH-Px, IL-2, and IL-17 indexes (p < 0.05); the C-447G locus was significantly associated with the SOD, GSH-Px, IL-17, and IL-2 indexes (p < 0.05); and the G-357A locus had significant effects on the CAT and IL-16 indexes (p < 0.05). Haplotype analysis showed that H2H3 and H2H5 were favorable haplotype combinations with good coccidium resistance. Furthermore, we used qRT-PCR and observed that the expression of IL-6 in the infection group was higher than that in the control group in the liver, proventriculus, small intestine, thymus, kidney, and bursa of Fabricius and extremely significantly different than that in the cecum especially (p < 0.01). In summary, SNPs and haplotypes in the 5′ regulatory region of IL-6 have important effects on E. tenella resistance, and the results will provide a reference for molecular marker selection of E. tenella resistance in Jinghai yellow chickens.

Nuclear factor erythroid 2-related factor gene variants and susceptibility of arsenic-related skin lesions

2013 ◽  
Vol 33 (6) ◽  
pp. 582-589 ◽  
Author(s):  
EJ Cordova ◽  
OL Valenzuela ◽  
LC Sánchez-Peña ◽  
G Escamilla-Guerrero ◽  
A Hernández-Zavala ◽  
...  
Keyword(s):  
Skin Lesion ◽  
Single Nucleotide Polymorphisms ◽  
Regulatory Region ◽  
Inorganic Arsenic ◽  
Skin Lesions ◽  
Related Factor ◽  
Nuclear Factor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Healthy Donors

Inorganic arsenic (iAs) is an important pollutant associated with various chronic-degenerative diseases. The cytoprotective protein nuclear factor erythroid 2-related factor (NRF2) has been proposed as an important responsive mechanism against iAs exposure. The aim of this study was to determine whether the risk of skin lesions in people exposed to iAs-contaminated water could be modified by the presence of single nucleotide polymorphisms in the NRF2 coding gene. We studied 117 individuals with long-term iAs exposure and 120 nonexposed individuals. Total As was determined in water, meanwhile iAs and its metabolites were measured in urine. The iAs-induced skin lesion status was evaluated by expert dermatologists. We sequenced the promoter region of NRF2 in a sample of 120 healthy donors. We found four polymorphisms previously reported and one novel polymorphism in the 5′ regulatory region of the NRF2. In this study, we did not find allelic and genotype association of NRF2 polymorphisms with iAs-related skin lesion. However, the analysis of haplotypes composed by –653GA, and –617CA NRF2 single nucleotide polymorphisms showed a significant association with protection against skin lesions in the low-As exposure group. This is the first report studying the association between NRF2 polymorphisms and susceptibility of As-related skin lesions. Increasing the sample size will allow us to confirm this data.

Characterization of single-nucleotide polymorphisms relevant to inflammatory bowel disease in commonly used gastrointestinal cell lines

2010 ◽  
Vol 16 (2) ◽  
pp. 282-295 ◽  
Author(s):  
Claudia Huebner ◽  
Ivonne Petermann ◽  
Wen Jiun Lam ◽  
Andrew N. Shelling ◽  
Lynnette R. Ferguson
Keyword(s):  
Inflammatory Bowel Disease ◽  
Single Nucleotide Polymorphisms ◽  
Cell Lines ◽  
Bowel Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Inflammatory Bowel

Functional characterization of two single nucleotide polymorphisms of acyl-coenzyme A:cholesterol acyltransferase 2

Gene ◽  
2015 ◽  
Vol 566 (2) ◽  
pp. 236-241 ◽  
Author(s):  
Xuelian He ◽  
Koon-Yeow Leow ◽  
Hongyuan Yang ◽  
Chew-Kiat Heng
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Functional Characterization ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide
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