scholarly journals Polymorphisms in the Promoter Region of Catalase Gene and Essential Hypertension

2005 ◽  
Vol 21 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Xiao Feng Zhou ◽  
Jing Cui ◽  
Anita L. DeStefano ◽  
Irmarie Chazaro ◽  
Lindsay A. Farrer ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
African Americans ◽  
Promoter Region ◽  
Gene Promoter ◽  
Genetic Variations ◽  
Nucleotide Polymorphisms ◽  
Promoter Regions ◽  
Complex Disorders ◽  
Catalase Gene ◽  
Protein Properties

Genetic variations that predispose individuals to complex disorders, such as essential hypertension, may be found in gene coding regions, intronic regions or in gene promoter regions. Most studies have focused on gene variations that result in amino acid substitutions because they result in different isoforms of the protein, presumably resulting in differences in protein properties. Less attention has been placed on the role of intronic or promoter mutations. In this report, we examined two single nucleotide polymorphisms (SNPs) in the catalase (CAT) gene prompter region in a cohort of hypertensive Caucasians and African Americans with a Mass Spec based Homogenous MassEXTEND assay. We found an association when a specific combination of the two promoter SNPs was examined in Caucasians. No association was observed in African Americans. Our data suggest that genetic variations in the promoter region of catalase gene influence the susceptibility to essential hypertension. In addition, the genetic factors that contribute to hypertension maybe different between ethnic groups.

scholarly journals Functional Haplotypes in the Promoter Region of Transcription FactorNrf2in Chronic Obstructive Pulmonary Disease

2010 ◽  
Vol 28 (3) ◽  
pp. 185-193 ◽  
Author(s):  
Chung-Ching Hua ◽  
Liang-Che Chang ◽  
Jo-Chi Tseng ◽  
Chien-Ming Chu ◽  
Yu-Chih Liu ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Respiratory Failure ◽  
Pulmonary Disease ◽  
Promoter Region ◽  
Gene Promoter ◽  
Chronic Obstructive Lung Disease ◽  
Disease Stage ◽  
Chronic Obstructive ◽  
Nucleotide Polymorphisms ◽  
Obstructive Pulmonary Disease

Nuclear factor (erythroid-derived 2)-like 2 (Nrf2) protects against oxidative stress which is important in the pathogenesis of chronic obstructive pulmonary disease (COPD). Three single nucleotide polymorphisms and 1 triplet repeat polymorphism are found in the promoter region of theNrf2gene. Molecular haplotyping of theNrf2promoter region was performed using DNA obtained from the peripheral blood of 69 COPD patients. The luciferase activities ofNrf2promoter constructs containing all possible combinations of the 4 polymorphisms were determined and found to differ among the 16 haplotypes.The haplotypes isolated from the subjects were divided into 3 groups (L: low; M: medium; H: high) on the basis of luciferase activities. The proportions of subjects belonging to global initiative for chronic obstructive lung disease stage 3 or 4 decreased from the group with the LL haplotype to that with the HH haplotype. Presence of the LH or MM haplotype (hazard ratio, 3.36; 95% confidence interval, 1.16–9.69), gender (0.13; 0.02–0.67), and post-bronchodilator FEV1value of predicted (0.95; 0.91–0.99) are significant predictors of respiratory failure development.The haplotype of theNrf2gene promoter affects its activity, and is associated with the severity and the development of respiratory failure in COPD.

ASSOCIATION OF POLYMORPHISMS IN THE PROMOTER REGION OF THE PNMT GENE WITH ESSENTIAL HYPERTENSION IN AFRICAN AMERICANS BUT NOT IN WHITES

2004 ◽  
Vol 22 (Suppl. 1) ◽  
pp. S179
Author(s):  
Haralambos Gavras ◽  
J. Cui ◽  
X. Zhou ◽  
I. Chazaro ◽  
A DeSefano ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
African Americans ◽  
Promoter Region

Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients

2009 ◽  
Vol 15 (1) ◽  
pp. 124-128 ◽  
Author(s):  
D Otaegui ◽  
O Zuriarrain ◽  
T Castillo-Triviño ◽  
AM Aransay ◽  
J Ruíz-Martinez ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Promoter Region ◽  
Association Studies ◽  
Gene Promoter ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Multiple Sclerosis Susceptibility ◽  
Significant Bias ◽  
Synapsin Iii ◽  
Two Populations

Background Synapsins are a family of neuron-specific phosphoproteins, one of whose subunits is encoded by the SYN3 gene. This gene is located close to one of the multiple sclerosis susceptibility regions (in 22q13.1). Two single-nucleotide polymorphisms (SNPs) (rs133945 and rs133946) in the promoter region of this gene have been proposed as factors protecting against MS. This relationship is not clear because another report failed to found such association. Objectives In an attempt to clarify this association, the frequency of these SNPs was analyzed in a population of 221 Spanish MS patients with a cluster of 72 Basque patients and in 373 controls with a cluster of 138 controls of a Basque origin. Methods The SNis analysis was performed by 9 PCR. Results According to our findings, these SNPs are differently distributed in the two populations. This significant bias should therefore be taken into account in association studies. Our data suggest that the C/C genotype in rs133946 and the G/G genotype in rs133945 could be protecting factors against MS in the Basque population.

scholarly journals Variation in the Promoter Region of the MC4R Gene Elucidates the Association of Body Measurement Traits in Hu Sheep

2019 ◽  
Vol 20 (2) ◽  
pp. 240
Author(s):  
Girmay Shishay ◽  
Guiqiong Liu ◽  
Xunping Jiang ◽  
Yun Yu ◽  
Wassie Teketay ◽  
...  
Keyword(s):  
Promoter Region ◽  
Gene Promoter ◽  
Body Measurement ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Mc4r Gene ◽  
Real Time Quantitative Pcr ◽  
Regulatory Variants ◽  
Significant Difference ◽  
Body Measurement Traits

The melanocortin 4 receptor (MC4R) gene is expressed in the appetite-regulating areas of the brain and is engaged in the leptin signaling pathway. Although previous studies have identified variants in the coding region of the sheep MC4R gene showing significant associations with birth weight, weaning weight, and backfat thickness, no such associations have been reported for the promoter region. Besides, the essential promoter region of the sheep MC4R has not been delineated. In this study, to better understand the transcriptional regulation of MC4R and to elucidate the association between regulatory variants and haplotypes with body measurement traits in sheep, we cloned and characterized the MC4R promoter. We found that the minimal promoter of the gene is located within the region −1207/−880 bp upstream of the first exon. Real-time quantitative PCR (RT-qPCR) data revealed the mRNA expression of the MC4R gene had a significant difference between sex and age. In the association analysis, eight single nucleotide polymorphisms (SNPs) had a significant association with one or more traits (p < 0.05); of these, two SNPs were novel. Notably, individuals with haplotype H1H2 (CT-GA-GT-GA-GT-GA-GA-CG) were heavier in body weight than other haplotypes. Altogether, variations in the MC4R gene promoter, most notably haplotype H1H2, may greatly benefit marker-assisted selection in sheep.

Sign in / Sign up

Export Citation Format

Share Document