To explore the association between five polymorphisms in endoplasmic reticulum associated aminopeptidase 1 (ERAP1) gene and risk of ankylosing spondylitis (AS) in a Chinese population. A case-control study enrolled 250 AS patients and 250 healthy controls was carried out. The genotypes of involved polymorphisms (rs27037, rs27038, rs469876, rs27044 and rs27980) in ERAP1 were detected by Sequenom Mass-Array platform. There were significant differences of the level of WBC (white blood cell), Platelets, CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) between AS patients and controls (P<0.05). There was statistically association between ERAP1 rs27044 polymorphism and risk of AS, and the carriers with rs27044 CG genotype have an increased the risk for AS (CG versus GG, OR=1.70, 95% CI=1.10-2.62, P=0.015). However, we found no evidence for the association of rs27037, rs469876, and rs27980 polymorphisms in ERAP1 with AS risk. Our findings indicated that ERAP1 rs27044 polymorphism was associated with the susceptibility of AS.
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http://dx.doi.org/10.1016/j.gene.2017.12.050 | DOI Listing |
World J Gastrointest Oncol
January 2025
Department of Thoracic Surgery, Zhongshan Hospital Affiliated to Fudan University, Shanghai 200032, China.
Background: Transforming growth factor-β (TGF-β) superfamily plays an important role in tumor progression and metastasis. Activin A receptor type 1C (ACVR1C) is a TGF-β type I receptor that is involved in tumorigenesis through binding to different ligands.
Aim: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.
World J Gastrointest Oncol
January 2025
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples 80131, Campania, Italy.
Background: Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase (DPD), encoded by the gene. About 7% of the European population is a carrier of gene polymorphisms associated with reduced DPD enzyme activity.
Aim: To assess the prevalence of polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.
JACC Adv
December 2024
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Plant-based dietary patterns are becoming increasingly popular due to environmental and health impacts, yet there are few studies exploring the relationship between plant-based dietary patterns and venous thromboembolism (VTE) in different genetic backgrounds.
Objectives: The aim of this study was to investigate how plant-based dietary pattern and genetic susceptibility independently or jointly affect VTE and its subtypes of pulmonary embolism and deep vein thrombosis.
Methods: A total of 183,510 participants who were White British ethnicity background and free of VTE at baseline in the UK Biobank were recruited, in consideration that the selection of genetic variants for VTE was based on results of White European individuals.
Front Parasitol
December 2023
Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Reticulocyte Binding Protein Homologue (RH5), a leading malaria vaccine candidate, is essential for erythrocyte invasion by the parasite, interacting with the human host receptor, basigin. RH5 has a small number of polymorphisms relative to other blood-stage antigens, and studies have shown that vaccine-induced antibodies raised against RH5 are strain-transcending, however most studies investigating RH5 diversity have been done in Africa. Understanding the genetic diversity and evolution of malaria antigens in other regions is important for their validation as vaccine candidates.
View Article and Find Full Text PDFHeliyon
July 2024
School of Petroleum Engineering, Chongqing University of Science & Technology, Chongqing, 401331, China.
City gas stations (CGSs) play a crucial role in ensuring a stable and safe supply of natural gas to urban users. However, as the service time of stations increases and the performance of components deteriorates, concerns about the safety and reliability of these station have grown among operators and local government authorities. This paper proposes a fuzzy reliability assessment methodology for CGSs that considers the polymorphism of component faults and the uncertainties associated with fault relationships, failure probabilities, and fault magnitudes.
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