Objective: To investigate the association between the single nucleotide polymorphisms (SNPs) in NF-E2-related factor 2-617 (NRF2-617) promoter region with the susceptibility to the risk of sepsis.
Methods: In this case-control association study, 203 healthy controls and 174 patients with sepsis in Wenzhou Han population were enrolled and genotyped by DNA direct sequencing.
Results: (1) The (CA+AA) genotype frequency was significantly higher in the sepsis group than in the control group (59.2% vs 46.3%, P = 0.012). (2) Compared with the general sepsis group, higher (CA+AA) genotype frequency was found in the severe sepsis group (47.5% vs 65.5%, P = 0.033) . However, no significant difference was shown in the (CA+AA) genotype frequency between the shock group and the non-shock group as well as between the death group and the non-death group (61.8% vs 57.1%, P = 0.221; 56.8% vs 66.7%, P = 0.258) . (3) The unconditional logistic regression analysis showed that the mutation of C to A at the gene promoter locus of Nrf2-617 was associated with the increased onset risk of sepsis (OR = 1.584, 95%CI 1.025-2.447, P = 0.038) and the severity of sepsis (OR = 0.453, 95%CI 0.233-0.878, P = 0.019).
Conclusion: The mutation of C to A at the gene promoter locus of Nrf2-617 may increase the onset risk of sepsis and organ failure in sepsis patients, while not associated with the incidence of shock and the prognosis of sepsis.
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Eur J Pediatr
December 2024
Department of Pathology, Children's Hospital of Nanjing Medical University, Nanjing, 210008, Jiangsu, China.
Unlabelled: Neuroblastoma, " a malignancy originating from neural crest cells, is most commonly diagnosed in children and adolescents. Polymorphisms within the long noncoding RNA (lncRNA) HOXA distal transcript antisense RNA (HOTTIP) are believed to have the capacity to alter an individual's susceptibility to various cancers. This study aimed to investigate the link between HOTTIP gene polymorphisms and neuroblastoma susceptibility.
View Article and Find Full Text PDFAdv Biomed Res
October 2024
Department Anesthesiology and Critical Care, AJA University of Medical Sciences, Tehran, Iran.
Background: Interleukin-18 (IL-18) is recognized for its pro-inflammatory properties and plays a central role in the progression of rheumatoid arthritis (RA). The specific single-nucleotide polymorphisms (SNPs), rs1946518 (-607C>A) and rs187238 (-137G), that are found in the IL-18 promoter region can potentially impact the expression of the IL-18 gene. This study aimed to investigate the correlation between these two polymorphisms and RA in the Iranian population.
View Article and Find Full Text PDFWiad Lek
December 2024
DEPARTMENT OF CLINICAL LABORATORY SCIENCES, FACULTY OF PHARMACY, UNIVERSITY OF KUFA, KUFA, IRAQ.
Objective: Aim: Our study aimed to investigate the connection between the ABCC8 gene polymorphisms (rs1801261 and rs757110) and T2DM in the Iraqi Middle Euphrates region. Patients with type 2 diabetes were chosen because they were treated with glibenclamide and glimepiride.
Patients And Methods: Materials and Methods: The groups of this case-control study are the control group obviously healthy persons included 400 (235 Male/165 Female) and 400 T2DM group (213 Male/ 187 Female).
Int J Mol Sci
December 2024
District Hospital of Orthopaedics and Trauma Surgery, Bytomska 62, 41-940 Piekary Śląskie, Poland.
The gene encodes the α1 chain of type I collagen, and the data reported so far demonstrate that its polymorphic variants may affect biomechanical properties of bones, muscles, and tendons, and contribute to musculoskeletal disorders. Given, however, limited research on these variants in tendon pathology, we analyzed the impact of polymorphisms on the tendinopathy phenotype and the effectiveness of platelet-rich plasma (PRP) treatment for tennis elbow. Pain perception and therapy outcomes were analyzed from baseline, i.
View Article and Find Full Text PDFInt J Chron Obstruct Pulmon Dis
December 2024
Department of Respiratory and Critical Care Medicine, Hainan Affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou City, Hainan Province, People's Republic of China.
Background: Mutations in ADGRG6 are associated with a variety of cancers and multiple types of diseases. However, the impact of genetic variations in ADGRG6 on chronic obstructive pulmonary disease (COPD) susceptibility has not yet been evaluated.
Methods: Considering the high prevalence of COPD among the elderly population in China, this study specifically targets the elderly Han population in Southern China as the study subject.
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