EGFR mutation of Non-small cell lung cancers (NSCLC) was predominantly seen in Asian population and it was considered as a predictor of responsiveness. Eendothelial nitric oxide synthase (eNOS) plays a vital role in chronic inflammation and carcinogenesis. In this study, we aimed to explore the association between the genetic polymorphisms of (-786T/C and 894 G/T) and EGFR mutation in patients with lung adenocarcinoma. A total of 277 patients with diagnosed lung adenocarcinoma were recruited between years 2012 and 2015. All study subjects underwent the analysis of genetic variants (-786 T/C and 894 G/T) using real-time polymerase chain reaction (PCR) genotyping. Our results showed that, among the 277 patients, variant types (GT + TT) of 894 G/T polymorphism were significantly positively correlated with EGFR mutation type, specifically exon 19 in-frame deletion. With the subgroup of EGFR L858R mutation, variant genotypes (GT + TT) of 894 G/T were significantly associated with lymph node invasion. Moreover, in silico analysis indicated that 894 G/T altered the eNOS expression. In conclusion, our study showed that 894 G/T variants were significantly associated with EGFR mutation types of lung adenocarcinoma, specifically exon 19 in-frame deletion. This may be utilized as a prediction of tumor invasiveness and therapy responsiveness.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036879 | PMC |
http://dx.doi.org/10.7150/jca.25824 | DOI Listing |
Endocrine
August 2024
Department of Diagnostics and Public Health, University of Verona, Verona, Italy.
Purpose: X-linked hypophosphatemia (XLH) is a rare multi-systemic disease characterized by low plasma phosphate levels. The aim of this study was to investigate the annual XLH prevalence and internally evaluate predictive algorithms' application performance for the early diagnosis of XLH.
Methods: The PediaNet database, containing data on more than 400,000 children aged up to 14 years, was used to identify a cohort of XLH patients, which were matched with up to 10 controls by date of birth and gender.
Mutat Res Genet Toxicol Environ Mutagen
March 2024
Division of Pathology, National Institute of Health Sciences, 3-25-26 Tonomachi, Kawasaki-ku, Kawasaki-shi, Kanagawa, 210-9501, Japan; Faculty of Animal Health Technology, Yamzaki University of Animal Health Technology, 4-7-2 Minamiosawa, Hachioji-shi, Tokyo, Japan. Electronic address:
Heliyon
December 2023
Department of Obstetrics and Gynecology, Quanzhou First Hospital Affiliated to Fujian Medical University, No.250 East Street, Quanzhou 362000, Fujian, China.
We explored the effects of the endothelial nitric oxide synthase (eNOS) gene -786 T > C and 894 G > T locus polymorphisms and the methylenetetrahydrofolate reductase (MTHFR) gene 1298 A > C and 677 C > T locus polymorphisms on preeclampsia (PE) in pregnant women in Quanzhou area and provide reliable and stable predictors PE. This study included 160 normal pregnant women (normal control group) and 160 women with preeclampsia (PE group). Polymorphisms in eNOS gene and MTHFR were analyzed by the polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) technique.
View Article and Find Full Text PDFBeyoglu Eye J
August 2022
Department of Ophthalmology, Faculty of Medicine, Mersin University, Mersin, Türkiye.
Objectives: The aim of this study is to investigate the relationship between pseudoexfoliation syndrome (XFS) and pseudoexfoliative glaucoma (XFG) and endothelial nitric oxide synthase (eNOS) G894T polymorphism.
Methods: Seventy-eight eyes of 78 patients who had undergone uncomplicated cataract surgeries for senile cataract were included in this study. Forty patients with XFS were included in the study group, and 38 patients without XFS constituted the control group.
Sci Rep
September 2022
Department of Diagnostics and Public Health, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy.
Acromegaly is a rare disease characterized by an excessive production of growth-hormone and insulin-like growth factor 1, typically resulting from a GH-secreting pituitary adenoma. This study was aimed at comparing and measuring accuracy of newly and previously developed coding algorithms for the identification of acromegaly using Italian claims databases. This study was conducted between January 2015 and December 2018, using data from the claims databases of Caserta Local Health Unit (LHU) and Sicily Region in Southern Italy.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!