Identification of genetic variants in MTHFD1 associated with risk of hypertension.

Background: MTHFD1, involved in folate metabolism, has been associated with various health outcomes, including cardiovascular diseases. This study aimed to investigate the association between four single nucleotide polymorphisms (SNPs) in MTHFD1 and the risk of hypertension.

Methods: We conducted a case-control study involving 838 hypertensive patients and 438 controls.

Variants of and were related to endometrial cancer risk in the Chinese population.

Objectives: Krüppel‑like factors (KLFs) are implicated in the progression of endometrial cancer (EC). This present study explored the correlation between variants of KLF5, KLF12 and EC risk in the Chinese population.

Methods: The Agena MassARRAY technology platform was utilized to genotype six single nucleotide polymorphisms (SNPs) in KLF5 and KLF12 genes among 509 women diagnosed with EC and 506 age-matched healthy women.

Impact of rs7554283 on susceptibility to high-altitude pulmonary edema in the Chinese population.

MIR137 host gene (MIR137HG) variants were involved in a variety of diseases, but its role in high-altitude pulmonary edema (HAPE) has not been reported. The study aimed to study the association between MIR137HG single-nucleotide polymorphisms and HAPE risk in the Chinese population. Based on the Plink software, odds ratio and 95% confidence interval were used for logistic regression analysis to evaluate the association between MIR137HG polymorphisms and the risk of HAPE.

polymorphisms and bladder cancer risk in the Chinese Han population.

Background: The expression of has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in and bladder cancer risk, as no prior research has addressed this association.

Research Design And Methods: We selected and genotyped five SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system.

Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease.

One of the causes of coronary heart disease (CHD) is genetic factors. In this study, we explored the relationship between CYP2D7 and TCF20 gene polymorphisms and the risk of CHD in the Han Chinese population. Three single nucleotide polymorphisms (CYP2D7 rs1800754, CYP2D7 rs2743461, and TCF20 rs760648) were selected and genotyped from 490 cases and 480 controls.

Association of NID2 SNPs with Glioma Risk and Prognosis in the Chinese Population.

Glioma is the most common primary intracranial tumor with high mortality and poor prognosis. The purpose of this study was to investigate how single-nucleotide polymorphisms (SNPs) of the NID2 gene affect glioma risk and prognosis. Four candidate SNPs of NID2 in 529 glioma patients and 478 healthy controls were successfully genotyped by Agena MassARRAY mass spectrometer.

Novel insight into the genetic signatures of altitude adaptation related body composition in Tibetans.

Background: The Tibetan population residing in high-altitude (HA) regions has adapted to extreme hypoxic environments. However, there is limited understanding of the genetic basis of body compositions in Tibetan population adapted to HA.

Methods: We performed a genome-wide association study (GWAS) to identify genetic variants associated with HA and HA-related body composition traits.

DPF3 polymorphisms increased the risk of pulmonary tuberculosis in the Northwest Chinese Han population.

Purpose: This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) in DPF3 and susceptibility to pulmonary tuberculosis (PTB) in the Northwest Chinese Han population.

Methods: Genotyping of four DPF3 SNPs (rs10140566, rs75575287, rs202075571, and rs61986330) was performed using Agena MassARRAY from 488 PTB patients and 488 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression.

Association between polymorphisms and breast cancer risk.

Background: Breast cancer (BC) is the leading cause of cancer death among women worldwide. The nudix hydrolase 17 (NUDT17) may play notable roles in cancer growth and metastasis. In this study, we explored the importance of NUDT17 gene polymorphism in patients with BC.

Association Between CYP24A1 Polymorphisms and Bladder Cancer Risk in the Chinese Han Population.

In this cohort of 217 bladder cancer patients and 484 healthy controls, we explored the association between CYP24A1 variants (rs2762934, rs1570669, rs6068816, rs2296241) and bladder cancer risk in the Chinese Han population. Utilizing the Agena MassARRAY system, we genotyped four selected CYP24A1 polymorphisms. Logistic regression revealed a significant association of rs2762934 and rs1570669 with elevated bladder cancer risk, while rs6068816 exhibited a protective effect.

The construction of a novel prognostic prediction model for glioma based on GWAS-identified prognostic-related risk loci.

Backgrounds: Glioma is a highly malignant brain tumor with a grim prognosis. Genetic factors play a role in glioma development. While some susceptibility loci associated with glioma have been identified, the risk loci associated with prognosis have received less attention.

Long noncoding RNA ANRIL alleviates hypoxia-induced pulmonary microvascular endothelial cell damage.

Background: High-altitude pulmonary oedema (HAPE) is a form of noncardiogenic pulmonary oedema. Studies have found that long noncoding RNA (lncRNA) plays an important role in HAPE. ANRIL is significant in pulmonary illnesses, which implies that alterations in ANRIL expression levels may be involved in the beginning and development of HAPE.

Very important pharmacogenetic variants landscape and potential clinical relevance in the Zhuang population from Yunnan province.

The gradual evolution of pharmacogenomics has shed light on the genetic basis for inter-individual drug response variations across diverse populations. This study aimed to identify pharmacogenomic variants that differ in Zhuang population compared with other populations and investigate their potential clinical relevance in gene-drug and genotypic-phenotypic associations. A total of 48 variants from 24 genes were genotyped in 200 Zhuang subjects using the Agena MassARRAY platform.

polymorphisms affect thyroid cancer risk in the Chinese Han population.

Objectives: This study aimed to detect the correlation between polymorphisms and Thyroid cancer (TC) risk in the Chinese Han population.

Methods: We genotyped variants in 510 TC patients and 509 controls using Agena MassARRAY. We assessed the association between polymorphisms and TC susceptibility, with the significant results evaluated through FPRP analysis.

Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing.

Introduction: Ventricular septal defect (VSD) is the most common congenital heart malformation in children. This study aimed to investigate potential pathogenic genes associated with Tibetan familial VSD.

Methods: Whole genomic DNA was extracted from eight Tibetan children with VSD and their healthy parents (a total of 16 individuals).

Effects of CASZ1, WNT2B and PTPRG SNPs on stroke susceptibility in the Chinese Han population.

Background: Stroke is an important cause of death and disability worldwide, ranking second in the cause of death, and it is thought to be related to genetic factors. The purpose of our study is to investigate the association between CASZ1, WNT2B and PTPRG single nucleotide polymorphisms (SNPs) and stroke risk in the Chinese population.

Methods: We recruited 1418 volunteers, comprised of 710 stroke cases and 708 controls in this study.

Impact of missense TSBP1 variants on the susceptibility to coronary heart disease.

Background: A genome-wide association study has recognized C6orf10-BTNL2 polymorphism in coronary artery disease. The goal of this study was to explore the potential correlation of nine missense TSBP1 variants with coronary heart disease (CHD) risk in the Chinese Han population.

Methods: Nine TSBP1 missense single nucleotide polymorphisms (SNPs) were selected for genotyping by the Agena MassARRAY platform.

Regulates the Proliferation, Migration, Invasion, and Cell Cycle of Breast Cancer Cells via the JAK2/STAT3 Signaling Axis.

The aim of this study was to discover new biomarkers to detect breast cancer (BC), which is an aggressive cancer with a high mortality rate. In this study, bioinformatic analyses (differential analysis, weighted gene co-expression network analysis, and machine learning) were performed to identify potential candidate genes for BC to study their molecular mechanisms. Furthermore, Quantitative Real-time PCR and immunohistochemistry assays were used to examine the protein and mRNA expression levels of a particular candidate gene ().

Pan-Cancer Analysis of the Prognostic and Immunological Role of SMG5: A Biomarker for Cancers.

Introduction: SMG5 is involved in tumor cell development and viewed as a potential target for immunotherapy. The purpose of this study was to systematically analyze the expression level, function, and prognostic value of SMG5 in pan-cancers.

Methods: Differential expression of SMG5 in normal and tumor tissues was analyzed using The Cancer Genome Atlas (TCGA) and the Genotype-Tissue Expression Database (GTEx) data.

HEATR3 involved in the cell proliferation, metastasis and cell cycle development of bladder cancer acts as a tumor suppressor.

The study was designed to detect the expression and clinical significance of the HEATR3 gene in bladder cancer (BCa) and to preliminarily explore whether this gene can affect the occurrence and development of BCa through the AKT/ERK signaling pathway. The expression and prognostic value of HEATR3 were explored based on The Cancer Genome Atlas (TCGA) and Genotypic Tissue Expression (GTEx) databases. Microarray immunohistochemical analysis was performed in 30 BCa cases to investigate the level of HEATR3 protein and to explore the relationship between HEATR3 and the clinicopathological features of BCa.