4.6 Article

Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population

期刊

PLOS ONE
卷 9, 期 8, 页码 -

出版社

PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0105844

关键词

-

资金

  1. National Natural Science Foundation of China [81260130, 81060234, 30945204, 30360124, 30260110]
  2. Key Program and University Talents Highland Innovation Team of Guangxi [2012012D003, GJR201147-09]
  3. Chairman Science and Technology Fund and Tackle Program of Guangxi [1116-03, GKG1298003-07-01]
  4. Guangxi Science Fund for Distinguished Young Scholars [2012GXNSFFA060009]
  5. Guangxi Natural Science Foundation [2012GXNSFDA053016]
  6. Guangxi Graduate Education Innovation Program [2010105981002M175, 2011105981002M202]
  7. Guangxi Provincial Department of Finance and Education [2009GJCJ150]

向作者/读者索取更多资源

Only a small proportion of genetic variation in serum ferritin has been explained by variant genetic studies, and genome-wide association study (GWAS) for serum ferritin has not been investigated widely in Chinese population. We aimed at exploring the novel genetic susceptibility to serum ferritin, and performed this two stage GWAS in a healthy Chinese population of 3,495 men aged 20-69 y, including 1,999 unrelated subjects in the first stage and 1,496 independent individuals in the second stage. Serum ferritin was measured with electrochemiluminescence immunoassay, and DNA samples were collected for genotyping. A total of 1,940,243 SNPs were tested by using multivariate linear regression analysis. After adjusting for population stratification, age and BMI, the rs5742933 located in the 5'UTR region of PMS1 gene on chromosome 2 was the most significantly associated with ferritin concentrations (P-combined = 2.329x10(-10)) (beta = -0.11, 95% CI: -0.14, -0.07). Moreover, this marker was about 200kb away from the candidate gene SLC40A1 which is responsible for iron export. PMS1 gene was the novel genetic susceptibility to serum ferritin in Chinese males and its relation to SLC40A1 needs further study.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.6
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Biochemistry & Molecular Biology

Associations Between Serum Multiple Metals Exposures and Metabolic Syndrome: a Longitudinal Cohort Study

Xiuming Feng, Longman Li, Lulu Huang, Haiying Zhang, Zengnan Mo, Xiaobo Yang

Summary: The study found that tin and zinc levels in men in southern China are independently and interactively associated with metabolic syndrome. High tin and zinc may be risk factors for metabolic syndrome.

BIOLOGICAL TRACE ELEMENT RESEARCH (2021)

Article Urology & Nephrology

Adiponectin affects estimated glomerular filtration rate: A two-sample bidirectional Mendelian randomization study

Yulan Bai, Zefeng Chen, Zheng Wen, Xinyang Long, Zengnan Mo, Jianfeng Xu

Summary: This study found that adiponectin has a causal effect on estimated glomerular filtration rate (eGFR), but eGFR has no causal effect on adiponectin. This suggests that adiponectin may be a potential clinical target for improving kidney function and treating chronic kidney disease.

NEPHROLOGY (2021)

Article Oncology

Single-Cell RNA-seq Identification of the Cellular Molecular Characteristics of Sporadic Bilateral Clear Cell Renal Cell Carcinoma

Zhenyuan Yu, Wenhao Lu, Cheng Su, Yufang Lv, Yu Ye, Bingqian Guo, Deyun Liu, Haibiao Yan, Hua Mi, Tianyu Li, Qingyun Zhang, Jiwen Cheng, Zengnan Mo

Summary: The study on bilateral RCC using single-cell RNA sequencing revealed the gene expression characteristics of bilateral RCC cells and significant differences in gene expression among different site tumour cells. This work provides insights for the diagnosis and treatment of bilateral RCC.

FRONTIERS IN ONCOLOGY (2021)

Article Andrology

Female chronic posterior urethritis is underestimated in patients with lower urinary tract symptoms

Juanjuan Xie, Xin Li, Yufan Lu, Caishen Huang, Xinyan Long, Yong Liu, Huaxiang Lu, Jianhua Long, Bo Chen, Zhigang Luo, Zengnan Mo

Summary: Female chronic posterior urethritis is often misdiagnosed as other conditions, but its diagnosis and treatment are crucial for alleviating urethral symptoms. Transurethral electroresection is an effective and safe approach in treating female chronic posterior urethritis, with a high success rate and minimal complications.

TRANSLATIONAL ANDROLOGY AND UROLOGY (2021)

Article Andrology

KCNN4 is a potential prognostic marker and critical factor affecting the immune status of the tumor microenvironment in kidney renal clear cell carcinoma

Shaohua Chen, Chengbang Wang, Xiaotao Su, Xiaodi Dai, Songheng Li, Zengnan Mo

Summary: The study revealed a negative correlation between ImmuneScore and patient prognosis, indicating the importance of immune cells in the tumor microenvironment. Through intersection analysis, 118 immune-related genes were identified, with 6 critical genes used to build a prognostic model for KIRC. KCNN4 was identified as the most critical gene affecting KIRC prognosis, with further analysis showing its impact on the TME immune status and potential as a prognostic marker.

TRANSLATIONAL ANDROLOGY AND UROLOGY (2021)

Article Biochemistry & Molecular Biology

Waist-to-height ratio, an optimal anthropometric indicator for metabolic dysfunction associated fatty liver disease in the Western Chinese male population

Jinwei Cai, Cuiting Lin, Shuiqing Lai, Yingshan Liu, Min Liang, Yingfen Qin, Xinghuan Liang, Aihua Tan, Yong Gao, Zheng Lu, Chunlei Wu, Shengzhu Huang, Xiaobo Yang, Haiying Zhang, Jian Kuang, Zengnan Mo

Summary: All anthropometric indicators were significantly associated with MAFLD, with LAP having the highest AUC. WHtR was identified as the strongest predictor of MAFLD in young Chinese males, followed by LAP and AVI. The strongest association was found between LAP and sex hormones.

LIPIDS IN HEALTH AND DISEASE (2021)

Article Microbiology

Emerging Severe Acute Respiratory Syndrome Coronavirus 2 Mutation Hotspots Associated With Clinical Outcomes and Transmission

Xianwu Pang, Pu Li, Lifeng Zhang, Lusheng Que, Min Dong, Bo Xie, Qihui Wang, Yinfeng Wei, Xing Xie, Lanxiang Li, Chunyue Yin, Liuchun Wei, Kexin Huang, Yiming Hua, Qingniao Zhou, Yingfang Li, Lei Yu, Weidong Li, Zengnan Mo, Maosheng Zhang, Jing Leng, Yanling Hu

Summary: Mutations in the SARS-CoV-2 genome are directly associated with clinical outcomes and pandemic, with mutations more likely to occur in mild and severe cases. Mutations associated with asymptomatic cases are mainly found in open reading frame 1ab (ORF1ab) and N genes, while mutations in mild and severe cases are more prevalent.

FRONTIERS IN MICROBIOLOGY (2021)

Article Oncology

Myelin and lymphocyte protein serves as a prognostic biomarker and is closely associated with the tumor microenvironment in the nephroblastoma

Cheng Su, Rongzhi Huang, Zhenyuan Yu, Jie Zheng, Fengling Liu, Haiqi Liang, Zengnan Mo

Summary: Nephroblastoma, also known as Wilms' tumor, is the most common renal tumor in children. Despite improvements in treatment efficacy, some patients still have poor prognosis. The study suggests that MAL may serve as a potential prognostic factor for nephroblastoma and is closely related to the tumor microenvironment.

CANCER MEDICINE (2022)

Article Oncology

Single-Cell Proteomic Analysis Dissects the Complexity of Tumor Microenvironment in Muscle Invasive Bladder Cancer

Chao Feng, Xi Wang, Yuting Tao, Yuanliang Xie, Zhiyong Lai, Zhijian Li, Jiaxin Hu, Shaomei Tang, Lixin Pan, Liangyu He, Qiuyan Wang, Tianyu Li, Zengnan Mo

Summary: Muscle invasive bladder cancer (MIBC) is a malignancy with significant heterogeneity. The MIBC tumor microenvironment (TME) is highly complex, comprising diverse phenotypes and spatial architectures. This study used a combination of mass cytometry and imaging mass cytometry to analyze the complexity of the MIBC TME at the single-cell level. The identification of abnormal cell clusters and spatial characteristics provides valuable insights for potential targeted therapies in MIBC patients.

CANCERS (2021)

Article Oncology

Single-Cell RNA Sequencing in Multiple Pathologic Types of Renal Cell Carcinoma Revealed Novel Potential Tumor-Specific Markers

Cheng Su, Yufang Lv, Wenhao Lu, Zhenyuan Yu, Yu Ye, Bingqian Guo, Deyun Liu, Haibiao Yan, Tianyu Li, Qingyun Zhang, Jiwen Cheng, Zengnan Mo

Summary: This study identified new tumor-specific markers for different pathological types of RCC using single-cell transcriptome sequencing, as well as characterized different types of endothelial cells and their association with fibroblasts in ccRCC and type 2 pRCC. Furthermore, drug target pathway activation and drug response sensitivity were predicted in different pathological types of RCC based on scRNA-seq results.

FRONTIERS IN ONCOLOGY (2021)

Article Multidisciplinary Sciences

MR-PheWAS for the causal effects of serum magnesium on multiple disease outcomes in Caucasian descent

Longman Li, Wenjun Yang, Lulu Huang, Xiuming Feng, Hong Cheng, Xiaoting Ge, Gaohui Zan, Yanli Tan, Lili Xiao, Chaoqun Liu, Xing Chen, Zengnan Mo, Xiaobo Yamg

Summary: Magnesium plays a crucial role in physiological processes, and variations in serum magnesium levels can have significant implications for health. The study found causal relationships between serum magnesium levels and multiple disease outcomes, as well as gender-specific effects on disease outcomes. Additionally, the study identified potential new disease outcomes related to serum magnesium levels.

ISCIENCE (2021)

Article Environmental Sciences

Association of both prenatal and early childhood multiple metals exposure with neurodevelopment in infant: A prospective cohort study

Chaoqun Liu, Lulu Huang, Shengzhu Huang, Luyun Wei, Dehao Cao, Gaohui Zan, Yanli Tan, Sida Wang, Minjing Yang, Long Tian, Weijun Tang, Caitong He, Chunhua Shen, Bangzhu Luo, Maoling Zhu, Tao Liang, Baohong Pang, Mujun Li, Zengnan Mo, Xiaobo Yang

Summary: This study systematically assessed the associations between metals exposure during pregnancy and childhood and neurodevelopment in children aged 2-3 years. The results showed that prenatal aluminum and cadmium exposure were negatively associated with neurodevelopmental outcomes. The study also revealed that infants of different sexes had different sensitivities to metal exposure, and metal exposure during the first and second trimester had a more significant impact on neurobehavioral development.

ENVIRONMENTAL RESEARCH (2022)

Article Oncology

Urinary exosomal prostate-specific antigen is a noninvasive biomarker to detect prostate cancer: Not only old wine in new bottles

Chunmeng Wei, Xi Chen, Jin Ji, Yalong Xu, Xing He, Huiyong Zhang, Zengnan Mo, Fubo Wang

Summary: The study evaluated the performance of urinary exosomal prostate-specific antigen (UE-PSA) in predicting the results of initial prostate biopsies and distinguishing clinically significant prostate cancer. The results showed that UE-PSA had high accuracy and clinical value in predicting and distinguishing prostate cancer, making it a promising noninvasive biomarker to improve prostate cancer detection.

INTERNATIONAL JOURNAL OF CANCER (2023)

Article Oncology

A gene signature of cancer-associated fibroblasts predicts prognosis and treatment response in bladder cancer

Xi Chen, Chunyan Liao, Xiong Zou, Bei Zhang, Zengnan Mo

Summary: This study aimed to develop a signature of cancer-associated fibroblasts (CAFs)-related genes (CRGs) to predict the survival outcomes and treatment response of bladder cancer (BLCA). Weighted gene co-expression network analysis was utilized to uncover CAFs-associated hub genes, and a risk model for survival prognosis was constructed using LASSO-Cox regression. The findings suggest that the CRG signature offers new avenues for the prognosis evaluation and development of personalized treatment strategies for BLCA.

CLINICAL & TRANSLATIONAL ONCOLOGY (2023)

Article Oncology

Clinical Value of Postoperative Neutrophil-to-Lymphocyte Ratio Change as a Detection Marker of Bladder Cancer Recurrence

Qingyun Zhang, Qinqiao Lai, Shan Wang, Qinggui Meng, Zengnan Mo

Summary: The dynamic change of postoperative NLR is a potential marker for the early detection of bladder cancer recurrence. Patients with increased NLR after surgery tend to have higher risk of recurrence.

CANCER MANAGEMENT AND RESEARCH (2021)

暂无数据