Home Medicine Functional polymorphism of lncRNA MALAT1 contributes to pulmonary arterial hypertension susceptibility in Chinese people
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Functional polymorphism of lncRNA MALAT1 contributes to pulmonary arterial hypertension susceptibility in Chinese people

  • Yufeng Zhuo EMAIL logo , Qingchun Zeng , Peng Zhang , Guoyang Li , Qiang Xie and Ying Cheng
Published/Copyright: June 30, 2016
Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 55 Issue 1

Abstract

Background:

The long noncoding RNAs (lncRNAs) have gradually been reported to be an important class of RNAs with pivotal roles in regulation of gene expression, and thus are involved in multitudinous human complex diseases. However, the biological functions and precise mechanisms of the majority of lncRNAs are still poorly understood.

Methods:

In the study, we tested genomic variations in lncRNA-metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) loci, and their potentially functional correlationship with pulmonary arterial hypertension (PAH) susceptibility based on a case-control study with a total of 587 PAH patients and 736 healthy controls in southern Chinese.

Results:

We found that the rs619586A>G single nucleotide polymorphism (SNP) was significantly associated with PAH risk. The carriers with G variant genotypes had a decreased risk of PAH (odds ratio [OR]=0.69, 95% confidence interval [CI]=0.53–0.90, p=0.007) compared to the rs619586AA genotype. Further functional experiments indicated that the alteration from rs619586A to G in MALAT1 could directly upregulate X box-binding protein 1 (XBP1) expression via functioning as the competing endogenous RNA (ceRNA) for miR-214, and consequentially inhibiting the vascular endothelial cells proliferation and migration in vitro by shortening S-M phase transition.

Conclusions:

Taken together, our findings propose that functional polymorphism rs619586A>G in MALAT1 gene plays an important role in PAH pathogenesis and may serve as a potential indicator for PAH susceptibility.

Keywords: genetic variant; MALAT1; pulmonary arterial hypertension; susceptibility
Corresponding author: Dr. Yufeng Zhuo, Department of Cardiology, Panyu Hexian Memorial Hospital, Southern Medical University, 2 Qinghe Road, Panyu District, Guangzhou 511400, P.R. China, Phone: +86-20-39152128, Fax: +86-20-84634164

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: This study was supported by the Scientific Foundation of Science and Technology Department of Guangdong Province, China (grants 2012A030400033).

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Supplemental Material:

The online version of this article (DOI: 10.1515/cclm-2016-0056) offers supplementary material, available to authorized users.

Received: 2016-1-21
Accepted: 2016-5-23
Published Online: 2016-6-30
Published in Print: 2017-1-1

©2017 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/cclm-2016-0056
Keywords for this article
genetic variant; MALAT1; pulmonary arterial hypertension; susceptibility

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Describing children’s changes using clinical chemistry analytes
  4. Review
  5. Assessment of vitamin D status – a changing landscape
  6. Opinion Papers
  7. Order of blood draw: Opinion Paper by the European Federation for Clinical Chemistry and Laboratory Medicine (EFLM) Working Group for the Preanalytical Phase (WG-PRE)
  8. The principles of Health Technology Assessment in laboratory medicine
  9. Genetics and Molecular Diagnostics
  10. Functional polymorphism of lncRNA MALAT1 contributes to pulmonary arterial hypertension susceptibility in Chinese people
  11. General Clinical Chemistry and Laboratory Medicine
  12. Influence of pneumatic tube system transport on routinely assessed and spectrophotometric cerebrospinal fluid parameters
  13. Estimation of hematocrit in filter paper dried bloodspots by potassium measurement: advantage of use of perimeter ring samples over circular center sub-punch samples
  14. Evaluation of the first fully automated immunoassay method for the measurement of stimulating TSH receptor autoantibodies in Graves’ disease
  15. Comparison of four immunoassays to measure serum ferritin concentrations and iron deficiency prevalence among non-pregnant Cambodian women and Congolese children
  16. Activity and expression of dipeptidyl peptidase IV on peripheral blood mononuclear cells in patients with early steroid and disease modifying antirheumatic drugs naïve rheumatoid arthritis
  17. Hematology and Coagulation
  18. Neutrophil CD64 Index as a superior biomarker for early diagnosis of infection in febrile patients in the hematology department
  19. Dilute Russell’s viper venom time reagents in lupus anticoagulant testing: a well-considered choice
  20. Reference Values and Biological Variations
  21. Pediatric reference intervals for alkaline phosphatase
  22. Cancer Diagnostics
  23. Transcript expression and genetic variability analysis of caspases in breast carcinomas suggests CASP9 as the most interesting target
  24. CDH1 (E-cadherin) expression independently affects clinical outcome in acute myeloid leukemia with normal cytogenetics
  25. Cardiovascular Diseases
  26. Association of monocyte to HDL cholesterol level with contrast induced nephropathy in STEMI patients treated with primary PCI
  27. Low concentrations of adropin are associated with endothelial dysfunction as assessed by flow-mediated dilatation in patients with metabolic syndrome
  28. Preoperative serum potassium predicts the clinical outcome after non-cardiac surgery
  29. Diabetes
  30. A simple colorimetric assay for measuring fructosamine 3 kinase activity
  31. Acknowledgment
  32. Acknowledgment
  33. Letters to the Editor
  34. Normalisation issues in glucose measurements using phlebotomy tubes with liquid additives
  35. Utility of dilution tests in investigating interference in the free thyroxine assay
  36. Plasminogen activator inhibitor-1 as a marker of cardiovascular response in professional mountain ultra-marathon runners
  37. Pitfalls of LSD screening assays: comparison of KIMS and CEDIA immunoassays with LC-MS
  38. A two site comparison of two point-of-care activated clotting time systems
  39. Detection of the common South-East Asian β0-thalassemia mutations in samples with borderline HbA2 levels
  40. Biclonal plasma cell myeloma with the simultaneous appearance of both secretory lambda and nonsecretory kappa monoclonal light chains
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