Related Experiment Video

Updated: Dec 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.4K

SLC6A4 gene L/S polymorphism and susceptibility to pulmonary arterial hypertension: a meta-analysis

Feng Zhang1, Meiming Yang2, Ting Xiao1

  • 1School of Nursing, Air Force Military Medical University, Xi'an, Shaanxi Province, China.

The Journal of International Medical Research
|September 23, 2020
PubMed

Insights

This meta-analysis found no significant link between the solute carrier family 6 member 4 (SLC6A4) gene L/S polymorphism and pulmonary arterial hypertension (PAH) risk. Further research with larger sample sizes is needed to confirm these findings on PAH genetics.

Area of Science:

  • Genetics
  • Pulmonology
  • Molecular Biology

Background:

  • Pulmonary arterial hypertension (PAH) is a severe disease with complex genetic factors.
  • The solute carrier family 6 member 4 (SLC6A4) gene is a candidate gene for various diseases, but its role in PAH is unclear.

Purpose of the Study:

  • To evaluate the association between the SLC6A4 gene L/S polymorphism and the risk of developing pulmonary arterial hypertension (PAH).

Main Methods:

  • A meta-analysis was conducted using data from eligible case-control studies identified through literature searches.
  • Statistical analysis involved calculating pooled odds ratios (ORs) and 95% confidence intervals (CIs) using STATA® software.

Main Results:

  • Eight studies comprising 1215 cases and 936 controls were included.
  • No statistically significant association was found between the SLC6A4 L/S polymorphism and PAH risk across various genetic models.
  • Subgroup analyses based on study quality and Hardy-Weinberg equilibrium also yielded non-significant results.

Conclusions:

  • The current meta-analysis indicates that the SLC6A4 gene L/S polymorphism is not likely associated with an increased risk of PAH.
  • Additional high-quality studies with larger participant cohorts are necessary to definitively ascertain the genetic contribution of SLC6A4 to PAH.
Abstract

Keywords:
5-hydroxytryptamine transportermeta-analysispulmonary arterial hypertension

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.3K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.0K

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.1K
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
460
Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors01:28

Treatment for Pulmonary Arterial Hypertension: Phosphodiesterase Inhibitors

Phosphodiesterase 5 (PDE5) inhibitors are potent enzymes that function to hydrolyze cyclic nucleotides to their corresponding 5' monophosphates. Their unique biochemical properties have been applied in treating Pulmonary Arterial Hypertension (PAH).
Among the PDE5 inhibitors, sildenafil (Revatio) stands out as a competitive and selective inhibitor. It operates by elevating cellular levels of cGMP and augmenting signaling through the cGMP-PKG pathway, promoting vasodilation. Upon oral...
375