Association of CHUK gene polymorphism and ischemic stroke in the Han Chinese population

Jingyan Huang1, Qiugui Wei2, Baoyun Liang2

  • 1The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, 510120 Guangzhou, Guangdong, China; Guangzhou University of Chinese Medicine, 510405 Guangzhou, Guangdong, China; University at Buffalo, The State University of New York, 14228 Buffalo, NY, USA; Guangxi University of Chinese Medicine, 530299 Nanning, Guangxi, China.

Insights

Component of inhibitor of nuclear factor kappa B kinase complex (CHUK) expression is elevated in ischemic stroke (IS) patients. While CHUK gene variants are not linked to IS risk, they may influence blood pressure and triglyceride levels in IS patients.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Disease Research
  • Neurology

Background:

  • Component of inhibitor of nuclear factor kappa B kinase complex (CHUK) plays a role in lipid levels and blood pressure.
  • Hypertension and hyperlipidemia are established risk factors for ischemic stroke (IS).
  • The direct association between CHUK and IS risk remained unexplored.

Purpose of the Study:

  • To investigate the relationship between CHUK gene polymorphisms (rs3808916, rs2230804, rs3808917) and the risk of ischemic stroke (IS).
  • To evaluate the association of these CHUK polymorphisms with IS-related risk factors, including blood pressure and lipid levels.

Main Methods:

  • Quantitative real-time polymerase chain reaction (qRT-PCR) was used to measure CHUK mRNA expression in 53 IS patients and 53 healthy controls.
  • Genotyping of CHUK polymorphisms (rs3808916, rs2230804, rs3808917) was performed in 816 IS patients and 816 matched healthy controls using Sequenom MassARRAY iPLEX.
  • Haplotype analysis was conducted to assess the combined effect of CHUK polymorphisms.

Main Results:

  • CHUK mRNA expression was significantly higher in IS patients compared to healthy subjects (P < 0.001).
  • No significant association was found between the studied CHUK polymorphisms (rs3808916, rs2230804, rs3808917) and IS susceptibility.
  • CHUK variant rs2230804 showed a relationship with diastolic blood pressure (P = 0.035), and rs3808917 was associated with triglyceride levels (P = 0.046) in IS patients.

Conclusions:

  • Elevated CHUK expression is implicated in the pathogenesis of ischemic stroke.
  • Specific CHUK variants (rs2230804 and rs3808917) may influence diastolic blood pressure and triglyceride levels in individuals with IS.
  • The investigated CHUK polymorphisms (rs3808916, rs2230804, rs3808917) do not appear to be direct risk factors for developing ischemic stroke.
Abstract

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,...
17.2K
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...
14.8K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.3K