Association of the MMP-9 polymorphism and ischemic stroke risk in southern Chinese Han population

Ning Gao1, Tie Guo2, Han Luo1

  • 1Department of Neurosurgery, Affiliated Haikou Hospital of Xiangya Medical College in Central South University, Haikou, Hainan, 570208, China.

BMC Neurology
|April 18, 2019
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in the MMP-9 gene were investigated for their association with ischemic stroke (IS) risk. The rs3787268 polymorphism was found to increase IS risk in a southern Chinese Han population.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Molecular Biology

Background:

  • Stroke is a leading cause of disability globally.
  • Matrix metalloproteinase-9 (MMP-9) is implicated in cardiovascular disease risk.
  • Understanding genetic predispositions to ischemic stroke (IS) is crucial.

Purpose of the Study:

  • To investigate the association between MMP-9 gene single nucleotide polymorphisms (SNPs) and IS risk.
  • To analyze the rs3787268 polymorphism in a southern Chinese Han population.
  • To explore the role of MMP-9 in IS pathogenesis.

Main Methods:

  • Case-control study with 250 IS patients and 250 healthy controls.
  • Genotyping performed using the Agena MassARRAY system.
  • Statistical analysis included chi-squared tests, genetic models, and logistic regression.

Main Results:

  • The rs3787268 polymorphism showed a significant association with increased IS risk.
  • Specific genotypes (G/A, A/A) and haplotypes (C/G) demonstrated correlations with IS risk.
  • Odds ratios and confidence intervals indicated a heightened risk associated with certain MMP-9 SNP variations.

Conclusions:

  • The rs3787268 locus in the MMP-9 gene is a potential risk factor for IS in the studied population.
  • These findings contribute to understanding the genetic underpinnings of IS.
  • Further research into MMP-9's role in IS pathogenesis is warranted.
Abstract

Related Concept Videos

Conservation of Small Populations02:04

Conservation of Small Populations

Small population sizes put a species at extreme risk of extinction due to a lack of variation, and a consequent decrease in adaptability. This weakens the chances of survival under pressures such as climate change, competition from other species, or new diseases. Large populations are more likely to survive pressures such as these, as such populations are more likely to harbor individuals that have genetic variants that are adaptive under new stresses. Small populations are much less...
16.7K
Southern Blot02:57

Southern Blot

Agarose gel electrophoresis is very useful in separating DNA fragments by size. Running a DNA ladder containing fragments of the known length alongside the sample helps determine the approximate length of the sample DNA fragments. However, additional steps are needed to verify the sequence identity of the sample DNA fragments.
Denatured DNA fragments must be transferred onto a carrier membrane from the gel to make it accessible to a probe - a small ssDNA fragment complementary to the target DNA...
22.7K
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.6K
Population Growth00:57

Population Growth

Population size is dynamic, increasing with birth rates and immigration, and decreasing with death rates and emigration. In ideal conditions with unlimited resources, populations can increase exponentially, which plots as a J-shaped growth rate curve of population size against time. This type of curve is characteristic of newly-introduced invasive species, or populations that have suffered catastrophic declines and are rebounding.
28.2K
Relative Risk01:12

Relative Risk

Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
2.0K
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,...
18.0K