Analysis of MIR27A (rs11671784) Variant Association with Systemic Lupus Erythematous

Zenat Ahmed Khired1, Shahad W Kattan2, Ahmad Khuzaim Alzahrani3

  • 1Department of Surgery, College of Medicine, Jazan University, Jazan 45142, Saudi Arabia.

Insights

The MIR27A rs11671784 variant may influence systemic lupus erythematosus (SLE) risk, showing protective effects in heterozygous forms but increased risk with the G/G genotype. This genetic factor is also linked to specific SLE manifestations and blood cell counts.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • MicroRNAs (miRs) play a role in autoimmune diseases like systemic lupus erythematosus (SLE).
  • The miR-27a gene (MIR27A) and its variants are implicated in disease susceptibility and phenotype.
  • Understanding genetic associations is crucial for unraveling SLE pathogenesis.

Purpose of the Study:

  • To investigate the association between the MIR27A rs11671784G/A variant and the risk and severity of SLE.
  • To determine the genotype frequencies in SLE patients and healthy controls.
  • To explore correlations between the variant and clinical manifestations or laboratory findings in SLE patients.

Main Methods:

  • Genotyping of 163 adult SLE patients and matched controls using a TaqMan allelic discrimination assay for the MIR27A rs11671784 variant.
  • Logistic regression models were employed to analyze the association with SLE susceptibility and risk.
  • Statistical analysis was performed to assess correlations with clinical features and blood cell counts.

Main Results:

  • The heterozygote genotype (G/A) was the most common in the study cohort (72%).
  • The MIR27A rs11671784 variant demonstrated a protective effect against SLE development in heterozygous, dominant, and overdominant models.
  • Conversely, the G/G genotype was linked to increased SLE risk in the recessive model (OR = 17.34).
  • The variant was significantly associated with musculoskeletal and mucocutaneous manifestations (p=0.035, p=0.009) and altered platelet and white blood cell counts (p=0.034, p=0.049).

Conclusions:

  • The MIR27A rs11671784 variant shows a significant association with SLE susceptibility and risk in the studied population.
  • The G/G genotype appears to confer higher risk, while heterozygous forms may be protective.
  • Further large-scale, multiethnic studies are recommended to validate these findings and their clinical implications.

Related Concept Videos

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...
13.7K
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,...
15.4K
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%...
17.8K