Related Experiment Video

Updated: Jun 19, 2025

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.4K

Genetic association of diabetic retinopathy with long noncoding RNA CDKN2B-AS1 gene polymorphism

Yen-Po Yao1,2, Hsiang-Wen Chien3,4,5,6, Kai Wang3,4,5

  • 1Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.

European Journal of Ophthalmology
|July 26, 2024
PubMed
Abstract

Insights

Genetic variations in the CDKN2B-AS1 gene, specifically the rs2151280 polymorphism, increase susceptibility to proliferative diabetic retinopathy (DR). This genetic factor also correlates with poorer kidney function and lower HDL cholesterol in DR patients.

Area of Science:

  • Genetics
  • Ophthalmology
  • Endocrinology

Background:

  • Diabetic retinopathy (DR) is a leading cause of vision loss in diabetic patients.
  • The genetic underpinnings of DR susceptibility require further elucidation.
  • The cyclin dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) gene is a potential candidate for influencing DR risk.

Purpose of the Study:

  • To investigate the association between specific single-nucleotide polymorphisms (SNPs) in the CDKN2B-AS1 gene and the risk of developing diabetic retinopathy.
  • To determine if CDKN2B-AS1 gene polymorphisms influence the progression of DR to its proliferative form.
  • To explore the potential impact of these genetic variations on renal and cardiovascular complications in diabetic patients with DR.

Main Methods:

  • Genotyping of five CDKN2B-AS1 SNPs (rs564398, rs1333048, rs1537373, rs2151280, rs8181047) was performed.
  • A case-control study design was employed, including 280 DR patients and 455 diabetic controls without DR.
  • Statistical analyses, including odds ratios (AOR) and confidence intervals (CI), were used to assess genetic associations.

Main Results:

  • The rs2151280 polymorphism in the CDKN2B-AS1 gene was significantly associated with an increased susceptibility to proliferative DR (AG/GG genotypes; AOR=1.613, p=0.033).
  • This association was more pronounced in individuals with the homozygous GG genotype for rs2151280 (AOR=2.194, p=0.023).
  • DR patients with the rs2151280 polymorphic allele (AG/GG) exhibited lower glomerular filtration rate and HDL cholesterol levels compared to non-polymorphic allele carriers (AA).

Conclusions:

  • Findings suggest that CDKN2B-AS1 gene polymorphisms, particularly rs2151280, play a role in the progression of diabetic retinopathy.
  • The rs2151280 polymorphism may also contribute to renal and cardiovascular complications in diabetic patients.
  • CDKN2B-AS1 gene variations represent a potential genetic marker for DR risk and associated comorbidities.
Keywords:
Cyclin dependent kinase inhibitor 2B antisense RNA 1diabetic retinopathylong non-coding RNAsingle-nucleotide polymorphism

More Related Videos

Author Spotlight: Understanding Retinal Vessel Resilience and Disease Progression04:36

Author Spotlight: Understanding Retinal Vessel Resilience and Disease Progression

Published on: January 12, 2024

1.1K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

Published on: April 4, 2018

33.7K

Related Concept Videos

lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
8.5K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
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%...
17.7K
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,...
14.9K
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...
13.3K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K