{"title":"Analysis of interleukin-6 gene polymorphism and its serum levels in Indian age-related macular degeneration patients.","authors":"Anshu Yadav, Jitender Phogat, Manoj Yadav, Aarti Bhardwaj, Ritu Yadav, Manisha Nada, Manish Bhati, Supreme Goel, Rahul Thakur, Rakesh Kumar, Mukesh Tanwar","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Age-related macular degeneration (AMD) is a complex condition involving multiple factors. The condition is associated with numerous inflammatory indicators, including cytokines. Single-nucleotide polymorphisms in cytokine genes can also modify gene expression, perhaps contributing to the development of the disease. The objective of the present study was to examine the correlation among <i>IL-6</i> SNPs (rs1800795, rs1800796, and rs1800797) and the serum levels of IL-6 in AMD patients treated at the Regional Institute of Ophthalmology of Pt. B.D. Sharma PGIMS, Rohtak (Haryana), India.</p><p><strong>Methods: </strong>This case-control study included 131 patients diagnosed with AMD using precise ophthalmic examinations, such as slit lamp examination, fundoscopy, and ocular coherence tomography. To provide a basis for comparison, we also enlisted 100 healthy individuals as controls. Serum IL-6 protein levels were measured in both patients and controls using an enzyme-linked immunosorbent assay kit (ELISA). Genotyping <i>IL-6</i> SNPs was performed using the PCR and DNA Sanger sequencing technique.</p><p><strong>Results: </strong>IL-6 serum levels were considerably elevated in individuals with AMD compared to the control group (<i>p</i> < 0.05). Statistically significant differences were seen in the genotype frequencies of rs1800795 (<i>p</i> = 0.027) and rs1800797 (<i>p</i> = 0.0011) among the AMD patients and the healthy controls. Furthermore, strong correlations were observed between rs1800795 and the likelihood of developing AMD based on the heterozygous (OR = 2.04; <i>p</i> = 0.025), dominant (OR = 1.80; <i>p</i> = 0.035), and over-dominant models (OR = 2.10; <i>p</i> = 0.0094). Additionally, there were notable associations between rs1800797 and vulnerability to AMD through heterozygous (OR = 3.21; <i>p</i> = 0.009), dominant (OR = 2.74; <i>p</i> = 0.004), and over-dominant (OR = 3.11; <i>p</i> = 0.002) models. The rs1800795, rs1800796, and rs1800797 haplotypes C-G-A and G-G-A were linked to an elevated risk of AMD (<i>p</i> = 0.005, <i>p</i> = 0.024. respectively).</p><p><strong>Conclusions: </strong>Our findings indicated a significant elevation in IL-6 serum levels among the AMD patient group compared to the control group. The interleukin-6 gene polymorphisms rs1800795 and rs1800797 were linked to an elevated risk of AMD in our study population.</p>","PeriodicalId":18866,"journal":{"name":"Molecular Vision","volume":"30 ","pages":"434-446"},"PeriodicalIF":1.8000,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829794/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Vision","FirstCategoryId":"3","ListUrlMain":"","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Age-related macular degeneration (AMD) is a complex condition involving multiple factors. The condition is associated with numerous inflammatory indicators, including cytokines. Single-nucleotide polymorphisms in cytokine genes can also modify gene expression, perhaps contributing to the development of the disease. The objective of the present study was to examine the correlation among IL-6 SNPs (rs1800795, rs1800796, and rs1800797) and the serum levels of IL-6 in AMD patients treated at the Regional Institute of Ophthalmology of Pt. B.D. Sharma PGIMS, Rohtak (Haryana), India.
Methods: This case-control study included 131 patients diagnosed with AMD using precise ophthalmic examinations, such as slit lamp examination, fundoscopy, and ocular coherence tomography. To provide a basis for comparison, we also enlisted 100 healthy individuals as controls. Serum IL-6 protein levels were measured in both patients and controls using an enzyme-linked immunosorbent assay kit (ELISA). Genotyping IL-6 SNPs was performed using the PCR and DNA Sanger sequencing technique.
Results: IL-6 serum levels were considerably elevated in individuals with AMD compared to the control group (p < 0.05). Statistically significant differences were seen in the genotype frequencies of rs1800795 (p = 0.027) and rs1800797 (p = 0.0011) among the AMD patients and the healthy controls. Furthermore, strong correlations were observed between rs1800795 and the likelihood of developing AMD based on the heterozygous (OR = 2.04; p = 0.025), dominant (OR = 1.80; p = 0.035), and over-dominant models (OR = 2.10; p = 0.0094). Additionally, there were notable associations between rs1800797 and vulnerability to AMD through heterozygous (OR = 3.21; p = 0.009), dominant (OR = 2.74; p = 0.004), and over-dominant (OR = 3.11; p = 0.002) models. The rs1800795, rs1800796, and rs1800797 haplotypes C-G-A and G-G-A were linked to an elevated risk of AMD (p = 0.005, p = 0.024. respectively).
Conclusions: Our findings indicated a significant elevation in IL-6 serum levels among the AMD patient group compared to the control group. The interleukin-6 gene polymorphisms rs1800795 and rs1800797 were linked to an elevated risk of AMD in our study population.
期刊介绍:
Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical).
Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints.
For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.