Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is a neurodegenerative disease leading to irreversible central vision loss among the elderly in developed countries. While the disease accounts for 9% of all cases of vision loss, the prevalence of AMD is likely to increase due to the exponential aging of the p...

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Main Authors: Guoda Zazeckyte, Greta Gedvilaite, Alvita Vilkeviciute, Loresa Kriauciuniene, Vilma Jurate Balciuniene, Ruta Mockute, Rasa Liutkeviciene
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Life
Subjects:
Online Access:https://www.mdpi.com/2075-1729/12/7/928
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author Guoda Zazeckyte
Greta Gedvilaite
Alvita Vilkeviciute
Loresa Kriauciuniene
Vilma Jurate Balciuniene
Ruta Mockute
Rasa Liutkeviciene
author_facet Guoda Zazeckyte
Greta Gedvilaite
Alvita Vilkeviciute
Loresa Kriauciuniene
Vilma Jurate Balciuniene
Ruta Mockute
Rasa Liutkeviciene
author_sort Guoda Zazeckyte
collection DOAJ
description Age-related macular degeneration (AMD) is a neurodegenerative disease leading to irreversible central vision loss among the elderly in developed countries. While the disease accounts for 9% of all cases of vision loss, the prevalence of AMD is likely to increase due to the exponential aging of the population. Due to this reason, our study aimed to determine the associations of tumor necrosis factor-alpha (<i>TNF-α</i>) gene single-nucleotide polymorphisms (SNPs) TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-α serum concentration with age-related macular degeneration. Analysis of <i>TNF-α</i> rs1800630, rs1800629, and rs361525 polymorphisms showed that the <i>TNF-α</i> rs1800630 A allele was statistically significantly more frequent in the exudative AMD group compared to the control group (<i>p</i> = 0.029). Additionally, the <i>TNF-α</i> rs1800630 A allele was more frequent in females with exudative AMD than in the control group of healthy females (<i>p</i> = 0.027). The <i>TNF-α</i> rs1800630 A allele was more frequent in females with exudative AMD than in females with early AMD (<i>p</i> = 0.014). <i>TNF-α</i> rs1800630, rs1800629, and rs361525 haplotype A-A-G were associated with decreased odds of exudative AMD (<i>p</i> < 0.0001), and haplotype A-G-G was associated with 24-fold increased exudative AMD occurrence (<i>p</i> < 0.0001). TNF-α protein levels were lower in subjects with exudative AMD compared to the control group (<i>p</i> < 0.001). The study showed significant associations between inflammatory cytokine <i>TNF-α</i> single-nucleotide polymorphisms and serum level with AMD pathogenesis. Analysis of <i>TNF-α</i> genotypes and serum concentration may be helpful for the AMD diagnosis.
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spelling doaj.art-12baff6137db498c94d997856e766b8a2023-11-30T21:17:25ZengMDPI AGLife2075-17292022-06-0112792810.3390/life12070928Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular DegenerationGuoda Zazeckyte0Greta Gedvilaite1Alvita Vilkeviciute2Loresa Kriauciuniene3Vilma Jurate Balciuniene4Ruta Mockute5Rasa Liutkeviciene6Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaNeuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaNeuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaNeuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaDepartment of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaMedical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaNeuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu Str. 2, LT-50161 Kaunas, LithuaniaAge-related macular degeneration (AMD) is a neurodegenerative disease leading to irreversible central vision loss among the elderly in developed countries. While the disease accounts for 9% of all cases of vision loss, the prevalence of AMD is likely to increase due to the exponential aging of the population. Due to this reason, our study aimed to determine the associations of tumor necrosis factor-alpha (<i>TNF-α</i>) gene single-nucleotide polymorphisms (SNPs) TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-α serum concentration with age-related macular degeneration. Analysis of <i>TNF-α</i> rs1800630, rs1800629, and rs361525 polymorphisms showed that the <i>TNF-α</i> rs1800630 A allele was statistically significantly more frequent in the exudative AMD group compared to the control group (<i>p</i> = 0.029). Additionally, the <i>TNF-α</i> rs1800630 A allele was more frequent in females with exudative AMD than in the control group of healthy females (<i>p</i> = 0.027). The <i>TNF-α</i> rs1800630 A allele was more frequent in females with exudative AMD than in females with early AMD (<i>p</i> = 0.014). <i>TNF-α</i> rs1800630, rs1800629, and rs361525 haplotype A-A-G were associated with decreased odds of exudative AMD (<i>p</i> < 0.0001), and haplotype A-G-G was associated with 24-fold increased exudative AMD occurrence (<i>p</i> < 0.0001). TNF-α protein levels were lower in subjects with exudative AMD compared to the control group (<i>p</i> < 0.001). The study showed significant associations between inflammatory cytokine <i>TNF-α</i> single-nucleotide polymorphisms and serum level with AMD pathogenesis. Analysis of <i>TNF-α</i> genotypes and serum concentration may be helpful for the AMD diagnosis.https://www.mdpi.com/2075-1729/12/7/928age-related macular degeneration (AMD)-1<i>TNF</i>-<i>α</i>-2rs18006303-3rs1800629-4rs361525-5
spellingShingle Guoda Zazeckyte
Greta Gedvilaite
Alvita Vilkeviciute
Loresa Kriauciuniene
Vilma Jurate Balciuniene
Ruta Mockute
Rasa Liutkeviciene
Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration
Life
age-related macular degeneration (AMD)-1
<i>TNF</i>-<i>α</i>-2
rs18006303-3
rs1800629-4
rs361525-5
title Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration
title_full Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration
title_fullStr Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration
title_full_unstemmed Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration
title_short Associations of Tumor Necrosis Factor-Alpha Gene Polymorphisms <i>(TNF)-α</i> TNF-863A/C (rs1800630), TNF-308A/G (rs1800629), TNF-238A/G (rs361525), and TNF-Alpha Serum Concentration with Age-Related Macular Degeneration
title_sort associations of tumor necrosis factor alpha gene polymorphisms i tnf α i tnf 863a c rs1800630 tnf 308a g rs1800629 tnf 238a g rs361525 and tnf alpha serum concentration with age related macular degeneration
topic age-related macular degeneration (AMD)-1
<i>TNF</i>-<i>α</i>-2
rs18006303-3
rs1800629-4
rs361525-5
url https://www.mdpi.com/2075-1729/12/7/928
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