The haplotype of the <i>CDKN2B-AS1</i> gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia

Eliseeva, Natalya; Ponomarenko, Irina; Reshetnikov, Evgeny; Dvornyk, Volodymyr; Churnosov, Mikhail

doi:10.1080/13816810.2021.1955275

Cited by 19 publications

(16 citation statements)

References 64 publications

(84 reference statements)

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“…The results of the present study along with our previous report 25 suggest that the MMP9 gene may be one of the syntropic genes for POAG and PXFG. The other genes manifesting the syntropic effect for these diseases are CDKN2B-AS1 70,71 and LOXL1. [72][73][74][75] One limitation of this study should be acknowledged though.…”

Section: Discussionmentioning

confidence: 99%

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Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia

Ponomarenko

Reshetnikov

Dvornyk

et al. 2022

European Journal of Ophthalmology

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Purpose The aim of this study was to investigate the role of functionally significant loci of the matrix metalloproteinases genes 1, 3, 9 ( MMP1, MMP3, and MMP9) in the development of primary open-angle glaucoma (POAG) in Caucasians of the Central region of Russia. Methods In total 604 participants were recruited for the study, including 208 patients with POAG and 396 healthy controls. They were genotyped at eight single nucleotide polymorphisms (SNPs) of the three MMP genes. The association was analyzed using logistic and log-linear regression. POAG-associated loci and their proxies were in silico assessed for their functional prediction. Results Variant allele G*rs2250889 of MMP9 was significantly associated with higher risk of POAG (ORcov = 1.57–1.71). Haplotype CCA [rs3918242-rs3918249-rs17576] of the MMP9 gene was associated with lower risk of POAG (ORcov = 0.33). Allele А*rs3787268 of MMP9 was associated with the low intraocular pressure in the POAG patients (βcov = −0.176 - −0.272), and so were haplotypes AA [rs17576-rs3787268] (βcov = −0.577) and AAC [rs17576-rs3787268- rs2250889] (βcov = −0.742) of the same gene, whereas allele 2G*rs1799750 of MMP1 was associated with the earlier onset of the disease (βcov = −0.112 - −0.218). In silico analysis of the polymorphisms suggested the functionality of POAG-associated SNPs and their proxies (epigenetic potential, expression and alternative splicing effects for several genes). Conclusions The MMP9 gene polymorphisms are associated with POAG and intraocular pressure in POAG patients; rs1799750 of MMP1 was associated with the earlier age of manifestation of the disease symptoms.

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Section: Discussionmentioning

confidence: 99%

“…The other genes manifesting the syntropic effect for these diseases are CDKN2B-AS1 70,71 and LOXL1. [72][73][74][75] One limitation of this study should be acknowledged though. Similar to other association studies, it did not analyze both gene and protein expression.…”

Section: Discussionmentioning

confidence: 99%

Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia

Ponomarenko

Reshetnikov

Dvornyk

et al. 2022

European Journal of Ophthalmology

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“…SNP genotyping was performed using the MALDI-TOF mass spectrometry iPLEX platform (Agena Bioscience Inc., San Diego, CA, USA). For the quality control, about 5% of the samples were selected randomly and subjected to the repeatability test [ 37 , 38 ] that yielded 100% reproducibility.…”

Section: Methodsmentioning

confidence: 99%

Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia

et al. 2021

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Background and purpose This study aimed to analyze the gender-specific association of the filaggrin (FLG) gene polymorphisms with atopic dermatitis (AD) in Caucasians from the central region of Russia. Methods The study sample consisted of 906 female (including 474 patients with AD and 432 controls) and 406 male (such as 226 patients with AD and 180 controls) participants. Genotyping of ten polymorphisms of the FLG gene was done. The logistic regression was used to analyze the associations. A total of 125 SNPs (seven AD-associated SNPs and 118 proxy SNPs, r2≥0.8) FLG gene were used for the in silico functional annotation analysis in the females. Results Significant associations were identified between seven SNPs of the FLG gene (rs12130219, rs61816761, rs558269137, rs12144049, rs3126085, rs471144, rs6661961) and AD in females: rs12144049 was associated independent individually (for allele C OR = 1.71, 95%Сl 1.19–2.46, рperm = 0.004 and OR = 1.76, 95%Сl 1.18–2.63, рperm = 0.006 according to the additive and dominant genetic models, respectively) and seven SNPs of the FLG gene within 14 haplotypes. Haplotype GGT [rs61816761-rs3126085-rs12144049] showed the strongest association (OR = 0.55, рperm = 0.001). No association between the analyzed SNPs and AD was determined in the male group. The subsequent bioinformatic analysis predicted the SNPs of the FLG gene that possessed epigenetic and non-synonymous effects, were involved in the control of gene expression and alternative splicing of genes that contribute to AD pathophysiology. Conclusion Polymorphisms of the FLG gene are associated with AD in females but not in males in the Caucasian population of Central Russia.

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“…No association was seen with POAG in that study. However, several recent GWAS studies in different ethnic populations have demonstrated that LOXL1 was associated with risk for POAG [70,[103][104][105].…”

Section: Loxl1mentioning

confidence: 99%

The Molecular Mechanisms of Trabecular Meshwork Damage in POAG and Treatment Advances

Tang¹,

Tang²,

Wang³

et al. 2023

Glaucoma - Recent Advances and New Perspectives

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Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness affecting over 60 million people worldwide. Elevated intraocular pressure (IOP) due to dysfunction of trabecular meshwork (TM) is the most significant and the only known modifiable risk factor for POAG. Although, glaucomatous TM damage is known to be mainly responsible for IOP elevation, none of the current treatments target TM pathology. This is partly due to an incomplete understanding of the pathophysiological mechanisms of TM damage. In this review, we summarized pathological changes of TM damage in POAG and our current knowledge of the mechanisms of glaucomatous TM damage, particularly focusing on linking the genetic factors of POAG (e.g., mutations and variants in POAG risk genes, risk loci, dysregulation of gene expression) to molecular pathways of pathogenesis in TM. In terms of treatment, reduction of IOP is the mainstream strategy that can be achieved by medical, laser or surgical treatment. IOP lowering drugs, laser or surgery can lower IOP, but do not reverse or restore the oxidative stress or other TM damage in POAG. Additionally, antioxidants, ginkgo biloba extract and nutrients could be a promising treatment for POAG.

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The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia

Cited by 19 publications

References 64 publications

Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia

Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia

Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia

The Molecular Mechanisms of Trabecular Meshwork Damage in POAG and Treatment Advances

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