CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma

Hu, Zhenxian; He, Chenliang

doi:10.18632/oncotarget.15504

Cited by 9 publications

(7 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pooled analysis on POAG cases and controls revealed a significant association between rs1063192, rs2157719, rs4977756 and POAG except rs3217992. Another meta-analysis, conducted by Hu et al [ 47 ] in 2017 on 11,316 cases and 24,055 controls evaluated CDKN2B rs1063192 and it was found to be associated with decreased risk of glaucoma. Our findings were also in the concordance with previously done meta-analysis [ 47 ], rs1063192 was observed to be associated with POAG under fixed and random effect model with pooled OR ranging from 0.64 to 0.84 under dominant, heterozygous, recessive genetic model analysis with overall p ≤ 0.0001.…”

Section: Discussionmentioning

confidence: 99%

“…Another meta-analysis, conducted by Hu et al [ 47 ] in 2017 on 11,316 cases and 24,055 controls evaluated CDKN2B rs1063192 and it was found to be associated with decreased risk of glaucoma. Our findings were also in the concordance with previously done meta-analysis [ 47 ], rs1063192 was observed to be associated with POAG under fixed and random effect model with pooled OR ranging from 0.64 to 0.84 under dominant, heterozygous, recessive genetic model analysis with overall p ≤ 0.0001. Meta-analysis of rs2147719 and rs4977756 also showed statistically significant association of these SNPs with decreased risk of POAG progression with pooled OR ranging from 0.46 to 0.77 and 0.85 to 0.90 respectively, under various genetic models.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis

et al. 2021

View full text Add to dashboard Cite

Background Variants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell proliferation/senescence in RGCs, the degeneration of which is a risk factor for glaucoma. CDKN2B-AS1 codes a long non-coding RNA in antisense direction and is involved in influencing nearby CDKN2A/CDKN2B via regulatory mechanisms. Methods Current study investigated four SNPs (rs2157719, rs3217992, rs4977756, rs1063192) of aforementioned genes in a case–control study in a North Indian cohort. Genotyping was done with Taqman chemistry. In addition, an updated meta-analysis was performed. Results Two SNPs, rs3217992 and rs2157719 were found to be significantly associated with the disease. The frequency of ‘T’ allele of rs3217992 was significantly lower in cases (POAG/PACG) [p = 0.045; OR = 0.80(CI = 0.65–0.99) and p = 0.024; OR = 0.73(CI = 0.55–0.96)], respectively than in controls. Genetic model analysis revealed that TT + CT genotype confers 0.73-fold protection against POAG [p = 0.047; OR = 0.73(CI = 0.54–0.99)] and trend assumed additive model gives 0.53 times higher protection against PACG progression. However the association of rs3217992 with POAG and PACG did not remain significant after Bonferroni correction. For rs2157719, the ‘C’ allele was found to be less prevalent among cases (POAG/PACG) with respect to controls. Cochran Armitage trend test assuming additive model revealed 0.77 and 0.64-fold protection against POAG and PACG respectively. Bonferroni correction (pcorr = 0.003) was applied and the association of rs2157719 remained significant in PACG cases but not among POAG cases (p = 0.024). The ‘CC’ genotype also confers protection against primary glaucoma (POAG/PACG) among males and female subjects. The frequency rs1063192 and rs4977756 did not vary significantly among subjects, however the haplotype ‘CATA’ was found to be associated with increased glaucoma risk. An updated meta-analysis conducted on pooled studies on POAG cases and controls revealed significant association between rs1063192, rs2157719, rs4977756 and POAG except rs3217992. Conclusion The study concludes significant association between INK4 variants and primary glaucoma in the targeted North Indian Punjabi cohort. We believe that deep-sequencing of INK4 locus may help in identifying novel variants modifying susceptibility to glaucoma. Functional studies can further delineate the role of CDKN2B and CDKN2B-AS1 in primary glaucoma for therapeutic intervention.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis

et al. 2021

View full text Add to dashboard Cite

show abstract

“…[9,35,36] The small sample sizes, the clinical heterogeneity and the different ethnic populations seem to be the main factors contributing to the inconclusive findings of the studies. [37] A recent meta-analysis of Hu and He [37] found that rs1063192 polymorphism decreases the risk of glaucoma among Caucasians, Asians and Africans. However, the SNP of CDKN2B rs3217992 in patients with glaucoma has not been genotyped until now.…”

Section: Discussionmentioning

confidence: 99%

“…[9,35,36] Both rs3217992 and rs1063192 polymorphisms in CDKN2B gene are miRNA-binding-site variants, with the association of rs1063192 with POAG being widely studied in various ethnic groups. [30,35,37] However, the possible association between CDKN2B rs3217992 polymorphism and glaucoma risk has not been studied in any population.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

et al. 2020

View full text Add to dashboard Cite

Glaucoma is a progressive optic neuropathy resulting from retinal ganglion cells death; it represents one of the leading causes of irreversible blindness worldwide. Although, primary open angle glaucoma (POAG) is the most common type of the disease, the pathogenesis of POAG and the genetic factors contributing to disease development remain poorly understood. The aim of this study was to investigate whether the polymorphisms rs76481776 in miR182 gene and rs3217992 in cyclin-dependent kinase inhibitor-2B (CDKN2B) gene are risk factors for POAG in a series of patients of Greek origin. A case-control study was conducted including 120 patients with POAG and 113 unaffected healthy controls of Greek origin, surveyed for polymorphisms with potential correlation to POAG. DNA from each individual was tested for the miR182 rs76481776 and CDKN2B rs3217992 polymorphisms. Regarding the miR182 rs76481776 polymorphism, the T allele occurred with significantly higher frequency in POAG patients compared to controls (OR: 2.62, 95% CI: 1.56-4.39; p = 0.0002). The CDKN2B rs3217992 A allele frequency was found significantly increased in POAG patients compared to healthy individuals (OR: 1.72, 95% CI: 1.18-2.49; p = 0.005). Therefore, both rs76481776 polymorphism in miR182 gene and rs3217992 polymorphism in CDKN2B gene seem to be associated with the development of POAG in a Greek population. The carriers of the T allele of rs76481776 in miR182 and the carriers of the A allele of rs3217992 in CDKN2B have an increased risk of developing POAG.

show abstract

“…The CDKN2B gene (cyclin dependent kinase inhibitor 2B) is a strong cell cycle inhibitorprotein, acting jointly with CDK4 and CDK6. It may cause the cell cycle retention effect of TGF-beta [29,30].…”

Section: Discussionmentioning

confidence: 99%

‘Cell cycle’ and ‘cell death’- related genes are differentially expressed during long – term in vitro real-time cultivation of porcine oviductal epithelial cells

Kulus

Popis

et al. 2019

Medical Journal of Cell Biology

View full text Add to dashboard Cite

Alterations in cells depend on their genetic material, its activation and translation of the products. The genes responsible for the cell cycle processes and apoptosis of porcine oviductal cells have been presented in our study. The processes occurring in the reproductive system of females are extremely complex and require in-depth knowledge. Thanks to in vitro studies on the fallopian tube epithelium cells, we can get closer to understanding the biochemical and morphological changes occurring in mammalian organisms. Our research was conducted on fallopian tubes obtained from commercially bred pigs and its aim was to assess the expression profile of genes responsible for the most important processes of cellular life. Cell cultures were carried out for 30 days, with the obtained cells subjected to molecular analysis. We have shown significant regulation of “cell death” and “cell cycle” genes, some of which are related to the reproductive system. The alterations in transcriptomic profile and mutual relations between the genes were analyzed and related to the literature findings. The knowledge gained could help in identifying new potential markers of the in vitro occurrence of processes described by the ontology groups of interest.Running title: pig, oocytes, microarray assays, in vitro maturation (IVM)

show abstract

CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma

Cited by 9 publications

References 33 publications

Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis

Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

‘Cell cycle’ and ‘cell death’- related genes are differentially expressed during long – term in vitro real-time cultivation of porcine oviductal epithelial cells

Contact Info

Product

Resources

About