Genetic polymorphisms associated with Age-related macular degeneration

Ulhaq, Zulvikar Syambani

doi:10.35479/ijretina.2020.vol003.iss001.102

Cited by 4 publications

(3 citation statements)

References 29 publications

(28 reference statements)

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“…The I 2 values indicated no (0-24.9%), low (25-49.9%), moderate (50-74.9%) or high (75-100%) heterogeneity. The random-effect model (REM) was used if heterogeneity existed; otherwise, the fixed-effect model (FEM) was used 250,[276][277][278][279][280][281][282][283][284][285][286][287] . Subgroup analysis was stratified by type of disease and ethnicity or racial descent.…”

Section: Methodsmentioning

confidence: 99%

The role of IL-6-174 G/C polymorphism and intraocular IL-6 levels in the pathogenesis of ocular diseases: a systematic review and meta-analysis

Ulhaq

Soraya

Budu

et al. 2020

Sci Rep

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Interleukin-6 (IL-6) is one of the key regulators behind the inflammatory and pathological process associated with ophthalmic diseases. The role of IL-6-174 G/C polymorphism as well as intraocular IL-6 levels among various eye disease patients differ across studies and has not been systematically reviewed. Thus, this study aims to provide a summary to understand the relationship between IL-6 and ophthalmic disease. In total, 8,252 and 11,014 subjects for IL-6-174 G/C and intraocular levels of IL-6, respectively, were retrieved from PubMed, Scopus and Web of Science. No association was found between IL-6-174 G/C polymorphisms with ocular diseases. Subgroup analyses revealed a suggestive association between the GC genotype of IL-6-174 G/C with proliferative diabetic retinopathy (PDR). Further, the level of intraocular IL-6 among ocular disease patients in general was found to be higher than the control group [standardized mean difference (SMD) = 1.41, 95% confidence interval (CI) 1.24–1.58, P < 0.00001]. Closer examination through subgroup analyses yielded similar results in several ocular diseases. This study thus indicates that the IL-6-174 G/C polymorphism does not predispose patients to ocular disease, although the GC genotype is likely to be a genetic biomarker for PDR. Moreover, intraocular IL-6 concentrations are related to the specific manifestations of the ophthalmic diseases. Further studies with larger sample sizes are warranted to confirm this conclusion.

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Section: Methodsmentioning

confidence: 99%

The role of IL-6-174 G/C polymorphism and intraocular IL-6 levels in the pathogenesis of ocular diseases: a systematic review and meta-analysis

Ulhaq

Soraya

Budu

et al. 2020

Sci Rep

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“…Meta-analysis for each gene polymorphism was performed for two or more studies, as previously described [ 3 , 4 , 5 , 6 , 22 , 23 , 24 , 25 ]. Genotypic frequency of GPER gene polymorphism was tested for deviation from the Hardy–Weinberg equilibrium (HWE) in the control subjects if HWE was not reported.…”

Section: Methodsmentioning

confidence: 99%

“…Genotypic frequency of GPER gene polymorphism was tested for deviation from the Hardy–Weinberg equilibrium (HWE) in the control subjects if HWE was not reported. The genetic association was examined using different genetic models, including allelic (a vs. A), recessive (aa vs. Aa + AA), dominant (aa + Aa vs. AA), over dominant (Aa vs. aa + AA), homozygous (aa vs. AA), and heterozygous (Aa vs. AA) models [ 5 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. The associations between GPER gene polymorphisms or GPER expression levels with cancer predisposition and progression were calculated by the pooled odds ratio (OR) and 95% confidence interval (CI).…”

Section: Methodsmentioning

confidence: 99%

Association between GPER gene polymorphisms and GPER expression levels with cancer predisposition and progression

Ulhaq

Soraya

Milliana

et al. 2021

Heliyon

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Estrogen is a female sex steroid hormone that plays a significant role in physiological functions. Evidence suggests that estrogen-signaling pathways are closely linked to cancer development and progression. The novel G protein-coupled estrogen receptor (GPER or GPR30) has been shown to influence cancer predisposition and progression, although results of related studies remain equivocal. Thus, this meta-analysis aimed to estimate the relationship between GPER gene polymorphisms and GPER expression levels, with cancer predisposition and progression. The pooled results showed that two GPER polymorphisms, rs3808350 and rs3808351, were significantly associated with cancer predisposition, especially in the Asian population, but no significant association was detected for rs11544331. In parallel, we also found that cancer aggressiveness and progression correlated with rs3808351 and GPER expression in cancerous tissues. Altogether, our findings suggest that GPER plays a pivotal role in cancer pathogenesis and progression. We suggest that rs3808350 and rs3808351 may be used as a prospective biomarker for cancer screening; while rs3808351 and GPER expression can be used to examine the prognosis of patients with cancer. Further biological studies are warranted to confirm our findings.

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