Diabetic retinopathy its genetics and single nucleotide polymorphism associated with multi-ethnic cohort – A review

Thiruchelvi, R.; Raghunathan, Kiruthiga

doi:10.1016/j.matpr.2020.07.178

Cited by 4 publications

(1 citation statement)

References 60 publications

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“…Our findings suggest that some clinical characteristics, including HDL-C levels, body mass index, waist circumference, and diastolic blood pressure, were associated with rs1128977 SNP (P < 0.05). Previous studies showed that the rs1128977 SNP positively correlated with the development and severity of various disorders, including diabetic retinopathy, schizophrenia, and androgenetic alopecia [ 13 - 16 ]. According to our results, there was no significant association between rs2651860 SNP and rs3132294 SNP, and dyslipidemia or other clinical characteristics.…”

Section: Discussionmentioning

confidence: 99%

Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population

Vafaeie¹,

Toba²,

Khosravi³

et al. 2021

Cureus

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BackgroundDyslipidemia is a complex trait that is influenced by various genetic and environmental factors. While the exact cause of dyslipidemia is still unknown, some studies have shown that genetic factors such as single nucleotide polymorphisms (SNPs) have been primarily associated with dyslipidemia. Based on the available data, it appears that retinoid X receptor (RXR) genes are jointly or separately associated with lipid homeostasis and that SNPs may affect RXR gene functions in lipid metabolism. MethodsTo study the possible role of the RXR genes in genetic susceptibility of dyslipidemia, three selected polymorphisms, rs3132294 located in RXRA (RXR-alpha) gene and rs2651860 and rs1128977 located in RXRG (RXR-gamma) gene, were investigated in 391 individuals with the use of tetra-primer amplification refractory mutation system polymerase chain reaction (T-ARMS PCR) method. ResultsFor the rs3132294 SNP, the genotype frequencies in the case group were GG 58.5%, GA 33.2%, and AA 8.3%, and in the control group, they were GG 51.8%, GA 36.3%, and AA 11.9%. The genotype distribution of rs2651860 SNP in the case group were TT 43.2%, TG 52.1%, and GG 4.7%, and in the control group, they were TT 50.8%, TG 46.2%, and GG 3%. Genotype frequencies for the rs1128977 SNP in the case group were CC 34.7%, CT 47.6% and TT 17.7%, compared with CC 37.8%, CT 44.3%, and TT 17.9% in the control group. When the clinical characteristics of the case and control groups were stratified by allele carrier status for each SNP, the rs1128977 SNP was associated with increased levels of HDL-cholesterol, body mass index, waist circumference, and diastolic blood pressure (P< 0.05). In contrast, the alleles of the rs2651860 and rs3132294 SNP were not associated with an increased prevalence of dyslipidemia or clinical characteristics in the case group compared to the control group. ConclusionThe present study suggests that rs1128977 SNP in the RXRG gene may affect the clinical characteristics in cases. However, further genetics association studies on large samples are required to validate our findings.

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Section: Discussionmentioning

confidence: 99%

Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population

Vafaeie¹,

Toba²,

Khosravi³

et al. 2021

Cureus

View full text Add to dashboard Cite

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The association of five polymorphisms with diabetic retinopathy in a Chinese population

Ning

et al. 2023

Ophthalmic Genetics

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Diabetic Retinopathy and Brain Structure, Cognition Function, and Dementia: A Bidirectional Mendelian Randomization Study

Chai,

Han,

Zhang

et al. 2024

JAD

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Background: Accumulating evidence has demonstrated that hyperglycemia is a possible risk factor for mild cognitive impairment or Alzheimer’s disease. Diabetic retinopathy (DR) has been identified as a risk factor for dementia in patients with diabetes. Objective: This study aimed to investigate the causal relationships between DR and brain structure, cognitive function, and dementia. Methods: We performed bidirectional two-sample Mendelian randomization for DR, brain structure, cognitive function, and dementia using the inverse-variance weighted method. Results: Inverse-variance weighted analysis showed the association of DR with vascular dementia (OR = 1.68, 95% CI: 1.01–2.82), and dementia was significantly associated with the increased risk of non-proliferative DR (NPDR) (OR = 1.76, 95% CI: 1.04–2.98). Furthermore, better cognitive performance was significantly associated with a reduced risk of NPDR (OR = 0.85, 95% CI: 0.74–0.98). No association was observed between DR and brain structure. Conclusions: These findings suggest that the association of DR with vascular dementia. The reciprocal effect of cognitive performance and dementia on NPDR risk highlights the potential benefits of dementia prevention for reducing the burden of DR.

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Diabetic retinopathy its genetics and single nucleotide polymorphism associated with multi-ethnic cohort – A review

Cited by 4 publications

References 60 publications

Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population

Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population

The association of five polymorphisms with diabetic retinopathy in a Chinese population

Diabetic Retinopathy and Brain Structure, Cognition Function, and Dementia: A Bidirectional Mendelian Randomization Study

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