Sleeping pattern and activities of daily living modulate protein expression in AMD

Sharma, Kaushal; Singh, Ramandeep; Sharma, Suresh; Anand, Akshay

doi:10.1371/journal.pone.0248523

Cited by 3 publications

(3 citation statements)

References 48 publications

(55 reference statements)

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“…It has been observed that sleeping is not only associated with many systemic diseases, such as hypertension ( Levenson et al, 2017 ) and coronary heart disease ( Cheng et al, 2014 ; Lao et al, 2018 ), but also with eye diseases, such as diabetic retinopathy ( Tan et al, 2018 ), vision impairment ( Sun et al, 2021 ), dry eye ( Au et al, 2019 ; Zheng et al, 2022 ), myopia and cataract ( Zhou et al, 2023 ). Interestingly, researchers provided evidence that night sleeping hours were associated with the decreased expression of TIMP-3, IER3, and SLC16A8 in AMD patients ( Sharma et al, 2021 ). In addition disrupted sleep patterns also promote AMD due to the production of reactive oxygen species, a lack of oxygen and inflammatory markers, such as C-reactive protein (CRP) and interleukin-6 (IL-6) ( Colak et al, 2012 ; Irwin, 2019 ; Han et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study

Zhu,

Li,

et al. 2023

Front. Aging Neurosci.

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AimsObservational studies have shown that sleep pattern is associated with age-related macular degeneration (AMD), but whether sleep pattern is a causal factor for AMD remains unclear. This study aims to use Mendelian randomization (MR) analysis to investigate the potential causal relationship between sleep traits and AMD.MethodsThis is a two-sample MR study. The single-nucleotide polymorphisms associated with AMD and early AMD were selected as the outcome from two different genome-wide association studies (GWAS): the early AMD GWAS with 14,034 cases and 91,214 controls, and AMD GWAS with 3,553 cases and 147,089 controls. The datasets of sleep duration, daytime dozing, and sleeplessness were used as exposure, which comprised nearly 0.46 million participants. Inverse-variance weighted method was used as the main result, and comprehensive sensitivity analyses were conducted to estimate the robustness of identified associations and the impact of potential horizontal pleiotropy.ResultsThrough MR analysis, we found that sleep duration was significantly associated with AMD (OR = 0.983, 95% CI = 0.970–0.996, P-value = 0.01). We also found suggestive evidence for the association of genetically predicted sleep duration with early AMD, which showed a consistent direction of effect with a marginal significance (OR = 0.724, 95% CI = 0.503–1.041, P-value = 0.08). Sensitivity analyses further supported the robustness of the causal relationship between sleep duration and AMD. However, we were unable to determine the relationship between daytime dozing or sleeplessness and AMD (including early AMD) (P-value > 0.05).ConclusionSleep duration affects the causal risk for AMD; that is, longer sleep duration reduces the risk of AMD, while shorter sleep duration increases the risk of AMD. Although the influence is minimal, keeping adequate sleep duration is recommended, especially for patients with intermediate or advanced AMD.

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Section: Discussionmentioning

confidence: 99%

Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study

Zhu,

Li,

et al. 2023

Front. Aging Neurosci.

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“…Daily life activities like sleeping patterns are also known to modulate the protein expression of the genes. 15 We have also identified that genetic variants and subsequent protein alterations especially lipid metabolising proteins (APOE and LIPC) can modulate the anti-VEGF response in wet AMD patients. 53 But, the translation of such studies to diagnostic and therapeutic advancement remains neglected because most of the studies lack the approach to consider the clinical findings, genotype, protein expression and socio-demographic variables as an integral entity to dissect the AMD complexity.…”

Section: Introductionmentioning

confidence: 99%

“…Many studies have examined the association of AMD with various genetic factors. Genetic variants of complement factors (C2, CFI, CFH, CCL2), angiogenesis (VEGFs, VEGFRs, etc), pro-angiogenic genes (TIMP3, ADAMTS9), and metabolizing genes (LIPC, APOE) genes have been reported to be associated with the risk of AMD 15–20 genetic polymorphisms in different genes have been linked to AMD like CFHY402H (rs1061170), ARMS2 (rs10490924), C2 (rs547154), ABCA1 (rs1883025), VEGFA (rs4711751) are associated with advanced AMD, ie, neovascular form of AMD, 21 genetic polymorphisms in TLR are associated with AMD in Indian population. 19 Some studies have shown a negative association of AMD with genetic variants of rs2075650 ofApoE, 22 rs10468017 of hepatic lipase (LIPC), 23 and allele T of variant rs493258of hepatic lipase.…”

Section: Introductionmentioning

confidence: 99%

Genotyping of Clinical Parameters in Age-Related Macular Degeneration

Battu¹,

Sharma²,

Thangavel³

et al. 2022

OPTH

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Background Optical coherence tomography (OCT) parameters like subretinal fluid (SRF), intra retinal fluid (IRF) and retinal detachment (RPED) etc are routinely accessed by ophthalmologists in patients with retinal complaints. Correlation of OCT findings with genotype and phenotype of AMD patients is relatively unexplored. Here, we have investigated the association of OCT parameters’ with genetic variants along with protein expressions and examined their clinical relevance with AREDS (Age-Related Eye Disease Study) criteria in AMD patients. Methods For this study, samples were recruited from Advanced Eye Centre, PGIMER, Chandigarh, India. Case-only analysis of anonymous imaging data (OCT/Fundus) acquired during the routine clinical evaluation of patients was done to examine the OCT findings in the AMD patients. TaqMan genotyping assays were used to analyze the single nucleotide polymorphisms in these patients. ELISA (enzyme linked immunosorbent assay) was used to estimate the protein levels of these genes in serum. Information pertaining to lifestyle/habits was also collected by administering a standard questionnaire at the time of recruitment of the patients. Results Intra-retinal fluid (IRF) was associated significantly with the LIPC genotype (p=0.04). Similarly, smoking status and early AMD were also associated with the APOE genotype (p=0.03). Additionally, variants of IER-3 and SLC16A8 were also found to be associated with co-morbidities (p=0.02) and males (p=0.02), respectively. RPED has shown a significant association with AREDS criteria, which demonstrated an area under AUROC around 72%. Conclusion Results of genotype–phenotype association can give a precise impression of AMD severity and can be beneficial for the early diagnosis of AMD cases.

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Modulated anti-VEGF therapy under the influence of lipid metabolizing proteins in Age related macular degeneration: a pilot study

Sharma

Battu

Singh

et al. 2022

Sci Rep

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Age-related macular degeneration (AMD) is a devastating retinal disease that results in irreversible vision loss in the aged population. The complex genetic nature and degree of genetic penetrance require a redefinition of the current therapeutic strategy for AMD. We aimed to investigate the role of modifiers for current anti-VEGF therapy especially for non-responder AMD patients. We recruited 78 wet AMD cases (out of 278 AMD patients) with their socio-demographic and treatment regimen. Serum protein levels were estimated by ELISA in AMD patients. Data pertaining to the number of anti-VEGF injections given (in 1 year) along with clinical images (FFA and OCT) of AMD patients were also included. Visual acuity data (logMAR) for 46 wet AMD cases out of a total of 78 patients were also retrieved to examine the response of anti-VEGF injections in wet AMD cases. Lipid metabolizing genes (LIPC and APOE) have been identified as chief biomarkers for anti-VEGF response in AMD patients. Both genotypes ‘CC’ and ‘GC’ of LIPC have found to be associated with a number of anti-VEGF injections in AMD patients which could influence the expression of B3GALTL,HTRA1, IER3, LIPC and SLC16A8 proteins in patients bearing both genotypes as compared to reference genotype. Elevated levels of APOE were also observed in group 2 wet AMD patients as compared to group 1 suggesting the significance of APOE levels in anti-VEGF response. The genotype of B3GALTL has also been shown to have a significant association with the number of anti-VEGF injections. Moreover, visual acuity of group 1 (≤ 4 anti-VEGF injections/year) AMD patients was found significantly improved after 3 doses of anti-VEGF injections and maintained longitudinally as compared to groups 2 and 3. Lipid metabolising genes may impact the outcome of anti-VEGF AMD treatment.

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Sleeping pattern and activities of daily living modulate protein expression in AMD

Cited by 3 publications

References 48 publications

Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study

Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study

Genotyping of Clinical Parameters in Age-Related Macular Degeneration

Modulated anti-VEGF therapy under the influence of lipid metabolizing proteins in Age related macular degeneration: a pilot study

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