Longitudinal Andhra Pradesh Eye Disease Study: rationale, study design and research methodology

Khanna, Rohit C; Murthy, Gudlavalleti V S; Marmamula, Srinivas; Mettla, Asha Latha; Giridhar, Pyda; Banerjee, Seema; Shekhar, Konegari; Chakrabarti, Subhabrata; Gilbert, Clare; Rao, Gullapalli N

doi:10.1111/ceo.12633

Cited by 16 publications

(24 citation statements)

References 36 publications

(68 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The normal volunteers (controls) belonged to the same ethnicity of the patients and were matched to their geographical region of habitat. Majority of these subjects belonged to a longitudinal cohort [The Andhra Pradesh Eye Disease Study (APEDS)] who are being followed up for the last 20 years (Khanna et al 2016). All control subjects, along with the parents and relatives of the PCG patients, underwent a comprehensive ocular examination and did not manifest any signs or symptoms of glaucoma or any other ocular or systemic diseases.…”

Section: Methodsmentioning

confidence: 99%

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

et al. 2017

Self Cite

View full text Add to dashboard Cite

Primary congenital glaucoma (PCG) is a severe autosomal recessive ocular disorder associated with considerable clinical and genetic heterogeneity. Recently, rare heterozygous alleles in the angiopoietin receptor-encoding gene TEK were implicated in PCG. We undertook this study to ascertain the second mutant allele in a large cohort (n = 337) of autosomal recessive PCG cases that carried heterozygous TEK mutations. Our investigations revealed 12 rare heterozygous missense mutations in TEK by targeted sequencing. Interestingly, four of these TEK mutations (p.E103D, p.I148T, p.Q214P, and p.G743A) co-occurred with three heterozygous mutations in another major PCG gene CYP1B1 (p.A115P, p.E229K, and p.R368H) in five families. The parents of these probands harbored either of the heterozygous TEK or CYP1B1 alleles and were asymptomatic, indicating a potential digenic mode of inheritance. Furthermore, we ascertained the interactions of TEK and CYP1B1 by co-transfection and pull-down assays in HEK293 cells. Ligand responsiveness of the wild-type and mutant TEK proteins was assessed in HUVECs using immunofluorescence analysis. We observed that recombinant TEK and CYP1B1 proteins interact with each other, while the disease-associated allelic combinations of TEK (p.E103D)∷CYP1B1 (p.A115P), TEK (p.Q214P)∷CYP1B1 (p.E229K), and TEK (p.I148T)∷CYP1B1 (p.R368H) exhibit perturbed interaction. The mutations also diminished the ability of TEK to respond to ligand stimulation, indicating perturbed TEK signaling. Overall, our data suggest that interaction of TEK and CYP1B1 contributes to PCG pathogenesis and argue that TEK-CYP1B1 may perform overlapping as well as distinct functions in manifesting the disease etiology.

show abstract

Section: Methodsmentioning

confidence: 99%

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

et al. 2017

Self Cite

View full text Add to dashboard Cite

show abstract

“…The participant baseline characteristics and ocular characteristics were reported. Compared with several existing population-based cohorts, [29][30][31][32][33][34][35][36][37] the JECS is a unique and high-quality study focusing on ocular assessment along with comprehensive etiological evaluation, imaging and biomarker collection, providing the opportunity to identify risk factors, imaging and biomarkers of visual impairment (either ocular vascular anomalies or optic nerve degeneration) and to evaluate their associations with CVD and neurological diseases. Data from the JECS will provide evidence to formulate recommendations for optimal practice not only in visual impairment precaution but also in CVD and neurological diseases prevention (eye as a window) in subsequent phases.…”

Section: Discussionmentioning

confidence: 99%

The Jidong Eye Cohort Study: objectives, design, and baseline characteristics

et al. 2020

View full text Add to dashboard Cite

Background To describe the objective, design and baseline characteristics of the Jidong Eye Cohort Study (JECS), a community-based cohort in China based on etiology, imaging and biomarkers. The JECS will clarify the pathogenesis of visual impairment and status of ocular indicators in the occurrence and progression of cardio-cerebrovascular and neurological diseases. Methods Between August 2019 and January 2020, the JECS recruited consecutive participants aged 18 years and older from the Jidong communities in China. The demographic and clinical characteristics were collected by trained site personnel via face-to-face interviews. The relevant biological samples were also collected. The participants underwent comprehensive ophthalmic examination, such as retinal photography and optical coherence tomography (OCT) angiography. The following outcomes were measured annually: ocular vascular abnormality, optic nerve degeneration, cardiovascular diseases (CVD) and neurological diseases. The study will be performed until 2024. Results Among 3377 participants, the average age was 45.0 ± 12.5 years and 1809 (53.6%) were women. Hypertension occurred in 825 individuals (25.0%), diabetes in 258 (7.7%), hyperglycemia in 474 (14.2%), and a CVD history in 100 (3.0%). The mean best-corrected visual acuity was 0.1 logMAR in the recruited subjects. The average OCT signal index was 8.2 ± 1.2. Additionally, the mean vessel densities for the entire measured area were 46.4% and 50.8% for the superficial and deep vascular complex, respectively. Mean area and perimeter of foveal avascular zone was 0.3 mm2 and 2.3 mm. Conclusions The JECS is a large community-based prospective cohort in North China. Rich data collected from this study will provide the opportunity to identify risk factors, imaging, and biomarkers of visual impairment (either ocular vascular anomalies or optic nerve degeneration) and to evaluate their associations with CVD and neurological diseases.

show abstract

“…HGS has been shown to be an indicator of ageing. 18 A decrease in HGS associated with ageing correlates with the development of age-related disorders. 19 Multiple studies have explored the association between HGS and cardiovascular diseases, cognition and all-cause mortality.…”

Section: Discussionmentioning

confidence: 99%

Associations of grip strength with retinal and choroidal thickness in patients with type 2 diabetes mellitus without retinopathy: a cross-sectional study

et al. 2020

View full text Add to dashboard Cite

ObjectiveTo evaluate the associations of grip strength with retinal or choroidal thickness in patients with type 2 diabetes mellitus without retinopathy.DesignObservational study-cross-sectional design.Setting and participantsThis study included the Chinese patients with type 2 diabetes without retinopathy registered in the community health system in Guangzhou, China.MeasuresThe grip strength in both hands were measured by using a dynamometer. The retinal and choroidal thickness in macular region stratified by Early Treatment Diabetic Retinopathy Study (ETDRS) sectors were measured by a swept-source optical coherence tomography.ResultsA total of 1029 patients were included. Both retinal thickness and choroidal thickness decreased with the lower quartile of grip strength. Regression analyses indicated that the average retinal and choroidal thickness increased by 0.14 µm (95% CI: 0.03 to 0.25 µm, p=0.011) and 0.57 µm (95% CI: 0.03 to 1.11 µm, p=0.037), respectively, for each additional kilogram of grip strength following adjustment for age and sex. Further adjustments were made for axial length, haemoglobin A1c, length of time the patient had diabetes, insulin usage, height, weight and systolic and diastolic blood pressure, which resulted in an average retinal and choroidal thickness increase of 0.13 µm (95% CI: 0.02 to 0.24 µm, p=0.024) and 0.65 µm (95% CI: 0.13 to 1.16 µm, p=0.013), respectively, for each additional kilogram of grip strength. Consistent results were obtained in the analyses in ETDRS 9 sectors.ConclusionLower hand grip strength was found to be significantly associated with thinner retinal and choroidal layers in patients with diabetes. Grip strength may provide a useful and easily administered indicator of retinal status in patients with diabetes.

show abstract

Longitudinal Andhra Pradesh Eye Disease Study: rationale, study design and research methodology

Abstract: Andhra Pradesh Eye Disease Study 3 will provide data on the incidence and progression of visual impairment and major eye diseases and their associated risk factors in India. The study will provide further evidence to aid planning eye care services.

Cited by 16 publications

References 36 publications

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

The Jidong Eye Cohort Study: objectives, design, and baseline characteristics

Associations of grip strength with retinal and choroidal thickness in patients with type 2 diabetes mellitus without retinopathy: a cross-sectional study

Contact Info

Product

Resources

About