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Published on: July 14, 2016
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
Cheryl L Thompson1, Barbara E K Klein, Ronald Klein
1Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.
Insights
Complement Factor H (CFH) and Hemicentin-1 (HMCN1) genes are linked to age-related macular degeneration (AMD) and kidney function. Genetic variations in these genes influence AMD progression and renal function, suggesting shared biological pathways.
Area of Science:
- Genetics
- Ophthalmology
- Nephrology
Background:
- Age-related macular degeneration (AMD) and renal function decline are significant health concerns.
- Complement Factor H (CFH) and Hemicentin-1 (HMCN1) are implicated in various biological processes.
- Understanding shared genetic factors could reveal common disease mechanisms.
Purpose of the Study:
- To investigate the association between CFH and HMCN1 gene variations and age-related macular degeneration (AMD).
- To examine the relationship of these genes with renal function, including estimated glomerular filtration rate (eGFR) and creatinine clearance.
- To explore potential common pathways linking ocular and renal health.
Main Methods:
- Analysis of genetic polymorphisms in CFH and HMCN1 within two large cohorts: the Family Age-Related Macular degeneration Study (FARMS) and the Beaver Dam Eye Study (BDES).
- Regression analyses were performed, accounting for known risk factors and familial effects.
- Longitudinal assessment of AMD progression and renal function parameters.
Main Results:
- Confirmed strong association between the rs1061170 (Y402H) polymorphism in CFH and AMD.
- Demonstrated that CFH and HMCN1 polymorphisms influence the rate of AMD progression.
- Observed significant associations between CFH polymorphisms (rs1061170, rs800292) and reduced eGFR.
- Identified associations between HMCN1 polymorphisms (rs743137, rs680638) and creatinine clearance progression.
Conclusions:
- CFH and HMCN1 genes play a role in the pathophysiology of both AMD and renal disease.
- Findings support the existence of common biological pathways influencing ocular and renal function.
- Further research is warranted to elucidate the shared determinants of these conditions.
Abstract:
In this study, we investigated the associations of complement factor H (CFH) and hemicentin-1 (HMCN1) with age-related macular degeneration (AMD) and renal function. Three scales, measuring the course of AMD and drusen development, were examined in two samples: the Family Age-Related Macular degeneration Study (FARMS), consisting of families ascertained through a single individual with severe AMD, and an unascertained population-based family cohort, the Beaver Dam Eye Study (BDES), which was also used to assess longitudinal changes in AMD and associations with renal function. Associations were performed by a regression accounting for known risk factors as well as familial and sibling effects. Strong evidence of the association of rs1061170 (Y402H) variation with AMD was confirmed (P = 9.15 x 10(-5) in BDES, P = 0.016 in FARMS). This association was observed in multiple AMD scales, suggesting that its role is not phenotype-specific. Polymorphisms in both CFH and HMCN1 appeared to influence the longitudinal rate of change of AMD. The rs1061170 polymorphism was also associated with a reduction in estimated glomerular filtration rate (eGFR) (P = 0.046). Another CFH polymorphism, rs800292, was similarly associated with eGFR [beta = -0.90 (P = 0.022)]. Associations between rs743137 (P = 0.05) and rs680638 (P = 0.022) in HMCN1 with calculated creatinine clearance progression were also observed. Both genes appear to play a role in both AMD and renal pathophysiology. These findings support evidence for common pathways influencing ocular and renal function and suggest that further work is required on their common determinants.
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