Association between CFH Y402H polymorphism and age related macular degeneration in North Indian cohort

The purpose of the study was to determine serum complement factor H (CFH) levels in patients of age related macular degeneration (AMD) and examine its association with CFH Y402H polymorphism. 115 AMD patients and 61 normal controls were recruited in this study. The single nucleotide polymorphism was...

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Bibliographic Details
Published in:PloS one 2013-07, Vol.8 (7), p.e70193-e70193
Main Authors: Sharma, Neel Kamal, Gupta, Amod, Prabhakar, Sudesh, Singh, Ramandeep, Sharma, Suresh Kumar, Chen, Wei, Anand, Akshay
Format: Article
Language:English
Subjects:
Age
Age related diseases
Aged
Alcohol
Alcohol use
Alleles
Biology
Comorbidity
Complement factor H
Complement Factor H - genetics
Complement Factor H - metabolism
Enzyme-linked immunosorbent assay
Fatty acids
Female
Gene Frequency
Gene polymorphism
Genetic Association Studies
Genotype
Health education
Humans
India
Macular degeneration
Macular Degeneration - blood
Macular Degeneration - genetics
Male
Medicine
Middle Aged
Neurology
Pathogenesis
Patients
Polymorphism
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Population
Randomization
Risk Factors
Serum levels
Single-nucleotide polymorphism
Smoking
Statistical analysis
Statistical tests
Systematic review
Vegetarianism
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Summary:The purpose of the study was to determine serum complement factor H (CFH) levels in patients of age related macular degeneration (AMD) and examine its association with CFH Y402H polymorphism. 115 AMD patients and 61 normal controls were recruited in this study. The single nucleotide polymorphism was assayed by real time PCR and serum CFH levels were measured by ELISA and standardized to total serum protein. Chi-square test was applied to polymorphism analysis while Mann Whitney U-statistic for CFH-levels. Mendelian randomization approach was used for determining causal relationship. The genotype frequency differed between the AMD patients (TT- 18.3%, TC-41.3% and CC-40.4%) and controls (TT-76.3%, TC-13.6%, and CC-10.1%) (p = 0001). The frequency of alleles was also significantly different when AMD (T-39% and C-61%) was compared to controls (T-83% and C-17%) (p = 0.0001). Level of serum CFH was significantly lower in AMD patients as compared to normal controls (p = 0.001). Our data showed that the CFH Y402H polymorphism is a risk factor for AMD in the North Indian population. Mendelian randomization approach revealed that CFH Y402H polymorphism affects AMD risk through the modification of CFH serum levels.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0070193