ABSTRACT: To examine the potential influence factors of age-related macular degeneration (AMD).
A nationwide multicenter case-control study conducted between Jan. 2008 and May 2010. A total of 545 AMD patients and 480 controls, aged 50 years or older consented to participate in the study. Questionnaires were designed to collect information about demographic characteristics (age, gender), family history, disease history, and behavior factors (smoking, drinking). Moreover, physical examinations, biochemical examinations and ophthalmology examinations were conducted for each participant.
The subjects who had AMD family history were 4.21 times more likely to have AMD (P<0.001). The subject who had the history of tracheitis /asthma were 1.87 times more likely to have AMD (P=0.008). Both smoking and drinking were risk factors to AMD (OR= 1.91,P < 0.001; OR=1.53, P = 0.003, respectively). Total protein (P = 0.004), high-density lipoprotein cholesterol ester (P = 0.016) and apolipoprotein A1 (P = 0.012) were associated with AMD.
Family history, smoking, drinking and history of tracheitis /asthma are the risk factors of AMD. Total protein, high-density lipoprotein cholesterol ester and apolipoprotein A1 are associated with AMD.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 08/2012; 44(4):588-93.
ABSTRACT: To explore genetic variants robustly associated with high-density lipoprotein cholesterol (HDL-C) by Mendelian randomization analysis and to examine its causal association with age-related macular degeneration (AMD).
AMD cases and controls were selected from several hospitals nationwide. Their AMD was diagnosed by eye examination, serum HDL-C levels were examined by blood tests, and other informations were also collected including demographic characteristics, high risk behaviors and so on. The genetic loci hepatic lipase gene (LIPC) rs10468017 was used as instrumental variables for HDL-C.
The study population contained hospital-based 545 AMD patients and 480 controls. The LIPC genotypes were unrelated to all potentially confounding factors measured in this study. In conventional multivariable analyses, the HDL-C level was positively associated with AMD. The odds ratio was 2.00 (95%CI: 1.41-2.86). Instrumental variable analyses (Mendelian randomization approach) showed an increasing odds ratio of HDL-C and AMD, which was 7.15 (95%CI: 0.80-64.13).
Being different with previous observational analysis, this study did not support the status of increasing serum HDL-C level as a risk factor for AMD by Mendelian randomization analysis.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 06/2012; 44(3):407-11.
ABSTRACT: We explored associations between age-related macular degeneration (AMD) and genetic variants of 10 genes in a nationwide Chinese population.
In this multicenter case-control study, 535 AMD patients and 469 controls were recruited from 16 centers that spread from the north to the south of China. All participants underwent comprehensive eye examinations, and 40 single nucleotide polymorphisms (SNPs) of 10 genes were selected. DNA samples were genotyped with the MassArray system. The effect of the genotypes and haplotypes on AMD was assessed with logistic regression analysis, adjusted for age, sex, long-term residence, and family origin.
In our study, 11 SNPs in complement H (CFH), 2 in age-related maculopathy susceptibility 2 (ARMS2), and 2 in high-temperature requirement factor A1 (HTRA1) were associated significantly with AMD. They were rs551397, rs800292, rs1329424, rs1061170, rs10801555, rs12124794, rs10733086, rs10737680, rs2274700, rs1410996, and rs380390 in CFH; rs10490924 and rs2736912 in ARMS2; and rs11200638 and rs3793917 in HTRA1. Three haplotypes in CFH, predisposed the patients significantly to AMD (P<0.001, P=0.001, and P<0.001, respectively). With the sample size of our study, no relationship was found for AMD and the SNPs tested in complement 3 (C3); serpin peptidase inhibitor, clade G, member 1 (SERPING1); vascular endothelial growth factor (VEGF); cholesterol ester transfer protein (CETP); lipoprotein lipase (LPL); hepatic lipase (LIPC); and metallopeptidase inhibitor 3 (TIMP3) genes.
Gene variants in CFH, ARMS2, and HTRA1 contribute to AMD in the Chinese population.
Investigative ophthalmology & visual science 05/2012; 53(7):4262-9. · 3.43 Impact Factor
ABSTRACT: To determine whether there is an association between CFH, ARMS2, HTRA1, VEGF, SERPING1 or C3 genotypes and patient response to treatment with intravitreal bevacizumab for neovascular age-related macular degeneration (AMD).
This was a multicenter prospective study. One hundred and forty four patients with neovascular AMD treated with bevacizumab were recruited from 13 centers. Twelve SNPs were genotyped using Sequenom. Visual acuity score (VAS), central retinal thickness and maximum thickness of lesion were measured at each visit.
For the CFH rs800292 polymorphism, mean VAS changes were 4.4, 8.7 and 15.5 letters in the CC, CT and TT genotype carriers (p = 0.009). For ARMS2 rs10490924, mean VAS changes were 3.6, 12.1 and 9.6 letters for the TT, TG and GG genotypes (p = 0.001). For HTRA1 rs11200638, mean VAS changes were 3.6, 12.3 and 9.6 letters for the AA, AG and GG genotypes (p < 0.001).
CFH, ARMS2 and HTRA1 genotypes may influence patient response to treatment with intravitreal bevacizumab for neovascular AMD.
Pharmacogenomics 05/2012; 13(7):779-87. · 3.97 Impact Factor