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Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population.

Fang K, Gao P, Tian J, Qin X, Yu W, Li J, Chen Q, Huang L, Chen D, Hu Y, Li X - J Ophthalmol (2015)

Bottom Line: The joint effect that involved CFH rs1061170 and HTRA1 rs3793917 was shown statistically significant (P < 0.001) with the highest cross-validation consistency (10/10) and the best testing balanced accuracy (64.50%).Conclusions.Evidence that the joint effect that involved CFH and ARMS2/HTRA1 may contribute to the risk of neovascular AMD in Chinese population was obtained.

View Article: PubMed Central - PubMed

Affiliation: Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, China.

ABSTRACT
Purpose. The etiology of neovascular age-related macular degeneration (nAMD) cannot be completely explained by identified environmental risk factors or single-locus gene variants. This study was to explore the potential interactions among gene variants on nAMD in Chinese population. Methods. 43 SNPs located in different genes were genotyped in 932 Chinese individuals (464 nAMD patients and 468 controls). We explored the potential interactions among gene variants using generalized multifactor dimensionality reduction (GMDR) algorithm and the method to measure the departure from the additivity model. Results. The joint effect that involved CFH rs1061170 and HTRA1 rs3793917 was shown statistically significant (P < 0.001) with the highest cross-validation consistency (10/10) and the best testing balanced accuracy (64.50%). In addition, based on the method to measure the departure from the additivity model, the synergy index (S) was 2.63 (1.09-6.38) and the attributable proportion due to interaction (AP) was 55.7% (21.4%-89.9%), which suggested that a common pathway may exist for these genes for nAMD. Those who carried CC for rs3793917 and TC/CC for rs1061170 were at the highest risk of nAMD (OR: 9.76, 95% CI: 4.65-20.51). Conclusions. Evidence that the joint effect that involved CFH and ARMS2/HTRA1 may contribute to the risk of neovascular AMD in Chinese population was obtained.

No MeSH data available.


Related in: MedlinePlus

Association for nAMD with each of the five gene/environmental risk factors.
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fig1: Association for nAMD with each of the five gene/environmental risk factors.

Mentions: Of total 43 SNPs tested, 11 SNPs in CFH and 4 SNPs in ARMS2/HTRA1 were significantly associated with nAMD. Other SNPs in C3, SERPING1, VEGF, CETP, LPL, LIPC, and TIMP3 did not show statistically significant differences between nAMD patients and controls [16] (Supplementary Table S2). Using the additive model for each SNP, the age and gender adjusted ORs for nAMD with the selected genetic factors were 2.38 (1.95–2.89) for rs3793917, 2.12 (1.48–3.05) for rs1061170, 2.31 (1.60–3.34) for rs380390, and 2.01 (1.44–2.80) for rs2736912, respectively. The age and gender adjusted OR for the smoking status was 1.81 (1.29–2.54) (Figure 1). Similar ORs were obtained using the dominant models whereas ORs using the recessive model changed to 3.82 (2.83–5.17) for rs3793917, 7.67 (0.95–62.21) for rs1061170, 7.71 (0.95–62.31) for rs380390, and 2.11 (1.47–3.04) for rs2736912 (Supplementary Table S3).


Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population.

Fang K, Gao P, Tian J, Qin X, Yu W, Li J, Chen Q, Huang L, Chen D, Hu Y, Li X - J Ophthalmol (2015)

Association for nAMD with each of the five gene/environmental risk factors.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4389821&req=5

fig1: Association for nAMD with each of the five gene/environmental risk factors.
Mentions: Of total 43 SNPs tested, 11 SNPs in CFH and 4 SNPs in ARMS2/HTRA1 were significantly associated with nAMD. Other SNPs in C3, SERPING1, VEGF, CETP, LPL, LIPC, and TIMP3 did not show statistically significant differences between nAMD patients and controls [16] (Supplementary Table S2). Using the additive model for each SNP, the age and gender adjusted ORs for nAMD with the selected genetic factors were 2.38 (1.95–2.89) for rs3793917, 2.12 (1.48–3.05) for rs1061170, 2.31 (1.60–3.34) for rs380390, and 2.01 (1.44–2.80) for rs2736912, respectively. The age and gender adjusted OR for the smoking status was 1.81 (1.29–2.54) (Figure 1). Similar ORs were obtained using the dominant models whereas ORs using the recessive model changed to 3.82 (2.83–5.17) for rs3793917, 7.67 (0.95–62.21) for rs1061170, 7.71 (0.95–62.31) for rs380390, and 2.11 (1.47–3.04) for rs2736912 (Supplementary Table S3).

Bottom Line: The joint effect that involved CFH rs1061170 and HTRA1 rs3793917 was shown statistically significant (P < 0.001) with the highest cross-validation consistency (10/10) and the best testing balanced accuracy (64.50%).Conclusions.Evidence that the joint effect that involved CFH and ARMS2/HTRA1 may contribute to the risk of neovascular AMD in Chinese population was obtained.

View Article: PubMed Central - PubMed

Affiliation: Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, China.

ABSTRACT
Purpose. The etiology of neovascular age-related macular degeneration (nAMD) cannot be completely explained by identified environmental risk factors or single-locus gene variants. This study was to explore the potential interactions among gene variants on nAMD in Chinese population. Methods. 43 SNPs located in different genes were genotyped in 932 Chinese individuals (464 nAMD patients and 468 controls). We explored the potential interactions among gene variants using generalized multifactor dimensionality reduction (GMDR) algorithm and the method to measure the departure from the additivity model. Results. The joint effect that involved CFH rs1061170 and HTRA1 rs3793917 was shown statistically significant (P < 0.001) with the highest cross-validation consistency (10/10) and the best testing balanced accuracy (64.50%). In addition, based on the method to measure the departure from the additivity model, the synergy index (S) was 2.63 (1.09-6.38) and the attributable proportion due to interaction (AP) was 55.7% (21.4%-89.9%), which suggested that a common pathway may exist for these genes for nAMD. Those who carried CC for rs3793917 and TC/CC for rs1061170 were at the highest risk of nAMD (OR: 9.76, 95% CI: 4.65-20.51). Conclusions. Evidence that the joint effect that involved CFH and ARMS2/HTRA1 may contribute to the risk of neovascular AMD in Chinese population was obtained.

No MeSH data available.


Related in: MedlinePlus