Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population
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 SNP...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2015-01-01
|
| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2015/821918 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832546115012001792 |
|---|---|
| author | Kai Fang Pei Gao Jun Tian Xueying Qin Wenzhen Yu Juan Li Qing Chen Lvzhen Huang Dafang Chen Yonghua Hu Xiaoxin Li |
| author_facet | Kai Fang Pei Gao Jun Tian Xueying Qin Wenzhen Yu Juan Li Qing Chen Lvzhen Huang Dafang Chen Yonghua Hu Xiaoxin Li |
| author_sort | Kai Fang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-217dfe3574d04e97b3f64d4b18f33846 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-217dfe3574d04e97b3f64d4b18f338462025-02-03T07:23:52ZengWileyJournal of Ophthalmology2090-004X2090-00582015-01-01201510.1155/2015/821918821918Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese PopulationKai Fang0Pei Gao1Jun Tian2Xueying Qin3Wenzhen Yu4Juan Li5Qing Chen6Lvzhen Huang7Dafang Chen8Yonghua Hu9Xiaoxin Li10Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Ophthalmology, Peking University People’s Hospital, Beijing 100044, ChinaBeijing Centers of Disease Control and Prevention, Beijing 100013, ChinaDepartment of Hygiene Toxicology, Preventive Medical College, Third Military Medical University, Chongqing 400038, ChinaDepartment of Ophthalmology, Peking University People’s Hospital, Beijing 100044, ChinaDepartment of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, ChinaDepartment of Ophthalmology, Peking University People’s Hospital, Beijing 100044, ChinaPurpose. 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.http://dx.doi.org/10.1155/2015/821918 |
| spellingShingle | Kai Fang Pei Gao Jun Tian Xueying Qin Wenzhen Yu Juan Li Qing Chen Lvzhen Huang Dafang Chen Yonghua Hu Xiaoxin Li Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population Journal of Ophthalmology |
| title | Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population |
| title_full | Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population |
| title_fullStr | Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population |
| title_full_unstemmed | Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population |
| title_short | Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population |
| title_sort | joint effect of cfh and arms2 htra1 polymorphisms on neovascular age related macular degeneration in chinese population |
| url | http://dx.doi.org/10.1155/2015/821918 |
| work_keys_str_mv | AT kaifang jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT peigao jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT juntian jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT xueyingqin jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT wenzhenyu jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT juanli jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT qingchen jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT lvzhenhuang jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT dafangchen jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT yonghuahu jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation AT xiaoxinli jointeffectofcfhandarms2htra1polymorphismsonneovascularagerelatedmaculardegenerationinchinesepopulation |