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学科主题临床医学
Effect of High-Density Lipoprotein Metabolic Pathway Gene Variations and Risk Factors on Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in China
Meng, Qingyu1,2,3; Huang, Lvzhen1,2,3; Sun, Yaoyao1,2,3; Bai, Yujing1,2,3; Wang, Bin1,2,3; Yu, Wenzhen1,2,3; Zhao, Mingwei1,2,3; Li, Xiaoxin1,2,3
刊名PLOS ONE
2015-12-01
DOI10.1371/journal.pone.0143924
10期:12
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]ESTER TRANSFER PROTEIN ; CARDIOVASCULAR-DISEASE ; SUSCEPTIBILITY GENES ; ASSOCIATION ; VARIANTS ; POPULATION ; PREVALENCE ; LOCI ; MACULOPATHY ; POLYMORPHISMS
英文摘要

Purpose

To investigate the effect of genetic variants in the high-density lipoprotein (HDL) metabolic pathway and risk factors on neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in China.

Methods

A total of 742 Chinese subjects, including 221 controls, 230 cases with nAMD, and 291 cases with PCV, were included in the present study. Five single nucleotide polymorphisms (SNPs) from three genes in the HDL metabolic pathway (HDLMP) including cholesteryl ester transfer protein (CETP), hepatic lipase (LIPC) and lipoprotein lipase (LPL) were genotyped in all study subjects with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Risk factors including gender, hypertension, hyperlipidemia, diabetes mellitus, and coronary artery disease were identified. Chi-square tests or Fisher′s exact tests were applied to discover associations between SNPs and risk factors for PCV and nAMD. Gene-gene interactions and gene-environment interactions were evaluated by the multifactor-dimensionality reduction (MDR) method.

Results

CETP rs3764261 were significantly associated with an increased risk for PCV (odds ratio (OR) = 1.444, P = 0.0247). LIPC rs1532085 conferred an increased risk for PCV (OR = 1.393, P = 0.0094). We found no association between PCV and LPL rs12678919, LIPC rs10468017 or CETP rs173539. No association was found between five SNPs with nAMD. Regarding risk factors, females were found to have significantly decreased risks for both PCV and nAMD (P = 0.006 and 0.001, respectively). Coronary artery disease (CAD) was a risk factor in PCV patients but played a protective role in nAMD patients. Hyperlipidemia was associated with PCV but not with nAMD. Neither hypertension nor diabetes mellitus was associated with PCV or nAMD. The MDR analysis revealed that a three-locus model with rs12678919, rs1532085, and gender was the best model for nAMD, while a five-locus model consisting of rs10468017, rs3764261, rs1532085, gender, and hyperlipidemia was best for PCV.

Conclusion

Our large-sample study suggested that CETP rs3764261 conferred an increased risk for PCV. We also first found the association between rs1532085 and PCV. The result of present study also showed that gender and CAD are associated with PCV and nAMD. Significant association was found between hyperlipidemia and PCV but not nAMD.

语种英语
WOS记录号WOS:000365891600076
项目编号2011CB510200 ; 81100666 ; 81170854 ; Z121100005312006
资助机构National Basic Research Program of China (973 Program) ; National Natural Science Foundation of China ; Research Fund for Science and Technology Program of Beijing
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54897
专题北京大学第二临床医学院_眼科
作者单位1.Minist Educ, Key Lab Vis Loss & Restorat, Beijing, Peoples R China
2.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100871, Peoples R China
3.Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Meng, Qingyu,Huang, Lvzhen,Sun, Yaoyao,et al. Effect of High-Density Lipoprotein Metabolic Pathway Gene Variations and Risk Factors on Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in China[J]. PLOS ONE,2015,10(12).
APA Meng, Qingyu.,Huang, Lvzhen.,Sun, Yaoyao.,Bai, Yujing.,Wang, Bin.,...&Li, Xiaoxin.(2015).Effect of High-Density Lipoprotein Metabolic Pathway Gene Variations and Risk Factors on Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in China.PLOS ONE,10(12).
MLA Meng, Qingyu,et al."Effect of High-Density Lipoprotein Metabolic Pathway Gene Variations and Risk Factors on Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in China".PLOS ONE 10.12(2015).
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