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学科主题临床医学
TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population
Guo, Jing1,2; Li, Haiping2,3; Zhang, Chunfang4; Sun, Yaoyao1,2; Deng, Xun1,2; Bai, YuJing1,2; Li, Shanshan1,2; Zhao, Min1,2; Miao, Heng1,2; Yu, Wenzhen1,2; Wang, Bin1,2; Huang, Lvzhen1,2; Li, Xiaoxin1,2
刊名MOLECULAR VISION
2013-09-27
19页:2050-2057
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Ophthalmology
研究领域[WOS]Biochemistry & Molecular Biology ; Ophthalmology
关键词[WOS]GENOME-WIDE ASSOCIATION ; ALZHEIMERS-DISEASE ; APOLIPOPROTEIN-E ; SUSCEPTIBILITY GENES ; JAPANESE POPULATION ; QUANTITATIVE TRAIT ; VARIANTS ; GENOTYPE ; MACULOPATHY ; DRUSEN
英文摘要

Purpose: Age-related macular degeneration (AMD) and Alzheimer disease (AD) are age-related neurodegenerative diseases that share similar environmental risk factors, cellular pathologies, and genetic backgrounds. Recently, the rs2075650 single nucleotide polymorphism in the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene was identified as a risk factor for AMD and Alzheimer disease. We aimed to examine the associations between the TOMM40 rs2075650 polymorphism and neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese population.

Methods: The study consisted of 900 subjects, including 300 controls, 300 cases with nAMD, and 300 cases with PCV. Genomic DNA was extracted from venous blood leukocytes. The allelic variant of rs2075650 was determined with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Differences in the observed genotypic distributions between the case and control groups were tested using chi-square tests, with age and gender adjusted using logistic regression analysis.

Results: The TOMM40 rs2075650 polymorphism was not statistically significantly associated with the nAMD or PCV phenotype (p>0.05). The difference remained insignificant after correction for age and gender differences based on the logistic regression models (p>0.05).

Conclusions: Our data provide no evidence to support an association of rs2075650 in TOMM40 with nAMD or PCV, suggesting that this gene is unlikely to be a major AMD and PCV susceptibility gene locus in the Chinese population.

语种英语
WOS记录号WOS:000325180600001
引用统计
被引频次:3[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/400002259/54348
专题北京大学第二临床医学院_眼科
北京大学第二临床医学院_检验科
作者单位1.Peking Univ, Peoples Hosp, Dept Ophthalmol, Beijing 100044, Peoples R China
2.Minist Educ, Key Lab Vis Loss & Restorat, Beijing, Peoples R China
3.Peking Univ, Hosp 3, Ctr Eye, Beijing 100044, Peoples R China
4.Peking Univ, Peoples Hosp, Dept Clin Epidemiol, Beijing 100044, Peoples R China
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GB/T 7714
Guo, Jing,Li, Haiping,Zhang, Chunfang,et al. TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population[J]. MOLECULAR VISION,2013,19:2050-2057.
APA Guo, Jing.,Li, Haiping.,Zhang, Chunfang.,Sun, Yaoyao.,Deng, Xun.,...&Li, Xiaoxin.(2013).TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population.MOLECULAR VISION,19,2050-2057.
MLA Guo, Jing,et al."TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population".MOLECULAR VISION 19(2013):2050-2057.
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