title: No evidence of association between variant rs2075650 in lipid metabolism-related locus APOE/TOMM40 and advanced age-related macular degeneration in Han Chinese population.
abstract: Age-related macular degeneration (AMD) is a late-onset, neurodegenerative disease. Genes related to lipid metabolism are important in AMD pathogenesis. Recently, a variant rs2075650 located in lipid metabolism-related locus APOE/TOMM40 was identified to be associated with advanced AMD and early AMD, respectively, in two genome-wide association studies with European ancestry, while no association study between rs2075650 and overall advanced AMD in Chinese population has been conducted before. We evaluated the potential effect of this variant on advanced AMD in a Han Chinese cohort with 204 advanced AMD patients and 1536 healthy controls. The results suggested that rs2075650 was neither associated with advanced AMD in allele level (P = 0.348) nor in genotype level (P = 0.890 under additive model with age and sex adjusted). In conclusion, our study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population.
authors.affiliation: Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, PR China.
authors.forename: Mengyuan
authors.initials: M
authors.lastname: Kan
authors.affiliation: Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, PR China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Weng
authors.affiliation: Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, PR China.
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.affiliation: Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, PR China.
authors.forename: Fatao
authors.initials: F
authors.lastname: Liu
authors.affiliation: Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, PR China.
authors.forename: Junyi
authors.initials: J
authors.lastname: Ye
authors.affiliation: Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, PR China.
authors.forename: Hong
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Bio-X Institute, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai 200030, PR China.
authors.forename: Mingqing
authors.initials: M
authors.lastname: Xu
authors.affiliation: Bio-X Institute, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai 200030, PR China.
authors.forename: Daizhan
authors.initials: D
authors.lastname: Zhou
authors.affiliation: Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, PR China Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, PR China Bio-X Institute, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai 200030, PR China helin@bio-x.cn superliuyun@gmail.com.
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.affiliation: Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, PR China helin@bio-x.cn superliuyun@gmail.com.
authors.forename: Yun
authors.initials: Y
authors.lastname: Liu
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D002681:China / Q000208:ethnology; D015331:Cohort Studies; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000208:ethnology / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D011110:Polymorphism, Genetic
chemical_list: D001057:Apolipoproteins E; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C400783:TOMM40 protein, human
keywords: APOE/TOMM40 locus; Age-related macular degeneration; Han Chinese population; association study; lipid metabolism-related genes