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HTRA1 rs11528744, BCRA1 rs9928736, and B3GLCT rs4381465 are associated with age-related macular degeneration in a Chinese population

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机构: [1]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Human Dis Genes Key Lab Sichuan Prov, Chengdu, Sichuan, Peoples R China [2]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Inst Lab Med, Chengdu, Sichuan, Peoples R China [3]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Dept Hlth Management, Chengdu, Sichuan, Peoples R China [4]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Res Unit Blindness Prevent Chinese Acad Med Sci 20, Chengdu, Sichuan, Peoples R China [5]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Dept Ophthalmol, Chengdu, Sichuan, Peoples R China [6]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China
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关键词: single nucleotide polymorphisms (SNPs) age-related macular degeneration (AMD) case-control study HTRA1 BCRA1 B3GLCT

摘要:
Purpose: Age-related macular degeneration (AMD) is a leading cause of vision loss. A Previous study based on the co-localization analysis of the genome-wide association study (GWAS) and eQTL genetic signals have reported that single nucleotide polymorphisms (SNPs), including rs760975, rs11528744, rs3761159, rs7212510, rs6965458, rs7559693, rs56108400, rs28495773, rs9928736, rs11777697, rs4381465 are associated with AMD in Americans. The aim of this study was to investigate the association of these SNPs in a Han Chinese population. Methods: There were 576 patients with wet AMD and 572 healthy controls collected in this study. All SNPs were genotyped by flight mass spectrum. Hardy-Weinberg equilibrium was applied to evaluate allele distributions for both AMD and control groups. The genotype and allele frequencies were evaluated using the chi(2) tests. Odds ratio (OR) and 95% confidence intervals (95% CI) were calculated for the risk of genotype and allele. Results: Three of the 11 SNPs (rs11528744 in HTRA1, rs9928736 in BCRA1 and rs4381465 in B3GLCT) were found to be significantly associated with AMD in the allelic model (corrected p = 0.001, OR = 1.391, 95%CI = 1.179-1.640 for rs11528744; corrected p = 0.004, OR = 0.695, 95%CI = 0.544-0.888 for rs9928736; corrected p = 0.002, OR = 0.614, 95%CI = 0.448-0.841 for rs4381465). There were no differences for the remaining eight SNPs between AMD cases and healthy controls. Conclusion: Our results showed that HTRA1 rs11528744, BCRA1 rs9928736, and B3GLCT rs4381465 were associated with wet AMD, suggesting that HTRA1, BCRA1, and B3GLCT genes may be involved in the development of AMD.

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出版当年[2021]版:
大类 | 3 区 生物学
小类 | 3 区 遗传学
最新[2025]版:
大类 | 3 区 生物学
小类 | 3 区 遗传学
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出版当年[2020]版:
Q2 GENETICS & HEREDITY
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Q2 GENETICS & HEREDITY

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第一作者机构: [1]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Human Dis Genes Key Lab Sichuan Prov, Chengdu, Sichuan, Peoples R China [2]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Inst Lab Med, Chengdu, Sichuan, Peoples R China [3]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Dept Hlth Management, Chengdu, Sichuan, Peoples R China [4]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Res Unit Blindness Prevent Chinese Acad Med Sci 20, Chengdu, Sichuan, Peoples R China
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通讯机构: [1]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Human Dis Genes Key Lab Sichuan Prov, Chengdu, Sichuan, Peoples R China [2]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Inst Lab Med, Chengdu, Sichuan, Peoples R China [3]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Dept Hlth Management, Chengdu, Sichuan, Peoples R China [4]Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Res Unit Blindness Prevent Chinese Acad Med Sci 20, Chengdu, Sichuan, Peoples R China
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