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Genetic Variability of Complement Factor H Has Ethnicity-Specific Associations With Choroidal Thickness

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机构: [1]Singapore National Eye Centre, Singapore. [2]Singapore Eye Research Institute, Singapore. [3]Department of Ophthalmology, Asahikawa Medical University, Asahikawa, Hokkaido, Japan. [4]Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland. [5]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China. [6]School of Medicine, Tsinghua University, Beijing, China. [7]Center for Quantitative Medicine, Duke-NUS Graduate Medical School, Singapore.
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关键词: retina choroid genetics age-related macular degeneration AMD pachychoroid polypoidal choroidal vasculopathy risk allele

摘要:
To identify genetic alleles associated with differences in choroidal thickness (CT) in a population-based multiethnic Asian cohort.A population-based multiethnic Asian cohort without retinal pathology was subjected to spectral-domain OCT (SD-OCT) and genotyping of risk alleles in CFH, VIPR2, ARMS2, and CETP. Subfoveal choroidal thickness (SFCT) values were assessed from SD-OCT, and associations with the risk alleles were determined for each cohort.A total of 1045 healthy Asian individuals (550 Chinese, 147 Indians, 348 Malays) were prospectively enrolled in the study. Several CFH alleles (rs800292, rs1061170, and rs1329428) were associated with increased SFCT in Indians (+18.7 to +31.7 µm; P = 0.001-0.038) and marginally associated with decreased SFCT in Malays (-12.7 to -20.6 µm; P = 0.014-0.022). Haplotype analysis of CFH revealed variable associations with SFCT among races, with the H6 haplotype being associated with a 29.08-µm reduction in SFCT in the Chinese cohort (P = 0.02) but a 35.2-µm increase in SFCT in the Indian cohort (P < 0.001). Finally, subfield analysis of the Chinese cohort identified associations between the CFH risk allele rs1061170 and reduced CT in the nasal and superior sectors (-20.2 to -25.8 µm; P = 0.003-0.027).CFH variants are variably associated with CT among Asian ethnic groups. This has broad implications for the pathogenesis of common diseases such as age-related macular degeneration and central serous choroidopathy, the pathogenesis of which is associated with CT.

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出版当年[2022]版:
大类 | 2 区 医学
小类 | 2 区 眼科学
最新[2023]版:
大类 | 2 区 医学
小类 | 2 区 眼科学
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出版当年[2021]版:
Q1 OPHTHALMOLOGY
最新[2023]版:
Q1 OPHTHALMOLOGY

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第一作者机构: [1]Singapore National Eye Centre, Singapore. [2]Singapore Eye Research Institute, Singapore.
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通讯机构: [1]Singapore National Eye Centre, Singapore. [2]Singapore Eye Research Institute, Singapore. [*1]Singapore National Eye Centre, 11 Third Hospital Avenue, Singapore 168751, Singapore
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