Singapore National Eye Centre, Singapore.
Singapore Eye Research Institute, Singapore.
Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):10. doi: 10.1167/iovs.64.2.10.
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.
在一个基于人群的多民族亚洲队列中，确定与脉络膜厚度（CT）差异相关的遗传等位基因。
对一个无视网膜病变的基于人群的多民族亚洲队列进行光谱域 OCT（SD-OCT）和 CFH、VIPR2、ARMS2 和 CETP 风险等位基因的基因分型。从 SD-OCT 评估中心凹下脉络膜厚度（SFCT）值，并确定每个队列中与风险等位基因的关联。
共前瞻性纳入 1045 名健康亚洲个体（550 名中国人、147 名印度人、348 名马来人）。几个 CFH 等位基因（rs800292、rs1061170 和 rs1329428）与印度人的 SFCT 增加相关（+18.7 至+31.7 µm；P = 0.001-0.038），与马来人的 SFCT 略有减少相关（-12.7 至-20.6 µm；P = 0.014-0.022）。CFH 的单体型分析显示，种族之间 SFCT 的关联存在差异，H6 单体型与中国人队列中 SFCT 减少 29.08 µm（P = 0.02）相关，但与印度人群中 SFCT 增加 35.2 µm（P < 0.001）相关。最后，中国人队列的亚区分析确定了 CFH 风险等位基因 rs1061170 与鼻侧和上侧象限 CT 减少之间的关联（-20.2 至-25.8 µm；P = 0.003-0.027）。
CFH 变体在亚洲种族之间与 CT 有不同的关联。这对年龄相关性黄斑变性和中心性浆液性脉络膜病变等常见疾病的发病机制具有广泛的影响，这些疾病的发病机制与 CT 有关。
