Yuan Ming-Zhen, Han Ruo-An, Zhang Chen-Xi, Chen You-Xin
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
J Ophthalmol. 2018 Jun 6;2018:9538671. doi: 10.1155/2018/9538671. eCollection 2018.
To assess the association of genes in the high-density lipoprotein metabolic pathway (HDLMP) with polypoidal choroidal vasculopathy (PCV) and the genetic difference in the HDLMP between PCV and age-related macular degeneration (AMD).
We performed a literature search in EMBASE, PubMed, and Web of Science for genetic studies on 7 single nucleotide polymorphisms (SNPs) from 5 genes in the HDLMP including cholesteryl ester transfer protein (CETP), hepatic lipase (LIPC), lipoprotein lipase (LPL), ATP-binding cassette transporter A1 (ABCA1), and ATP-binding cassette transporter G1 (ABCG1) in PCV. All studies were published before September 30, 2017, without language restriction. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) of each polymorphism were estimated. We also compared the association profiles between PCV and AMD and performed a sensitivity analysis.
Our result is based on 43 articles. After excluding duplicates and articles without complete information, 7 studies were applicable to meta-analysis. 7 polymorphisms were meta-analyzed: CETP rs2303790/rs3764261, LIPC rs10468017/rs493258, LPL rs12678919, ABCA1 rs1883025, and ABCG1 rs57137919. We found that in Asian population, CETP rs3764261 (T allele; OR = 1.46; 95% CI: 1.28-1.665, < 0.01), CETP rs2303790 (G allele; OR = 1.57; 95% CI: 1.258-1.96, < 0.01), and ABCG1 rs57137919 (A allele; OR = 1.168; 95% CI: 1.016-1.343, < 0.01) were significantly associated with PCV, and ABCG1 rs57137919 (A allele; OR = 1.208, 95% CI: 1.035-1.411, < 0.01) has different effects in PCV and AMD. The other 4 polymorphisms in LIPC/LPL/ABCA1 had no significant association with PCV ( > 0.05). The sensitivity analysis validated the significance of our analysis.
Our study revealed 7 polymorphisms in 5 genes. Among them, CETP (rs3764261/rs2303790) and ABCG1 (rs57137919) were the major susceptibility genes for PCV in Asian population and ABCG1 (rs57137919) showed allelic diversity between PCV and AMD. Since the size for PCV and AMD was small, we need to study these genes genotyping in larger samples.
评估高密度脂蛋白代谢途径（HDLMP）中的基因与息肉状脉络膜血管病变（PCV）的关联，以及PCV与年龄相关性黄斑变性（AMD）之间HDLMP的基因差异。
我们在EMBASE、PubMed和Web of Science中进行文献检索，以查找关于HDLMP中5个基因的7个单核苷酸多态性（SNP）的遗传学研究，这些基因包括胆固醇酯转运蛋白（CETP）、肝脂酶（LIPC）、脂蛋白脂肪酶（LPL）、ATP结合盒转运体A1（ABCA1）和ATP结合盒转运体G1（ABCG1）在PCV中的情况。所有研究均在2017年9月30日前发表，无语言限制。估计每个多态性的合并比值比（OR）和95%置信区间（CI）。我们还比较了PCV和AMD之间的关联谱，并进行了敏感性分析。
我们的结果基于43篇文章。在排除重复文章和信息不完整的文章后，7项研究适用于荟萃分析。对7个多态性进行了荟萃分析：CETP rs2303790/rs3764261、LIPC rs10468017/rs493258、LPL rs12678919、ABCA1 rs1883025和ABCG1 rs57137919。我们发现，在亚洲人群中，CETP rs3764261（T等位基因；OR = 1.46；95% CI：1.28 - 1.665，P < 0.01）、CETP rs2303790（G等位基因；OR = 1.57；95% CI：1.258 - 1.96，P < 0.01）和ABCG1 rs57137919（A等位基因；OR = 1.168；95% CI：1.016 - 1.343，P < 0.01）与PCV显著相关，并且ABCG1 rs57137919（A等位基因；OR = 1.208，95% CI：1.035 - 1.411，P < 0.01）在PCV和AMD中有不同影响。LIPC/LPL/ABCA1中的其他4个多态性与PCV无显著关联（P > 0.05）。敏感性分析验证了我们分析的显著性。
我们研究揭示了5个基因中的7个多态性。其中CETP（rs3764261/rs2303790）和ABCG1（rs57137919）是亚洲人群中PCV的主要易感基因，并且ABCG1（rs57137919）在PCV和AMD之间表现出等位基因多样性。由于PCV和AMD的样本量较小，我们需要在更大样本中研究这些基因的基因分型。
