Associations of systemic, serum lipid and lipoprotein metabolic pathway gene variations with polypoidal choroidal vasculopathy in China

• Published in: PloS one Vol. 14; no. 12; p. e0226763
• Main Authors: Xu, Ningda, Xu, Hui, Zhao, Mingwei, Xu, Yongsheng, Huang, Lvzhen
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 26.12.2019; Public Library of Science (PLoS)
• Subjects: Age; Aged; Alleles; Apolipoprotein B; Apolipoproteins; Asian Continental Ancestry Group - genetics; Asthma; Biology and Life Sciences; Blood lipids; Cardiovascular disease; Case-Control Studies; CETP gene; China - epidemiology; Cholesterol; Cholesterol ester transfer protein; Cholesteryl ester transfer protein; Chromosomes; Control methods; Coronary artery; Coronary artery disease; Coronary heart disease; Density; Deoxyribonucleic acid; Diabetes; Diabetes mellitus; Diabetic retinopathy; DNA; Eye diseases; Female; Genes; Genetic aspects; Genetic diversity; Genetic polymorphisms; Genetic Predisposition to Disease; Genetic testing; Genetic variance; Health risks; Heart diseases; High density lipoprotein; Hospitals; Humans; Hyperlipidemia; Hyperlipidemias - blood; Hyperlipidemias - complications; Hyperlipidemias - genetics; Hyperlipidemias - metabolism; Hypertension; Ionization; Laboratories; Level (quantity); Lipase; Lipid Metabolism; Lipids; Lipids - blood; Lipids - genetics; Lipoprotein lipase; Lipoproteins; Lipoproteins (high density); Lipoproteins (low density); Lipoproteins - blood; Lipoproteins - genetics; Lipoproteins - metabolism; Low density lipoprotein; Low density lipoproteins; Male; Mass spectrometry; Mass spectroscopy; Medical imaging; Medicine and Health Sciences; Metabolic Networks and Pathways; Metabolic pathways; Metabolism; Middle Aged; Nucleotides; Optometry; Polymorphism, Single Nucleotide; Risk analysis; Risk factors; Serum levels; Serum lipids; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Spectroscopy; Studies; Triglycerides; Vascular diseases; Vascular Diseases - blood; Vascular Diseases - epidemiology; Vascular Diseases - genetics; Vascular Diseases - metabolism; China; Beijing China; United States > US
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0226763

To investigate the association of systemic, serum lipids and genetic variants in the high-density lipoprotein (HDL) metabolic pathway with polypoidal choroidal vasculopathy (PCV) in China. The case-control study was included 150 controls and 66 cases with PCV. Serum levels of total cholesterol (TC), low-density lipoprotein (LDL), HDL, triglycerides (TG), apolipoprotein A1 (APOA1), apolipoprotein B (APOB) together with systemic risk factors including gender, hyperlipidemia, diabetes mellitus (DM), hypertension, coronary artery disease (CAD) and asthma were identified. All subjects were genotyped for four single nucleotide polymorphisms (SNPs) from three genes in the HDL metabolic pathway: rs10468017 of hepatic lipase (LIPC), rs12678919 of lipoprotein lipase (LPL), rs3764261 and rs173539 of cholesterol ester transfer protein (CETP) with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Student's t-tests, chi-square tests, anova and logistic regression were used to evaluate associations. Hyperlipidemia was a risk factor (odds ratio (OR) = 1.19, P = 0.001) for PCV. HDL, LDL and APOB levels were associated with PCV (OR = 0.001, P = 0.004; OR = 0.099, P = 0.010; OR = 0.839, P = 0.018). Higher level of TC was potently associated with increased risk of PCV (OR = 109.8, P = 0.000). LIPC rs10468017 was a risk factor for PCV (OR = 11.68, P = 0.000). CETP rs3764261 conferred a decreased risk for PCV (OR = 0.08, P = 0.000). No associations of LPL rs12678919 or CETP rs173539 with PCV were found. Mean level of HDL increased with T allele of the CETP gene (p = 0.026): 1.24 mmol/L (±0.31) for the GG genotype and 1.66 mmol/L (±0.54) for the TT genotype. Additionally, T allele was associated with the following increase in APOA1: 136.78 mg/dl (±20.53) for the CC genotype and 149.57 mg/dl (±22.67) for the TT genotype of LIPC and 137.91 mg/dl (±20.36) for the GG genotype and 162.67 mg/dl (±22.50) for the TT genotype of CETP gene. Our study suggested that the significant association was found between hyperlipidemia, the serum levels of TC, HDL, LDL and APOB and PCV. The result of present study also showed that the association of LIPC rs10468017 and CETP rs3764261 with PCV.