Domarkienė Ingrida, Mažeikienė Asta, Petrauskaitė Guostė, Kučinskienė Zita Aušrelė, Kučinskas Vaidutis
Department of Human and Medical Genetics Faculty of Medicine Institute of Biomedical Sciences Vilnius University Vilnius Lithuania.
Department of Physiology Biochemistry, Microbiology and Laboratory Medicine Faculty of Medicine Institute of Biomedical Sciences Vilnius University Vilnius Lithuania.
Food Sci Nutr. 2022 Jan 8;10(3):763-771. doi: 10.1002/fsn3.2705. eCollection 2022 Mar.
Variation in carotenoid bioavailability at individual and population levels might depend on host-related factors where genetic variation has a part to play. It manifests itself through the proteins involved in carotenoid intestinal absorption and metabolism, blood lipoprotein transport, or tissue uptake. This study aims to identify novel SNPs which could be associated with carotenoid serum concentrations. A total of 265 self-reported healthy individuals of Lithuanian origin were genotyped (Illumina HumanOmniExpress-12v1.0 or v1.1 and Infinium OmniExpress-24v1.2 arrays) and fasting blood serum concentrations of β- and α-carotene, β-cryptoxanthin, lycopene, lutein, and zeaxanthin were measured (Shimadzu Prominence HPLC system). According to the individual carotenoid concentrations, the cohort was subdivided into quartiles. Q1 and Q4 were used for the following association analysis. The set of 2883 SNPs in 109 potential candidate genes (assumed for a direct or indirect role in carotenoid bioavailability) was analyzed. Liver X receptor alpha () "transport" polymorphisms rs2279238 ( = 2.129 × 10) and rs11039155 ( = 2.984 × 10), and apolipoprotein B () "transport" polymorphism rs550619 ( = 4.844 × 10) were associated with higher zeaxanthin concentration. Retinol dehydrogenase 12 () "functional partner" polymorphism rs756473 ( = 7.422 × 10) was associated with higher lycopene concentration. Twenty-one cytochrome P450 (, and ) "metabolism" polymorphisms in locus 10q23.33 were significantly associated with higher β-carotene concentration. To conclude, four novel genomic loci were found to be associated with carotenoid serum levels. Zeaxanthin, lycopene, and β-carotene serum concentrations might depend on genetic variation in , , and and genes.
个体和群体水平上类胡萝卜素生物利用度的差异可能取决于宿主相关因素，其中遗传变异起着一定作用。它通过参与类胡萝卜素肠道吸收和代谢、血液脂蛋白运输或组织摄取的蛋白质表现出来。本研究旨在鉴定可能与类胡萝卜素血清浓度相关的新型单核苷酸多态性（SNP）。对总共265名自我报告为立陶宛血统的健康个体进行基因分型（Illumina HumanOmniExpress - 12v1.0或v1.1以及Infinium OmniExpress - 24v1.2芯片），并测量空腹血清中β - 胡萝卜素、α - 胡萝卜素、β - 隐黄质、番茄红素、叶黄素和玉米黄质的浓度（岛津Prominence高效液相色谱系统）。根据个体类胡萝卜素浓度，将队列分为四分位数。Q1和Q4用于以下关联分析。分析了109个潜在候选基因（假定在类胡萝卜素生物利用度中起直接或间接作用）中的2883个SNP。肝脏X受体α（LXRα）“转运”多态性rs2279238（P = 2.129×10⁻⁵）和rs11039155（P = 2.984×10⁻⁵），以及载脂蛋白B（APOB）“转运”多态性rs550619（P = 4.844×10⁻⁵）与较高的玉米黄质浓度相关。视黄醇脱氢酶12（RDH12）“功能伙伴”多态性rs756473（P = 7.422×10⁻⁵）与较高的番茄红素浓度相关。位于10q23. [具体基因未明确写出]的21个细胞色素P450（CYP2C9、CYP2C19和CYP2J2）“代谢”多态性与较高的β - 胡萝卜素浓度显著相关。总之，发现四个新的基因组位点与类胡萝卜素血清水平相关。玉米黄质、番茄红素和β - 胡萝卜素血清浓度可能取决于LXRα、APOB、RDH12和细胞色素P450基因的遗传变异。
