BCMO1 基因变异对年轻健康白种人黄斑色素密度的影响。
The Effect of BCMO1 Gene Variants on Macular Pigment Optical Density in Young Healthy Caucasians.
机构信息
Medical Retina Laboratory, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology , Brisbane, QLD , Australia ; School of Biomedical Sciences, Queensland University of Technology , Brisbane, QLD , Australia.
Medical Retina Laboratory, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology , Brisbane, QLD , Australia ; School of Optometry and Vision Science, Queensland University of Technology , Brisbane, QLD , Australia.
出版信息
Front Nutr. 2014 Dec 4;1:22. doi: 10.3389/fnut.2014.00022. eCollection 2014.
BACKGROUND
Serum lutein (L) and zeaxanthin (Z) positively correlate with macular pigment optical density (MPOD); hence, the latter is a valuable indirect tool for measuring L and Z content in the macula. L and Z have been attributed antioxidant capacity and protection from certain retinal diseases but their uptake within the eye is thought to depend on genetic, age, and environmental factors. In particular, gene variants within beta-carotene monooxygenase (BCMO1) are thought to modulate MPOD in the macula.
OBJECTIVES
To determine the effect of BCMO1 single nucleotide polymorphisms (SNPs) rs11645428, rs6420424, and rs6564851 on MPOD in a cohort of young healthy participants of Caucasian origin with normal ocular health.
DESIGN
In this cohort study, MPOD was assessed in 46 healthy participants (22 male and 24 female) with a mean age of 23.8 ± 4.0 years (range 19-33). The three SNPs, rs11645428, rs6420424, rs6564851 that have established associations with MPOD were determined using MassEXTEND (hME) Sequenom assay. One-way analysis of variance was performed on groups segregated into homozygous and heterozygous BCMO1 genotypes. Correlations between body mass index (BMI), iris color, gender, central retinal thickness (CRT), diet, and MPOD were investigated.
RESULTS
Macular pigment optical density neither significantly varied with BCMO1 rs11645428 (F 2,41 = 0.70, p = 0.503), rs6420424 (F 2,41 = 0.21, p = 0.801) nor rs6464851 homozygous or heterozygous genotypes (F 2,41 = 0,13, p = 0.88), in this young healthy cohort. The combination of these three SNPs into triple genotypes based on plasma conversion efficiency did not affect MPOD (F 2,41 = 0.07, p = 0.9). There was a significant negative correlation with MPOD and CRT (r = -0.39, p = 0.01) but no significant correlation between BMI, iris color, gender, and MPOD.
CONCLUSION
Our results indicate that macular pigment deposition within the central retina is not dependent on BCMO1 gene variants in young healthy people. We propose that MPOD is saturated in younger persons and/or other gene variant combinations determine its deposition.
背景
血清中叶黄素（L）和玉米黄质（Z）与黄斑色素光学密度（MPOD）呈正相关；因此，后者是测量黄斑中 L 和 Z 含量的一种有价值的间接工具。L 和 Z 具有抗氧化能力，可以预防某些视网膜疾病，但人们认为它们在眼睛内的摄取取决于遗传、年龄和环境因素。特别是，β-胡萝卜素单加氧酶（BCMO1）内的基因变异被认为可以调节黄斑中的 MPOD。
目的
在一组来自欧洲血统的年轻健康参与者中，评估 BCMO1 单核苷酸多态性（SNP）rs11645428、rs6420424 和 rs6564851 对 MPOD 的影响，这些参与者的眼部健康正常。
设计
在这项队列研究中，使用 MassEXTEND（hME）Sequenom 测定法测定了 46 名健康参与者（22 名男性和 24 名女性）的 MPOD，平均年龄为 23.8±4.0 岁（19-33 岁）。使用 MassEXTEND（hME）Sequenom 测定法确定了与 MPOD 相关的三个 SNP：rs11645428、rs6420424 和 rs6564851。对分为 BCMO1 纯合子和杂合子基因型的组进行单因素方差分析。研究了体重指数（BMI）、虹膜颜色、性别、中心视网膜厚度（CRT）、饮食与 MPOD 之间的相关性。
结果
在这个年轻健康的队列中，MPOD 与 BCMO1 rs11645428（F2,41=0.70，p=0.503）、rs6420424（F2,41=0.21，p=0.801）或 rs6464851 纯合子或杂合子基因型均无显著差异（F2,41=0.13，p=0.88）。基于血浆转化效率将这三个 SNP 组合成三重基因型，并未影响 MPOD（F2,41=0.07，p=0.9）。MPOD 与 CRT 呈显著负相关（r=-0.39，p=0.01），但 BMI、虹膜颜色、性别与 MPOD 之间无显著相关性。
结论
我们的结果表明，在年轻健康人群中，中心视网膜内的黄斑色素沉积并不依赖于 BCMO1 基因突变。我们提出，MPOD 在年轻人中已经饱和，或者其他基因变异组合决定了它的沉积。
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