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Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations
Genes and Nutrition ( IF 3.5 ) Pub Date : 2020-03-13 , DOI: 10.1186/s12263-020-00663-3
Patrice Jones , Mark Lucock , George Chaplin , Nina G. Jablonski , Martin Veysey , Christopher Scarlett , Emma Beckett

The frequency of vitamin D-associated gene variants appear to reflect changes in long-term ultraviolet B radiation (UVB) environment, indicating interactions exist between the primary determinant of vitamin D status, UVB exposure and genetic disposition. Such interactions could have health implications, where UVB could modulate the impact of vitamin D genetic variants identified as disease risk factors. However, the current understanding of how vitamin D variants differ between populations from disparate UVB environments is limited, with previous work examining a small pool of variants and restricted populations only. Genotypic data for 46 variants within multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP27A1, CYP24A1, VDR, RXRα and RXRγ) was collated from 60 sample sets (2633 subjects) with European, East Asian and Sub-Saharan African origin via the NCBI 1000 Genomes Browser and ALFRED (Allele Frequency Database), with the aim to examine for patterns in the distribution of vitamin D-associated variants across these geographic areas. The frequency of all examined genetic variants differed between populations of European, East Asian and Sub-Saharan African ancestry. Changes in the distribution of variants in CYP2R1, CYP11A1, CYP24A1, RXRα and RXRγ genes between these populations are novel findings which have not been previously reported. The distribution of several variants reflected changes in the UVB environment of the population’s ancestry. However, multiple variants displayed population-specific patterns in frequency that appears not to relate to UVB changes. The reported population differences in vitamin D-related variants provides insight into the extent by which activity of the vitamin D system can differ between cohorts due to genetic variance, with potential consequences for future dietary recommendations and disease outcomes.

中文翻译:

欧洲,东亚和撒哈拉以南非洲裔人口在多个维生素D相关基因座(DHCR7 / NADSYN1GCCYP2R1CYP11A1CYP24A1VDRRXRαRXRγ)中的变异分布不同

维生素D相关基因变异的频率似乎反映了长期紫外线B辐射(UVB)环境的变化,表明维生素D状态,紫外线B暴露和遗传处置的主要决定因素之间存在相互作用。这种相互作用可能会对健康产生影响,其中UVB可以调节被确定为疾病危险因素的维生素D基因变异的影响。但是,目前对不同的UVB环境人群中维生素D变异体之间的区别的理解是有限的,以前的研究仅研究了少量变异体和受限制的种群。收集了来自60个样本集(2633个受试者)的60个样本(2633个受试者)的维生素D相关位点(DHCR7 / NADSYN1,GC,CYP2R1,CYP11A1,CYP27A1,CYP24A1,VDR,RXRα和RXRγ)中的46个变异的基因型数据。通过NCBI 1000基因组浏览器和ALFRED(等位基因频率数据库)起源于东亚和撒哈拉以南非洲地区,目的是检查在这些地理区域中维生素D相关变体的分布方式。在欧洲,东亚和撒哈拉以南非洲血统的所有种群之间,所有检查的遗传变异的频率均不同。在这些人群中,CYP2R1,CYP11A1,CYP24A1,RXRα和RXRγ基因变异的分布变化是新颖的发现,以前未见报道。几个变体的分布反映了人口血统的UVB环境的变化。但是,多个变体显示的特定人群模式的频率似乎与UVB变化无关。
更新日期:2020-04-22
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