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全基因组关联研究的荟萃分析确定了东亚人饱和脂肪酸的三个新基因座。

Meta-analysis of genome-wide association studies identifies three novel loci for saturated fatty acids in East Asians.

作者信息

Zhu Jingwen, Manichaikul Ani, Hu Yao, Chen Yii-Der I, Liang Shuang, Steffen Lyn M, Rich Stephen S, Tsai Michael, Siscovick David S, Lemaitre Rozenn N, Li Huaixing, Lin Xu

机构信息

The Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, China.

Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.

出版信息

Eur J Nutr. 2017 Jun;56(4):1477-1484. doi: 10.1007/s00394-016-1193-1. Epub 2016 Mar 1.

Abstract

PURPOSE

We aimed to characterize common genetic variants that influence saturated fatty acid concentrations in East Asians.

METHODS

Meta-analysis of genome-wide association studies for circulating SFAs was conducted in two population-based cohorts comprising 3521 participants of Chinese ancestry.

RESULTS

We identified two novel 14:0-associated loci at LMX1A (LIM homeobox transcription factor 1) and AMPD3 (AMP deaminase 3) (P = 5.08 × 10 and P = 4.33 × 10, respectively), and a novel 20:0-associated locus at CERS4 (ceramide synthase 4) (P = 1.76 × 10). We also confirmed the previously reported association of FADS1/2-rs102275 with 18:0 (P = 1.12 × 10). In addition, the A alleles of rs11042834 in AMPD3 and rs17159388 in CERS4 also exhibited evidence of associations with high-density lipoprotein cholesterol (P = 0.0162 and P = 0.0161, respectively).

CONCLUSIONS

To our knowledge, this is the first GWAS analysis to examine SFA concentrations in East Asian populations. Our findings provide novel evidence that genetic variations of several genes from multiple pathways are associated with SFA concentrations in human body.

摘要

目的

我们旨在鉴定影响东亚人群饱和脂肪酸浓度的常见基因变异。

方法

对两个基于人群的队列进行了全基因组关联研究的荟萃分析,这两个队列共有3521名华裔参与者。

结果

我们在LMX1A(LIM同源框转录因子1)和AMPD3(AMP脱氨酶3)中鉴定出两个新的与14:0相关的基因座(P分别为5.08×10和4.33×10),以及在CERS4(神经酰胺合酶4)中鉴定出一个新的与20:0相关的基因座(P = 1.76×10)。我们还证实了先前报道的FADS1/2-rs102275与18:0的关联(P = 1.12×10)。此外,AMPD3中的rs11042834和CERS4中的rs17159388的A等位基因也显示出与高密度脂蛋白胆固醇相关的证据(P分别为0.0162和0.0161)。

结论

据我们所知,这是首次在东亚人群中进行的关于饱和脂肪酸浓度的全基因组关联研究分析。我们的研究结果提供了新的证据,表明来自多个途径的几个基因的遗传变异与人体饱和脂肪酸浓度有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/559a/5374030/9a787d125f5c/nihms846187f1.jpg

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