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A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene 期刊论文

编号：

c4f8c180-7cda-47b6-be5f-1c21e3d73968
作者：

Guo, Shicheng^[1];Jiang, Shuai^[2,3];Epperla, Narendranath^[4];Ma, Yanyun^[2,3];Maadooliat, Mehdi^[1,5];Ye, Zhan^[6];Olson, Brent^[6];Wang, Minghua^[7];Kitchner, Terrie^[1];Joyce, Jeffrey^[1];An, Peng^[8];Wang, Fudi^[9];Strenn, Robert^[6];Mazza, Joseph J.^[10];Meece, Jennifer K.^[11];Wu, Wenyu(吴文育)^[12]Jin, Li^[2,3];Smith, Judith A.^[13];Wang, Jiucun^[2,3,14];Schrodi, Steven J.^[1,15];
语种：

英文
期刊：

BLOOD ISSN：0006-4971 2019 年 133 卷 17 期 (1888 - 1898) ; APR 25
收录：
摘要：

Standard analyses applied to genome-wide association data are well designed to detect additive effects of moderate strength. However, the power for standard genome-wide association study (GWAS) analyses to identify effects from recessive diplotypes is not typically high. We proposed and conducted a gene-based compound heterozygosity test to reveal additional genes underlying complex diseases. With this approach applied to iron overload, a strong association signal was identified between the fibroblast growth factor-encoding gene, FGF6, and hemochromatosis in the central Wisconsin population. Functional validation showed that fibroblast growth factor 6 protein (FGF-6) regulates iron homeostasis and induces transcriptional regulation of hepcidin. Moreover, specific identified FGF6 variants differentially impact iron metabolism. In addition, FGF6 downregulation correlated with iron-metabolism dysfunction in systemic sclerosis and cancer cells. Using the recessive diplotype approach revealed a novel susceptibility hemochromatosis gene and has extended our understanding of the mechanisms involved in iron metabolism.
推荐引用方式
GB/T 7714：

Guo Shicheng,Jiang Shuai,Epperla Narendranath, et al. A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene [J].BLOOD,2019,133(17):1888-1898.
APA：

Guo Shicheng,Jiang Shuai,Epperla Narendranath,Ma Yanyun,&Schrodi Steven J..(2019).A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene .BLOOD,133(17):1888-1898.
MLA：

Guo Shicheng, et al. "A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene" .BLOOD 133,17(2019):1888-1898.

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