The GWAS SNP rs80207740 modulates erythrocyte traits via allele-specific binding of IKZF1 and targeting XPO7 gene.

doi:10.1096/fj.202302017R

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Article

The GWAS SNP rs80207740 modulates erythrocyte traits via allele-specific binding of IKZF1 and targeting XPO7 gene.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 31 May 2024

Hu Xinjun, Wang Jiaxin, Yang Ke, Fan Hong, Wu Jie, Ren Jiuqiang, Han Gaijing, Li Jing, Xue Zheng, Liu Xuehui, Lv Xiang

Abstract excerpt

Genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) associated with erythrocyte traits. However, the functional variants and their working mechanisms remain largely unknown. Here, we reported that the SNP of rs80207740, which was associated with red blood cell (RBC) volume and hemoglobin content across populations, conferred enhancer activity to XPO7 gene via...

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PMID: 38780091
DOI: 10.1096/fj.202302017R

Genes

IKZF1
XPO7
GATA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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