AUTHOR=Liao Fei , Ye Yuanxin , Yin Dandan , Qin Yun , Zhao Jiangyan , Zhang Wanhua , Zhang Yan , Deng Zhujun , Wang Yuelan , Ying Binwu , Wang Lanlan , Gao Ju , Shu Yang , Zhu Yiping , Lu Xiaoxi 

TITLE=Validations of Top and Novel Susceptibility Variants in All-Age Chinese Patients With Acute Lymphoblastic Leukemia

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.01004

DOI=10.3389/fgene.2020.01004

ISSN=1664-8021

ABSTRACT=<p>Through genome-wide association studies (GWAS), multiple inherited predispositions to acute lymphoblastic leukemia (ALL) have been identified in children. Most recently, a novel susceptibility locus at <italic>ERG</italic> was localized, exhibiting Hispanic-specific manner. In this study, we conducted a replication study to in all-age Chinese patients (<italic>N</italic> = 451), not only validating the novel <italic>ERG</italic> locus, but also systematically determining the impact of age on association status of the top GWAS signals. We found that single nucleotide polymorphisms at <italic>ARID5B</italic>, <italic>IKZF1</italic>, <italic>CEBPE</italic>, <italic>PIP4K2A</italic> were only significantly associated with ALL susceptibility in childhood patients with no <italic>BCR-ABL</italic> fusion, while <italic>GATA3</italic> signal exhibited its significance in adults no matter carrying <italic>BCR-ABL</italic> fusion or not. Moreover, the novel <italic>ERG</italic> SNP can be validated in pediatric patients without both <italic>BCR-ABL</italic> and <italic>ETV6-RUNX1</italic> fusion. Our finding suggests the modifying effects of age on genetic predisposition to ALL, and highlights the impact of <italic>ERG</italic> SNP in Chinese patients.</p>