Functional variations in the JWA gene are associated with increased odds of leukemias.
The association between the -76G>C in the 5'-flanking region and 723T>G in JWA exon three variants were examined for risk of leukemia development in a hospital-based case-control study of 201 leukemia patients and 243 cancer-free controls in a Chinese population. Studies showed that the -76C allele was associated with significantly increased odds of leukemia but the 723G allele was correlated with marked decreased odds of leukemia. Variation in the -76C allele resulted in almost complete loss of oxidative stress stimulated transcription activities of the promoter fragment.
Shen
Qun
Q
Department of Molecular Cell Biology and Toxicology, School of Public Health, Nanjing Medical University,140 Hanzhong Road, Nanjing 210029, People's Republic of China.
Tang
Wei-Yan
WY
Li
Chun-Ping
CP
Chen
Rui
R
Zhu
Yu-Jie
YJ
Huang
Shu
S
Li
Ai-Ping
AP
Zhou
Jian-Wei
JW
D000328:Adult; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007938:Leukemia / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D018384:Oxidative Stress / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012189:Retrospective Studies; D014158:Transcription, Genetic
C484566:ARL6IP5 protein, human; D006360:Heat-Shock Proteins; D047908:Intracellular Signaling Peptides and Proteins; D026901:Membrane Transport Proteins