GATA2 rs2335052 Polymorphism Predicts the Survival of Patients with Colorectal Cancer

Liu, Xijuan; Jiang, Beihai; Wang, Aidong; Di, Jiabo; Wang, Zaozao; Chen, Lei; Su, Xiangqian

doi:10.1371/journal.pone.0136020

Cited by 10 publications

(10 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although it was not a pathogenic variant and does not affect the zinc nger regions, the rs2335052 is located in a coding and regulatory region and may contribute to the GATA2 protein expression. This polymorphism has been previously associated with worse prognosis in a colon cancer study (12). It is unknown if the presence of this SNP may have contributed to the poor outcome of the cases.…”

Section: Discussionmentioning

confidence: 99%

GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil

Almeida¹,

Andrade²,

Santos-Bueno³

et al. 2020

Preprint

View full text Add to dashboard Cite

Background Non-tuberculous mycobacteria (NTM) and invasive fungal infections (IFI) may be considered opportunistic infections in immunocompromised patients with GATA2 haplodeficiency. Sporadic or familial GATA2 mutations are associated with infection susceptibility, autoimmunity, and myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This work aimed to investigate GATA2 status in patients with NTM and/or IFI with unknown causes for immunodeficiency .Methods A series of incident patients with NTM and/or IFI from the Division of Hematology of the Institute of Infectious Diseases-FIOCRUZ at Rio de Janeiro, Brazil, from 2015 to 2018 were subject to GATA2 genotyping. Patients with HIV positivity or other immunodeficiencies were excluded.Results. Twenty-two patients and 9 of their relatives were enrolled. Seventeen patients had IFI, 4 NTM, and one patient present both infections. In 6 patients, the occurrence of malignant disease was found along with this infection, with MDS/AML (n =3) being the most frequent. The pathogenic T354M mutation was found in 4.5% (1/22) of patients and asymptomatic offspring (2/9). We also found the GATA2 polymorphisms rs2335052 and rs369850507 in 18.2% and 4.5%, respectively, and the rs11708606 intronic polymorphisms in 27.3% of cases.Conclusions GATA2 mutations are substantial findings in patients with NTM and/or IFI without known immunosuppression. As it can indicate a primary immunodeficiency and lead to cancers -particularly MDS and AML-the presentation with NTM or IFI should trigger GATA2 mutation testing. The carriers should receive genetic counseling, subsequent infection prevention measures , and surveillance for hematologic malignancies.

show abstract

Section: Discussionmentioning

confidence: 99%

GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil

Almeida¹,

Andrade²,

Santos-Bueno³

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…The gene is located on chromosome 3q21.3. The GATA2 gene has been associated with a variety of diseases, including coronary heart disease [ 8 , 9 ], Parkinson's disease [ 10 ], and lung [ 11 ], colon [ 12 ], and prostate cancers [ 13 ]. As a transcription factor, GATA2 plays an important role in the regulation of androgen receptor (AR) signaling [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Prostate Cancer Susceptibility Loci Identified in GATA2 and ZMIZ1 in Chinese Population

Zhang

Liu

Kan

2022

International Journal of Genomics

View full text Add to dashboard Cite

Background. Common genetic risk variants for prostate cancer (PCa) have been identified at approximately 170 loci using genome-wide association studies (GWAS), most of which were identified in European populations. Recently, GWAS were applied to a large Japanese cohort and identified 12 novel susceptibility loci associated with PCa risk. In this study, we aim to investigate PCa susceptibility loci in the Chinese population. The study data will be used to promote PCa risk control in China. Methods. A total of 235 PCa patients and 252 control subjects (all unrelated) were enrolled in this case-control PCa study. Nine single nucleotide polymorphisms (SNPs) were genotyped in GATA2 (rs73862213, rs2335052, and rs10934857), ZMIZ1 (rs704017, rs77911174, and rs3740259), and SUN2 (rs78397383, rs5750680, and rs138705) genes. The associations between the candidate SNPs and PCa were analyzed using multiple-factor logistic regression and haplotype analysis. Results. The allele frequency distributions of rs73862213 and rs2335052 in the GATA2 gene and rs704017 and rs77911174 in the ZMIZ1 gene were found to be significantly different between PCa cases and controls. Haplotype analysis revealed that the G-C-A haplotype of the GATA2 gene (order of SNPs: rs73862213-rs2335052-rs10934857) and the G-G-G haplotype of the ZMIZ1 gene (order of SNPs: rs704017-rs77911174-rs3740259) were associated with increased PCa risk. None of the SUN2 haplotypes were associated with PCa. Conclusions. Our study data indicates that the minor alleles of rs73862213 and rs2335052 in the GATA2 gene and rs704017 and rs77911174 in the ZMIZ1 gene were associated with increased PCa risk. These findings greatly extended our knowledge of the etiology of PCa.

show abstract

“…Increasing evidence has shown that GATA2 expression is correlated with hematologic pathophysiologies and the proliferation and progression of solid tumors [40]. Upregulated GATA2 expression has been implicated in several tumour types, such as breast cancer [41], colorectal cancer [42] and liver cancer [43]. Moreover, recent studies con rmed that GATA2 overexpression in prostate cancer increases cellular motility and invasiveness, proliferation, tumorigenicity, and resistance to standard therapies [40].…”

Section: Discussionmentioning

confidence: 99%

Distinct Expression and Prognostic Values of GATA Transcription Factor Family in Human Ovarian Cancer.

Zhou

Huai-jie

Zuo

et al. 2020

Preprint

View full text Add to dashboard Cite

Accumulated studies have provided controversial evidences of expression patterns and prognostic value of the GATA transcription factor family in human ovarian cancer. In the present study, we accessed the distinct expression and prognostic roles of 7 individual members of GATA family in ovarian cancer (OC) patients through Oncoming analysis, CCLE analysis, the Kaplan–Meier plotter (KM plotter) database, cBioPortal and Metascape. Our results indicated that GATA1, GATA3, GATA4 and TRPS1 mRNA expression was significantly higher in OC than normal samples. High expression of GATA1, GATA2, and GATA4 were significantly correlated with better overall survival (OS), while increased GATA3 and GATA6 expression were associated with worse prognosis in OC patients. GATA1, GATA2, GATA3 and GATA6 were closely related to the diﬀerent clinicopathological features of OC. The genetic variation and interaction of the GATA family may be closely related to the pathogenesis and prognosis of OC, and the regulatory network composed of GATA family genes and their neighboring genes are mainly involved in Notch signaling pathway, Th1 and Th2 cell differentiation and Hippo signaling pathway. Our results might be beneficial for the better understanding of heterogeneity and complexity in the molecular biology of ovarian cancer, and paving a way for more accurate prediction of the prognosis of patients with OC.

show abstract

GATA2 rs2335052 Polymorphism Predicts the Survival of Patients with Colorectal Cancer

Cited by 10 publications

References 37 publications

GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil

GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil

Prostate Cancer Susceptibility Loci Identified in GATA2 and ZMIZ1 in Chinese Population

Distinct Expression and Prognostic Values of GATA Transcription Factor Family in Human Ovarian Cancer.

Contact Info

Product

Resources

About