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

Zhang, Huijing; Liu, Zhongyuan; Kan, Liang

doi:10.1155/2022/8553530

Cited by 7 publications

(4 citation statements)

References 28 publications

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“…Investigating the mechanisms underlying BCa is crucial for improving the screening and diagnosis of BCa [ 7 ]. Currently, genome-wide association studies (GWASs) have been done in many populations to identify candidate genes associated to the risk of BCa [ 8 ]. A study in Europe demonstrated SNP associations with non–muscle-invasive bladder cancer tumor (size, stage, and grade) and patient characteristics (age and EORTC risk category) at the time of diagnosis [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

“…A study in Europe demonstrated SNP associations with non–muscle-invasive bladder cancer tumor (size, stage, and grade) and patient characteristics (age and EORTC risk category) at the time of diagnosis [ 9 ]. Zhang et al demonstrate that the minor alleles of rs73862213 and rs2335052 in the GATA2 gene and ZMIZ1 gene were remarkably related with the risk of prostate cancer [ 8 ]. Matsuda et al reported that SNPs in the SLC14A1 , APOBEC3A-CBX6 , PSCA , and MYC genes were associated with the risk of bladder cancer in the Japanese population, and a similar association was demonstrated in Chinese, European, and Asian populations [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

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Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population

Guo

2022

BioMed Research International

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Bladder cancer (BCa) is an increasingly severe clinical and public health issue. Therefore, we aim to investigate BCa susceptibility loci in the Chinese population. In this study, 487 BCa patients and 563 controls were recruited from the First Affiliated Hospital of China Medical University from July 2015 to September 2020. A total of ten single-nucleotide polymorphisms (SNPs) in solute carrier family 15 member 1 (SLC15A1), CWC27 spliceosome associated cyclophilin (CWC27), or UDP glucuronosyltransferase family 1 member A3 (UGT1A3) genes were genotyped. The associations between the candidate SNPs and BCa were analyzed using genotype and haplotype analysis. The results demonstrated that Rs4646227 of SLC15A1 has a significant association with BCa. The patients with CG (OR =2.513, p < 0.05 ) and GG (OR =2.859, p < 0.05 ) genotypes had an increasing risk of BCa compared with the CC genotype. For the CWC27 gene, genotypic frequency analysis revealed that the GT or TT genotype of rs2042329 and the CT or TT genotype of rs1870437 were more frequent in BCa patients than those in the control group, indicating that these genotypes were associated with a higher risk of BCa (all p < 0.05 ). Haplotypes of SLC15A1, UGT1A3, and CWC27 genes found that the C-C-C haplotype of SLC15A1 was associated with a lower risk of BCa while the C-G-C haplotype was associated with a higher risk. For the UGT1A3 gene, a moderate protective effect was observed with the most frequent T-T-C haplotype, and for the CWC27 gene, most of the haplotypes showed no association with BCa, except the G-G-C-T haplotype (order of SNPs: rs2042329-rs7735338-rs1870437-rs2278351, OR =0.81, p =0.038). In sum, this study indicated that rs2042329 and rs1870437 in the CWC27 gene and rs4646227 in the SLC15A1 gene are independent indicators for BCa risk in Chinese people. Further large-scale studies are required to validate these findings. Also, this study provided the theoretical basis for developing new therapeutic drug targeting of BCa.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population

Guo

2022

BioMed Research International

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“…The haplotype analysis illustrated that the individuals with the A-C-C-A haplotype, constructed with minor allele of rs9900085, and C-C-A-C haplotype, constructed with minor allele of rs8072311, had an increased prostate cancer risk. 22 The results of genotype distributions and haplotype analysis suggested that GAS7 gene is the candidate POAG risk gene. No significant distinction was observed between the cases and controls for rs11656696 and rs74629981, aligning with the Saudi population.…”

Section: Discussionmentioning

confidence: 99%

Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China

Jie,

2023

Exp Biol Med (Maywood)

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The potential for adverse outcomes and classifications of glaucoma differ among race, country, gender, and family medical history. Nearly, 50 represent candidate genes are considered as potential contributors to the happening for the primary open-angle glaucoma (POAG) since the advent of GWASs. Our investigation is the first to report the Toll-like receptor 4 ( TLR4) and growth arrest-specific 7 ( GAS7) among people in Shenyang, China; to investigate whether single-nucleotide polymorphisms (SNPs) in ( TLR4) or GAS7 gene are risk factors for POAG among people in Shenyang, China; and also to explore their potential pathogenic mechanisms. POAG patients from July 2015 to June 2019 at Shenyang Fourth People’s Hospital were selected. A total of 218 POAG patients and 252 controls were enrolled. Eight potentially functional SNPs of TLR4 (rs7868859, rs7873784, rs77358523, and rs752998) and GAS7 (rs8012311, rs11656696, rs74629981, and rs9900085) were genotyped. Multifactor analysis was conducted to evaluate the correlation between TLR4, GAS7, and POAG. The allele frequency of rs7873784 of TLR4 demonstrated that the GC ( P = 0.030), CC ( P = 0.040), and GC + CC genotypes ( P = 0.009) were significantly higher compared with CC genotype for POAG patients than that for controls. The rs8072311 and rs9900085 of GAS7 gene also were significantly associated with POAG. Haplotype analysis found that the C-A-T-A haplotype (order: rs7873784-rs77358523-rs752998-rs7868859) of TLR4 gene and the two haplotypes A-C-C-A and C-C-A-C of GAS7 (order: rs9900085-rs74629981-rs8072311-rs11656696) were associated with an elevated susceptibility to POAG ( P < 0.05). In this study, rs7868859 of TLR4 and rs8012311 and rs9900085 polymorphisms of GAS7 were first identified to be related to POAG among people in Shenyang, China.

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“…Zmiz1 plays a pivotal role in various biological processes, spanning embryonic development, angiogenesis, immune response, and has been associated with conditions such as cancer, leukemia, and diabetes (11,(39)(40)(41)(42)(43)(44)(45)(46). In recent years, the link between Zmiz1 mutations and NDDs, particularly ASD, has emerged (9, 10, 47-49).…”

Section: Zmiz1 Is An Asd Risk Genementioning

confidence: 99%

Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability

K. C.,

Tiemroth,

Thurmon

et al. 2024

Front. Psychiatry

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Neurodevelopmental disorders (NDDs) are a class of pathologies arising from perturbations in brain circuit formation and maturation with complex etiological triggers often classified as environmental and genetic. Neuropsychiatric conditions such as autism spectrum disorders (ASD), intellectual disability (ID), and attention deficit hyperactivity disorders (ADHD) are common NDDs characterized by their hereditary underpinnings and inherent heterogeneity. Genetic risk factors for NDDs are increasingly being identified in non-coding regions and proteins bound to them, including transcriptional regulators and chromatin remodelers. Importantly, de novo mutations are emerging as important contributors to NDDs and neuropsychiatric disorders. Recently, de novo mutations in transcriptional co-factor Zmiz1 or its regulatory regions have been identified in unrelated patients with syndromic ID and ASD. However, the role of Zmiz1 in brain development is unknown. Here, using publicly available databases and a Zmiz1 mutant mouse model, we reveal that Zmiz1 is highly expressed during embryonic brain development in mice and humans, and though broadly expressed across the brain, Zmiz1 is enriched in areas prominently impacted in ID and ASD such as cortex, hippocampus, and cerebellum. We investigated the relationship between Zmiz1 structure and pathogenicity of protein variants, the epigenetic marks associated with Zmiz1 regulation, and protein interactions and signaling pathways regulated by Zmiz1. Our analysis reveals that Zmiz1 regulates multiple developmental processes, including neurogenesis, neuron connectivity, and synaptic signaling. This work paves the way for future studies on the functions of Zmiz1 and highlights the importance of combining analysis of mouse models and human data.

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

Cited by 7 publications

References 28 publications

Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population

Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population

Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China

Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability

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