Genetic variants within 17q12 are associated with the risk of cervical cancer in the Han Chinese population

Hu, Lingmin; Jia, Meiqun; Zhou, Jing; Ma, Hongxia; Jin, Guangfu; Hang, Dong; Hu, Zhibin

doi:10.1016/j.gene.2018.08.030

Cited by 4 publications

(3 citation statements)

References 18 publications

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“…19,20 It can promote autophagy in human bronchial epithelium to influence asthma. [21][22][23] Consistent with our findings, a case-control study conducted by Hu et al 24 found the SNPs located at the intron of ORMDL3 might be the causal variants contributing to cervical cancer risk in the Han Chinese population. The specific roles of immune cells may differ depending on the stage of the disease, such as during early tumor formation, metastatic transmission and therapeutic intervention.…”

Section: Discussionsupporting

confidence: 92%

Revealing genes associated with cervical cancer in distinct immune cells: A comprehensive Mendelian randomization analysis

Li,

Yi,

Sun

et al. 2024

Intl Journal of Cancer

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Human papillomavirus can be contracted by sexually active women. However, only a small proportion of these infections persist and have the potential to progress into cervical cancers, indicating a significant involvement of the immune system in cervical cancer development. Despite this, our understanding of the precise contributions of genes from different immune cell types in cervical cancers remains limited. Therefore, the primary objective of our study was to investigate the potential causal relationships between specific immune cell genes and the development of cervical cancers. By accessing expression quantitative trait loci datasets of 14 distinct immune cell types and genome wide association study of cervical cancers, we employed the summary data‐based Mendelian randomization (SMR) along with multi‐single nucleotide polymorphism (SNP)‐based SMR to identify significant genes associated with cervical cancers. Colocalization analysis was further conducted to explore the shared genetic causality. A total of 10 genes across 11 immune cell types (26 significant gene‐trait associations) were found to be associated with cervical cancers after false discovery rate correction. Notably, the ORMDL3, BRK1 and HMGN1 gene expression levels showed significant association with cervical cancer in specific immune cell types, respectively. These associations were supported by strong evidence of colocalization analyses. Our study has identified several genes in different immune cells that were associated with cervical cancer. However, further research is necessary to confirm these findings and provide more comprehensive insights into the association between these gene expressions and cervical cancer risk.

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Section: Discussionsupporting

confidence: 92%

Revealing genes associated with cervical cancer in distinct immune cells: A comprehensive Mendelian randomization analysis

Li,

Yi,

Sun

et al. 2024

Intl Journal of Cancer

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“…Cervical cancer is a gynaecological malignancy with a high incidence worldwide that seriously in uences women's lives. Many studies to date have shown that host genetic variation has a certain association with susceptibility to cervical cancer [23][24][25][26][27][28]. In the current study, we found that rs1800629 and rs361525 in the TNF-α gene promoter are related to susceptibility to cervical cancer in a Chinese Han population.…”

Section: Discussionsupporting

confidence: 57%

The association of TNF-α promoter polymorphisms with genetic susceptibility to cervical cancer in a Chinese Han population

Yang

Wang

Zhang

et al. 2021

Preprint

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Background The Tumour necrosis factor-α (TNF-α) gene plays an important role in the host immune response. Recent studies have found that TNF-α also plays an important role in cancer. Polymorphism of the TNF-α promoter region is considered to influence its transcription and be a risk factor for tumorigenesis. In the current study, we evaluated the role of TNF-α promoter region polymorphisms in susceptibility to cervical intraepithelial neoplasia (CIN) and cervical cancer (CC). Methods A total of 2,732 subjects, including 1,173 healthy controls, 579 patients with CIN and 980 patients with cervical cancer in a Chinese Han population, were selected for the current study. Five SNPs in the TNF-α promoter, rs1799964 (C > T), rs800630 (A > C), rs1799724 (C > T), rs1800629 (A > G) and rs361525 (A > G), were selected and genotyped using TaqMan Assays. The association of these SNPs with cervical cancer was evaluated among healthy controls and CIN and cervical cancer patients. Results The frequency distribution of rs1800629 and rs361525 alleles was significantly different between the cervical cancer group and the control group (P = 0.009 and P = 0.002). The A alleles of rs1800629 and rs361525 were found to be a protective factor (OR = 0.722; 95%CI = 0.564–0.923) and a risk factor (OR = 1.693; 95%CI = 1.205–2.378) for cervical cancer, respectively. In comparison of different pathological types of cervical cancer group and the control group, the distribution of allele frequencies of rs1800629 and rs361525 was significantly different between the squamous cell carcinoma and control groups (P = 0.002 and P < 0.001). The A alleles of rs1800629 and rs361525 were protective (OR = 0.659; 95%CI = 0.502–0.864) and risk (OR = 1.868; 95%CI = 1.317–2.648) factors for cervical squamous cell carcinoma, respectively. Conclusion rs1800629 and rs361525 in the TNF-α promoter are associated with susceptibility to cervical cancer and squamous cell carcinoma in the Chinese Han population.

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“…Cervical cancer is characterized by a high incidence rate and high mortality rate, and it is a major public problem affecting the health of middle-aged women, especially in countries with low resources ( Hu et al, 2018 ; Arbyn et al, 2020 ; Zhang et al, 2020 ). Persistent infection of high-risk HPV is the most important risk factor associated with cervical cancer ( Faridi et al, 2011 ; Paaso et al, 2019 ).…”

Section: Discussionmentioning

confidence: 99%

Association Between GSDMB Gene Polymorphism and Cervical Cancer in the Northeast Chinese Han Population

Zhang

et al. 2022

Front. Genet.

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Objective: The purpose of this study was to investigate the relationship between GSDMB gene polymorphism and genetic susceptibility to cervical cancer in the Han population in Northeast China.Methods: In this case–control study, the genotypes and alleles of rs8067378 in the GSDMB gene were analyzed by multiplex polymerase chain reaction (PCR) and next-generation sequencing methods in 482 cervical cancer (CC) patients, 775 cervical squamous intraepithelial lesion (SIL) patients, and 495 healthy women. The potential relationships between the SNP of the GSDMB gene with SIL and CC were analyzed by multivariate logistic regression analysis combined with 10,000 permutation tests.Results: In the comparison between the SIL group and the control group, the genotype and allele distribution frequencies of rs8067378 SNP of the GSDMB gene were statistically significant (p = 0.0493 and p = 0.0202, respectively). The allele distribution frequencies of rs8067378 were also statistically significant in the comparison between high-grade cervical squamous intraepithelial lesion (HSIL) and low-grade cervical squamous intraepithelial lesion (LSIL) groups with control group ( p = 0.0483 and p = 0.0330, respectively). Logistic regression analysis showed that after adjusting for age, the rs8067378 SNP of the GSDMB gene was significantly associated with the reduced risk of SIL under the dominant model (p = 0.0213, OR = 0.764, CI = 0.607–0.961) and the additive model (p = 0.0199, OR = 0.814, and CI = 0.684–0.968), and its mutant gene G may play a role in the progression of healthy people to LSIL and even HSIL as a protective factor. However, there was no significant association between cervical cancer and its subtypes with the control group (p > 0.05). After 10,000 permutations, there was still no correlation that has provided evidence for the accuracy of our study.Conclusion: The results of this study showed that rs8067378 single nucleotide polymorphism of the GSDMB gene may reduce the risk of SIL and protect the susceptibility to cervical precancerous lesions in the Northeast Chinese Han population, but it has no significant correlation with the progression of cervical cancer.

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Genetic variants within 17q12 are associated with the risk of cervical cancer in the Han Chinese population

Cited by 4 publications

References 18 publications

Revealing genes associated with cervical cancer in distinct immune cells: A comprehensive Mendelian randomization analysis

Revealing genes associated with cervical cancer in distinct immune cells: A comprehensive Mendelian randomization analysis

The association of TNF-α promoter polymorphisms with genetic susceptibility to cervical cancer in a Chinese Han population

Association Between GSDMB Gene Polymorphism and Cervical Cancer in the Northeast Chinese Han Population

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