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Impact of COL6A4P2 gene polymorphisms on the risk of lung cancer: A case-control study.

ABSTRACT: Lung cancer (LC) is a malignant tumor that poses the greatest threat to human health and life. Most studies suggested that the occurrence of LC is associated with environmental and genetic factors. We aimed to explore the association between COL6A4P2 single nucleotide polymorphisms (SNPs) and CHD risk in the Chinese Southern Han population. Based on the 'case-control' experimental design (510 cases and 495 controls), we conducted an association study between five candidate COL6A4P2 SNPs and the corresponding LC risk. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression to analyze the LC susceptibility under different genetic models. The results showed that COL6A4P2 rs34445363 was significantly associated with LC risk under alleles model (OR = 1.26, 95%CI: 1.01-1.58, p = 0.038). In addition, rs34445363 was also significantly associated with LC risk under the log-additive model (OR = 1.26, 95%CI: 1.01-1.58, p = 0.041). The results of subgroup analysis showed that rs34445363 (OR = 1.42, 95%CI: 1.03-1.95, p = 0.033) and rs61733464 (OR = 0.72, 95%CI: 0.52-0.99, p = 0.048) were both significantly associated with LC risk in the log-additive model among participants who were ≤ 61 years old. We also found that the variation of rs34445363 (GA vs. GG, OR = 1.73, 95%CI: 1.04-2.86, p = 0.034) and rs77941834 (TA vs. TT, OR = 1.88, 95%CI: 1.06-3.34, p = 0.032) were associated with LC risk in the codominant model among female participants. Our study is the first to find that COL6A4P2 gene polymorphism is associated with LC risk in the Chinese Han population. Our study provides a basic reference for individualized LC prevention.

SUBMITTER: Dang X

PROVIDER: S-EPMC8139505 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundCervical cancer is the fourth most common cancer among women worldwide. Genome-wide association studies have revealed multiple susceptible genes and their polymorphisms for cervical cancer risk. Therefore, we aimed to investigate the correlation between single nucleotide polymorphisms (SNPs) of the CD40 gene and susceptibility to cervical squamous cell carcinoma (CSCC) in a population from the northeastern Han Chinese population.MethodsThe three SNPs (rs1800686, rs3765459, and rs4810485) of the CD40 gene were analyzed by multiplex polymerase chain reaction (PCR) combined with next-generation sequencing methods in 421 patients with CSCC, 594 patients with high-grade squamous intraepithelial lesions (HSIL), and 504 healthy females. Multivariate logistic regression analysis was used to analyze the potential relationship between CD40 gene polymorphisms and CSCC, or HSIL.ResultsOur research results showed the AA genotype of rs1800686 had a protective effect on CSCC in comparison to the GG genotype and AG+GG genotypes (AA vs. GG: p = 0.0389 and AA vs. AG+GG: p = 0.0280, respectively). After FDR correction, the results were still statistically significant (p = 0.0389 and p = 0.0389, respectively). Similarly, rs3765459 showed a reduced risk association for CSCC in the codominant and recessive models (AA vs. GG: p = 0.0286 and AA vs. AG+GG: p = 0.0222, respectively). Significant differences remained after FDR correction (p = 0.0286 and p = 0.0286, respectively). However, these differences were no longer significant after the Bonferroni correction. In addition, the genotypes for the rs4810485 polymorphisms were associated with parity of the patients with CSCC. The genotypes for the rs3765459 polymorphisms were significantly correlated with the D-dimer of the patients with CSCC. The 3 SNPs genotypes of the CD40 gene were closely related to the squamous cell carcinoma antigen (SCC) of the patients with HSIL.ConclusionsThe CD40 gene may play a role in the occurrence and development of CSCC.

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Impact of COL6A4P2 gene polymorphisms on the risk of lung cancer: A case-control study.

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