Search

• WTAP rs1853259 AG reduces Wilms tumor risk in Chinese children. • The rs9457712 AA genotype carriers had increased Wilms tumor risk among children with clinical stage III. • The rs1853259 AG/GG genotype decreased Wilms tumor risk in children with clinical stage III. • The 2–3 risk genotypes increased Wilms tumor risk in children with clinical stage III and III + IV. Wilms tumor is the most frequently occurring pediatric renal malignancy. Wilms tumor suppressor-1-associated protein (WTAP) is a vital component of N6-methyltransferase complex involved in tumorigenesis. However, the roles of WTAP gene single nucleotide polymorphisms (SNPs) in Wilms tumor risk have not been clarified to date. We successfully genotyped three WTAP gene SNPs using TaqMan assay in 405 Wilms tumor patients and 1197 cancer-free controls of Chinese children. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to determine the effects of WTAP gene SNPs on Wilms tumor risk. Carriers of the rs1853259 G variant are less susceptible to developing Wilms tumor, with an adjusted OR of 0.78 (AG vs. AA: 95% CI = 0.61–0.995, P = 0.046). Single locus analysis of rs9457712 G > A and rs7766006 G > T, as well as the combined analysis of risk genotypes, failed to unveil an association with Wilms tumor risk, respectively. Stratified analysis of the three SNPs and their combined risk effects showed more significant relationships with Wilms tumor risk under certain subgroups. In all, we found weak evidence of the association between WTAP gene SNPs and the risk of Wilms tumor. Further replication studies with greater sample size and different ethnicities are necessary to verify our findings. [ABSTRACT FROM AUTHOR]

Background: The occurrence and development of chronic obstructive pulmonary disease (COPD) are regulated by environmental and genetic factors. In hypoxia, Erythropoietin ( EPO ) satisfies the body's need for oxygen by promoting the production of red blood cells. Hypoxia was proven to be a common physiological condition in COPD progression and associated with many complications. Some studies have found that EPO is involved in the development of COPD. But the mechanism has not been fully proven., Methods: We conducted a case-control study enrolled 1095 COPD patients and 1144 healthy controls in Guangdong Province to evaluate the association between EPO polymorphisms (rs1617640 A>C, rs507392 A>G, rs564449 G>T) and COPD susceptibility. 872 participants from southern Gansu Province were recruited to verify the effect of EPO polymorphisms on lung function., Results: EPO rs1617640 C allele reduced COPD susceptibility in southern Chinese significantly (AC vs. AA: adjusted Odds ratio (OR) = 0.805, 95% CI = 0.669-0.969; AC+CC vs. AA: adjusted OR = 0.822, 95% CI = 0.689-0.980). However, there was no association between rs507392 A>G and rs564449 G>T polymorphisms and COPD susceptibility ( p > 0.05). We further observed that the rs1617640 C allele was associated with higher FEV1 and FVC in Guangdong and Gansu populations significantly (both p < 0.05). In brief, the level of FEV1 and FVC increased with the C allele number. We modeled the relative risk for men and women, in which the population-attributable risks chances were 0.449 (0.258-0.641) and 0.262 (0.128-0.396) respectively. In this model, smoking status, coal as fuels, education level, and rs1617640 A>C were finally retained for males, while smoking status, biomass as fuels, and1617640 A>C were retained for females. In the end, using the method developed by Gail and Bruzzi, we fitted a 10-year absolute risk model for southern Chinese with different individual relative risks, which was presented as a table., Conclusions: In conclusion, this study found that EPO rs1617640 A>C polymorphism is associated with COPD susceptibility in southern Chinese, and the C allele was associated with better lung function. In addition, it could also be considered a genetic marker associated with environmental factors to predict the absolute 10-year risk of COPD in southern Chinese., Competing Interests: The authors declare no conflict of interest., (© 2023 The Author(s). Published by IMR Press.)

Hepatoblastoma is a rare childhood liver cancer without known explicit etiology. Base excision repair (BER) pathway genes have been implicated in the pathophysiology of cancer, yet the role of BER pathway gene single nucleotide polymorphisms (SNPs) on hepatoblastoma risk still awaits to be explored. This study aims to determine whether hepatoblastoma risk be modulated by polymorphisms in the BER pathway genes based on genotyped data from 313 cases and 1446 controls. We applied TaqMan assay to genotype these included samples. We comprehensively genotyped 20 SNPs across six genes of BER, and estimated odds ratio (ORs), 95% confidence intervals (CIs), and P -values of the selected SNPs' contribution to the risk of hepatoblastoma using logistic regression models. Only SNP rs293795 in the hOGG1 gene could significantly enhance hepatoblastoma risk under recessive model (adjusted OR=3.78, 95% CI=1.01-14.17, P =0.047). Stratified analysis revealed that rs159153 TC/CC genotype decreased hepatoblastoma risk in male subgroup. Moreover, rs293795 GG and 1-3 risk genotypes could increase hepatoblastoma risk in clinical stages I+II and male subgroups, respectively. False-positive report probability validated the reliability of the significant results. Our findings provide some clues of a potential risk effect of BER pathway gene hOGG1 SNPs on hepatoblastoma. Further investigation is warranted to confirm these findings and to better elucidate the biological pathways involved., Competing Interests: None., (AJCR Copyright © 2021.)