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Aim: This study was designed to evaluate the contribution of GBAP1 variants to gastric cancer (GC) risk in a Chinese Han population. Methods: The genotypes of GBAP1 polymorphisms were detected using the Agena MassARRAY platform. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% CIs. Results:GBAP1 rs140081212 (OR = 0.51, p = 4.50 × 10-07), rs1057941 (OR = 0.48, p = 1.19 × 10-08) and rs2990220 (OR = 0.46, p = 7.34 × 10-09) contribute to reduced GC risk, especially gastric adenocarcinoma. Interestingly, the contribution of GBAP1 variants to GC susceptibility was associated with age, sex, BMI, smoking and drinking. Conclusion: This research suggested that GBAP1 polymorphisms might provide a protective effect against GC occurrence in a Chinese Han population. [ABSTRACT FROM AUTHOR]

Upper tract urothelial carcinoma (UTUC) accounts for 10% of urothelial carcinomas (UCs) and has a substantial hereditary component. However, the majority of our knowledge of germline spectrum comes from bladder cancer (BCa) data in White populations. Here, we sequence 309 Chinese UTUC cases and identify 71 germline pathogenic/likely pathogenic (P/LP) mutations in 62 patients (20.1%). Compared with White cases, we observe disparities and similarities in inherited mutational profiles. Association analysis reveals that germline P/LP mutations in MSH2, BRCA2, BRCA1, and BRIP1 significantly increase UTUC risk in Chinese populations. Furthermore, germline P/LP mutation in homologous recombination genes indicates poor prognosis for non-metastatic UTUC. Finally, we perform paired sequencing and observe significant correlations between germline mutation patterns and tumor subtypes. This study highlights the importance of genetic testing in patients with UTUC and calls for germline data from various ethnicities to better understand this disease., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)

Aim: This study was designed to evaluate the contribution of GBAP1 variants to gastric cancer (GC) risk in a Chinese Han population. Methods: The genotypes of GBAP1 polymorphisms were detected using the Agena MassARRAY platform. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% CIs. Results: GBAP1 rs140081212 (OR = 0.51, p = 4.50 × 10 -07 ), rs1057941 (OR = 0.48, p = 1.19 × 10 -08 ) and rs2990220 (OR = 0.46, p = 7.34 × 10 -09 ) contribute to reduced GC risk, especially gastric adenocarcinoma. Interestingly, the contribution of GBAP1 variants to GC susceptibility was associated with age, sex, BMI, smoking and drinking. Conclusion: This research suggested that GBAP1 polymorphisms might provide a protective effect against GC occurrence in a Chinese Han population.

Previous studies have proposed leptin/leptin receptor (LEPR) pathway has a potential role in the oxidative stress induction as well as in immune and inflammatory responses; however, the effects of leptin/LEPR signaling on anti-tuberculosis drug-induced liver injury (ATLI) remain unexplored. Here, we aimed to investigate the potential relationships between LEPR polymorphisms and ATLI risk and clinical characteristics. In total, this prospective study included 745 tuberculosis subjects with isoniazid and rifampin co-administration from West China. Six candidate single nucleotide polymorphisms (SNPs) in LEPR gene were genotyped by using a custom-by-design 48-Plex SNPscan kit. All subjects were monitored for six months to assess the occurrence of ATLI. Genetic association analysis at both the single-SNP and haplotype levels was performed. Significant SNPs were further explored in relation to clinical features and inflammatory response of ATLI cases. ATLI was identified in 118 of 745 subjects with a prevalence rate of 15.84%. Significant differences were observed in the allele and genotype distribution of LEPR rs2025804 in ATLI cases compared to non-ATLI controls (allele: OR = 1.64, 95% CI = 1.15–2.32, adjusted- p =.036; dominant model: OR = 1.73, 95% CI = 1.14–2.61, adjusted- p = 0.054; additive model: OR = 1.64, 95% CI = 1.15–2.34, adjusted- p = 0.036). Haplotype AA comprising of rs2025804 and rs2104564 was associated with a 1.58-fold increased predisposition to ATLI with p = 0.013. Furthermore, among ATLI patients, individuals carrying minor allele-containing genotypes in rs10889551, rs2025804 and rs2104564 loci had higher levels of C-reactive protein as compared to those homozygous major allele carriers, at p of 0.002, 0.057 and 0.012, respectively. Ours is the first study which shows that LEPR polymorphisms may increase the risk for ATLI and may influence the inflammatory response in ATLI patients among Western Chinese Han tuberculosis patients. • The first analysis between LEPR polymorphisms and ATLI predisposition and its clinical traits in West China. • ATLI was identified in 118 of 745 subjects with a prevalence rate of 15.84% from this prospective cohort study. • We revealed that rs2025804 A allele may increase the risk of ATLI in Western Chinese Han population. • This study showed for the first time among ATLI patients, rs10889551, rs2025804 and rs2104564 correlated with CRP levels. [ABSTRACT FROM AUTHOR]

Objectives: We quantified the expression of six well-characterized microRNAs (miRNAs) in peripheral blood mononuclear cells to see whether they can predispose to syndesmophytes in ankylosing spondylitis (AS) patients., Methods: This is a cross-sectional study involving 46 AS patients (23/23 with/without syndesmophytes) and 22 healthy controls. miRNAs expression was quantified by real-time PCR., Results: Six examined miRNAs were comparably expressed between AS patients without syndesmophytes and healthy controls (p > .05). Relative to AS patients without syndesmophytes, patients with syndesmophytes had significantly higher levels of miR-29a, miR-335-5p, miR-27a and let-7i (p = .001, .002, .013 and .029, respectively). Nine significant contributors associated with syndesmophytes in AS, including smoking, AS duration, human leukocyte antigen B27, erythrocyte sedimentation rate, C-reactive protein, miR-335-5p, miR-27a, miR-218 and sacroiliitis, were identified. The addition of miR-335-5p, miR-27a and miR-218 can significantly improve the accuracy of baseline risk factors. Based on the nine significant contributors, a nomogram was constructed, with good prediction accuracy (C-index: 0.86, p < .001)., Conclusion: We provide evidence for the predisposition of miR-335-5p, miR-27a and miR-218 to syndesmophytes in AS patients, indicating a contributory role of miRNAs in the pathogenesis of syndesmophytes. Further validation is warranted.

Prostate cancer predisposition has been extensively investigated in European populations, but there have been few studies of other ethnic groups. To investigate prostate cancer susceptibility in the under-investigated Chinese population, we performed single-nucleotide polymorphism (SNP) array analysis on a cohort of Chinese cases and controls and then meta-analysis with data from the existing Chinese prostate cancer genome-wide association study (GWAS). Genotyping 211,155 SNPs in 495 cases and 640 controls of Chinese ancestry identified several new suggestive Chinese prostate cancer predisposition loci. However, none of them reached genome-wide significance level either by meta-analysis or replication study. The meta-analysis with the Chinese GWAS data revealed that four 8q24 loci are the main contributors to Chinese prostate cancer risk and the risk alleles from three of them exist at much higher frequencies in Chinese than European populations. We also found that several predisposition loci reported in Western populations have different effect on Chinese men. Therefore, this first extensive single-nucleotide polymorphism study of Chinese prostate cancer in comparison with European population indicates that four loci on 8q24 contribute to a great risk of prostate cancer in a considerable large proportion of Chinese men. Based on those four loci, the top 10% of the population have six- or two-fold prostate cancer risk compared with men of the bottom 10% or median risk respectively, which may facilitate the design of prostate cancer genetic risk screening and prevention in Chinese men. These findings also provide additional insights into the etiology and pathogenesis of prostate cancer., Competing Interests: The authors declare no conflicts of interest.