Variants in motilin, somatostatin and their receptor genes and risk of biliary tract cancers and stones in Shanghai, China

Xu, Hongmin; Hsing, Ann W.; Koshiol, Jill; Chu, Lisa W.; Cheng, Jiulong; Gao, Jing; Tan, Yuting; Wang, Bingsheng; Shen, Ming-Chang; Gao, Yu‐Tang

doi:10.1016/j.mgene.2014.04.012

Cited by 8 publications

(6 citation statements)

References 22 publications

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“…DNA repair enzyme maintenance of genomic integrity is an essential component of normal cell homeostasis, and is necessary to maintain cell growth, differentiation and apoptosis 34 35 . Evidence increasingly indicates that polymorphisms in human DNA repair genes alter DNA repair capacity and are associated with increased solid tumor risk and susceptibility 23 24 .…”

Section: Discussionmentioning

confidence: 99%

Variants and haplotypes in Flap endonuclease 1 and risk of gallbladder cancer and gallstones: a population-based study in China

Jiao¹,

Ying²,

Zhou³

et al. 2015

Sci Rep

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The role of FEN1 genetic variants on gallstone and gallbladder cancer susceptibility is unknown. FEN1 SNPs were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method in blood samples from 341 gallbladder cancer patients and 339 healthy controls. The distribution of FEN1-69G > A genotypes among controls (AA, 20.6%; GA, 47.2% and GG 32.2%) was significantly different from that among gallbladder cancer cases (AA, 11.1%; GA, 48.1% and GG, 40.8%), significantly increased association with gallbladder cancer was observed for subjects with both the FEN1-69G > A GA (OR = 1.73, 95% CI = 1.01–2.63) and the FEN1-69G > A GG (OR = 2.29, 95% CI = 1.31–3.9). The distribution of FEN1 -4150T genotypes among controls (TT, 21.8%;GT, 49.3% and GG 28.9%) was significantly different from that among gallbladder cancer cases (TT, 12.9%; GT, 48.4% and GG 38.7%), significantly increased association with gallbladder cancer was observed for subjects with both the FEN1-4150T GT(OR = 1.93, 95% CI = 1.04–2.91) and the FEN1-4150T GG(OR = 2.56, 95% CI = 1.37–5.39). A significant trend towards increased association with gallbladder cancer was observed with potentially higher-risk FEN1-69G > A genotypes (P < 0.001, χ2 trend test) and FEN14150G > T (P < 0.001, χ2 trend test) in gallstone presence but not in gallstone absence (P = 0.81, P = 0.89, respectively). In conclusion, this study revealed firstly that FEN1 polymorphisms and haplotypes are associated with gallbladder cancer risk.

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Section: Discussionmentioning

confidence: 99%

Variants and haplotypes in Flap endonuclease 1 and risk of gallbladder cancer and gallstones: a population-based study in China

Jiao¹,

Ying²,

Zhou³

et al. 2015

Sci Rep

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“…MLNR is a member of the G-protein coupled receptor 1 family, and known for regulating gastrointestinal activity 70 . MLNR variants and dysregulation have been implicated in lung occult small cell carcinoma, bile duct cancer 71 , and head and neck cancer 72 . Our overproduction results of the MLNR p.Q334V fs*3del suggest a dominant-negative role in terms of DNA damage promotion.…”

Section: Discussionmentioning

confidence: 99%

Rare deleterious germline variants and risk of lung cancer

et al. 2021

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Recent studies suggest that rare variants exhibit stronger effect sizes and might play a crucial role in the etiology of lung cancers (LC). Whole exome plus targeted sequencing of germline DNA was performed on 1045 LC cases and 885 controls in the discovery set. To unveil the inherited causal variants, we focused on rare and predicted deleterious variants and small indels enriched in cases or controls. Promising candidates were further validated in a series of 26,803 LCs and 555,107 controls. During discovery, we identified 25 rare deleterious variants associated with LC susceptibility, including 13 reported in ClinVar. Of the five validated candidates, we discovered two pathogenic variants in known LC susceptibility loci, ATM p.V2716A (Odds Ratio [OR] 19.55, 95%CI 5.04–75.6) and MPZL2 p.I24M frameshift deletion (OR 3.88, 95%CI 1.71–8.8); and three in novel LC susceptibility genes, POMC c.*28delT at 3′ UTR (OR 4.33, 95%CI 2.03–9.24), STAU2 p.N364M frameshift deletion (OR 4.48, 95%CI 1.73–11.55), and MLNR p.Q334V frameshift deletion (OR 2.69, 95%CI 1.33–5.43). The potential cancer-promoting role of selected candidate genes and variants was further supported by endogenous DNA damage assays. Our analyses led to the identification of new rare deleterious variants with LC susceptibility. However, in-depth mechanistic studies are still needed to evaluate the pathogenic effects of these specific alleles.

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“…The MLNR shares significant amino acid sequence identity with GHSR 33 . Recently, it was reported that variants in the MLNR gene (rs9568169) are specific genetic risk factors for bile duct cancer 34 . Neuromedin U and its structurally related peptide, neuromedin S, are reported to regulate multiple physiological processes, and their functions are mediated by two receptors, NMUR1 and NMUR2.…”

Section: Discussionmentioning

confidence: 99%

Neuropeptide receptor genes GHSR and NMUR1 are candidate epigenetic biomarkers and predictors for surgically treated patients with oropharyngeal cancer

Misawa

Mima

Yamada

et al. 2020

Sci Rep

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pathological staging and histological grading systems are useful, but imperfect, predictors of recurrence in head and neck squamous cell carcinoma (HnScc). Aberrant promoter methylation is the main type of epigenetic modification that plays a role in the inactivation of tumor suppressor genes. To identify new potential prognostic markers, we investigated the promoter methylation status of five neuropeptide receptor genes. the methylation status of the target genes was compared with clinical characteristics in 278 cases; 72 hypopharyngeal cancers, 54 laryngeal cancers, 75 oropharyngeal cancers, and 77 oral cavity cancers were studied. We found that the NTSR1, NTSR2, GHSR, MLNR, and NMUR1 promoters were methylated in 47.8%, 46.8%, 54.3%, 39.2%, and 43.5% of the samples, respectively. GHSR and NMUR1 promoter methylation independently predicted recurrence in HnScc. in patients with oropharyngeal cancer (n = 75), GHSR and NMUR1 promoter methylation significantly correlates with survival in surgically treated patients. We classified our patients as having a low, intermediate, or high-risk of death based on three factors: HpV status, and GHSR and NMUR1 promoter methylation. The disease-free survival (DFS) rates were 87.1%, 42.7%, and 17.0%, respectively. Combined data analysis of the methylation status of ten-eleven translocation (TET) family genes indicated a trend toward greater methylation indices as the number of TET methylation events increased. in the current study, we presented the relationship between the methylation status of the GHSR and NMUR1 genes and recurrence in HNSCC, specifically in risk classification of oropharyngeal carcinomas cases with HpV status.

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Variants in motilin, somatostatin and their receptor genes and risk of biliary tract cancers and stones in Shanghai, China

Cited by 8 publications

References 22 publications

Variants and haplotypes in Flap endonuclease 1 and risk of gallbladder cancer and gallstones: a population-based study in China

Variants and haplotypes in Flap endonuclease 1 and risk of gallbladder cancer and gallstones: a population-based study in China

Rare deleterious germline variants and risk of lung cancer

Neuropeptide receptor genes GHSR and NMUR1 are candidate epigenetic biomarkers and predictors for surgically treated patients with oropharyngeal cancer

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