Polymorphisms of transforming growth factor beta 1 (RS#1800468 and RS#1800471) and esophageal squamous cell carcinoma among Zhuangese population, China

Tang, Ren-Guang; Huang, Yongzhi; Yao, Limin; Xiao, Jian; Lu, Chuan; Yu, Qian

doi:10.1016/j.gene.2012.10.009

Cited by 9 publications

(7 citation statements)

References 28 publications

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“…The role of TGF-b in epithelial malignant tumors is complex and is not completely known. Available data support a dual role; it acts as a tumor suppressor in early phase of tumorigenesis while causing tumor progression at later stage (7,(29)(30)(31)(32). Furthermore, lack of transforming growth factor beta receptor II (TGFR II) is associated with decreased p-Smad2 and increases tumor aggressiveness resulting from the loss of inhibitory effect of TGF-b (33)(34)(35)(36).…”

Section: Discussionmentioning

confidence: 99%

Prognostic implication of CD57, CD16, and TGF‐β expression in oral squamous cell carcinoma

Taghavi

Bagheri

Akbarzadeh

2015

J Oral Pathology Medicine

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Section: Discussionmentioning

confidence: 99%

Prognostic implication of CD57, CD16, and TGF‐β expression in oral squamous cell carcinoma

Taghavi

Bagheri

Akbarzadeh

2015

J Oral Pathology Medicine

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“…More than 100 polymorphisms have been reported in the TGFB1 gene, some of which are correlated with different races . Several common polymorphisms in the TGFB1 gene with possible functional significance in the regulation of transcriptional activity have been reported.…”

Section: Discussionmentioning

confidence: 99%

Genetic Association and Gene Expression Profiles of TGFB1 and the Contribution of TGFB1 to Otosclerosis Susceptibility

Priyadarshi

Ray

Panda³

et al. 2013

Journal of Bone and Mineral Research

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Otosclerosis (OTSC) is a common form of acquired hearing loss resulting from disturbed bone remodeling in the otic capsule of the middle ear. Transforming growth factor-beta1 (TGFB1) produced by osteoblasts is the most abundant growth factor in human bone. Previous studies have shown the contribution of single-nucleotide polymorphisms (SNPs) in TGFB1 toward the risk of developing OTSC in some ethnic populations. The present study was aimed at investigating the genetic association and expression profiles of TGFB1 in OTSC patients. Two SNPs (c. . We found that c.788C > T was monomorphic in this population. Interestingly, a four-locus haplotype (G-T-T-G) from these SNPs was found to be significantly associated with OTSC (p ¼ 0.0077). We identified a de novo heterozygous mutation c.-832G > A in the promoter region of TGFB1 in 1 patient. In a secondary analysis, we investigated the possibility of abnormal TGFB1 expression and irregular bone growth in OTSC by expression analysis of TGFB1 mRNA in disease tissue compared to control. We found relatively increased expression of TGFB1 mRNA in the stapes tissues of cases compared to controls (p ¼ 0.0057). In conclusion, this study identified a risk variant c.-509C > T and a risk haplotype G-T-T-G in the TGFB1 gene that contribute toward the susceptibility to OTSC.-

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“…Langdahl also found the relevance between C-1348-T, C-1348-T polymorphism, and the bone mineral density of male lumbar and the fracture of centrum [19]. Tang discovered that individuals carrying RS1800471 C allele had three times of morbidity of esophageal cancer than individuals carrying GG genotype, and it was related to the TNM periodization of esophageal cancer [20]. What is more, the TGF-β1 509C>T homozygous TT genotype was found to be associated with an increased risk of having an aggressive form of prostate cancer, but the 29 T>C C variant genotypes were not [21].…”

Section: Discussionmentioning

confidence: 94%

Correlation between TGF-β1 gene 29 T > C single nucleotide polymorphism and clinicopathological characteristics of osteosarcoma

Zhao

2015

Tumor Biol.

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Transforming growth factor (TGF)-β1 is the most abundant growth factor in human bone. Several polymorphisms have been described in the TGF-β1 gene. To explore the correlation between TGF-β1 gene single nucleotide polymorphism and the clinicopathological characteristics of osteosarcoma. TaqMAN PCR technique was used to detect the TGF-β1 gene polymorphism of 124 patients with osteosarcoma from last follow-up and 136 healthy controls. The difference of gender, age, and allele frequency between patient group and control group with χ (2) text were tested. The relationship between single nucleotide polymorphism and the risk of osteosarcoma with logistic regression and different survival rates of different genotypic patients with osteosarcoma through Kaplan-Meier were analyzed. There is no remarkable difference of the three genotypes in TGF-β1 gene 509C > T locus between the patient group and control group (P = 0.26). However, there are significant distributive differences in 29 T > C genotype (P = 0.04), which shows that patients carrying TT genotype have more risk to get osteosarcoma than patients carrying CC genotype (odds ratio (OR) = 2.10, 95 % confidence interval (CI) = 1.08-4.05). The percentage of T allele frequency of patient group, as 60.1 %, is larger than the control group, as 48.9 %. By comparing with patients carrying CC genotype, patients carrying TT genotype have two times risk of metastasis (OR = 2.30, 95 % CI = 1.05-5.06), and most of them are in the period of Enneking IIB (OR = 2.54, 95 % CI = 1.18-5.51). The survival analysis indicates that there is no any significant decrease when there is recurrence in patients carrying TT genotype. The morbidity and metastasis of osteosarcoma are relevant to TGF-β1 gene 29 T > C single nucleotide polymorphism.

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Polymorphisms of transforming growth factor beta 1 (RS#1800468 and RS#1800471) and esophageal squamous cell carcinoma among Zhuangese population, China

Cited by 9 publications

References 28 publications

Prognostic implication of CD57, CD16, and TGF‐β expression in oral squamous cell carcinoma

Prognostic implication of CD57, CD16, and TGF‐β expression in oral squamous cell carcinoma

Genetic Association and Gene Expression Profiles of TGFB1 and the Contribution of TGFB1 to Otosclerosis Susceptibility

Correlation between TGF-β1 gene 29 T > C single nucleotide polymorphism and clinicopathological characteristics of osteosarcoma

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