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Protective association of TNFSF15 polymorphisms with Crohn's disease and ulcerative colitis: A meta-analysis.
He, L, Chen, J, Sun, J, Peng, J, He, Q
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association. 2018;(4):201-210
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Abstract
BACKGROUND/AIMS: Three extensively investigated polymorphisms (rs3810936, rs7848647, and rs6478108) in tumor necrosis factor super family member 15 (TNFSF15) gene have been implicated in risk for inflammatory bowel disease (IBD). We performed a quantitative synthesis of the evidence to clarify these associations of TNFSF15 polymorphisms with IBD. MATERIALS AND METHODS Data were extracted from PubMed and EMBASE, up to March 15, 2018. Meta-analysis was performed by critically reviewing five studies for rs3810936 polymorphism (2251 cases and 2442 controls), four studies for rs7848647 polymorphism (1503 cases and 1816 controls), and four studies for rs6478108 polymorphism (1502 cases and 1817 controls). RESULTS Our analysis suggested that rs3810936 polymorphism was significantly associated with decreased risk of Crohn's disease (CD) and ulcerative colitis (UC). For rs7848647 polymorphism, significantly protective association between this polymorphism and CD risk was also observed, but not in UC. For rs6478108 polymorphism, we also detected a significantly protective association with CD risk in all genetic model but not in UC. CONCLUSIONS This meta-analysis suggests that TNFSF15 polymorphisms may contribute to genetic susceptibility of IBD.
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Association of Matrix Gla protein gene (rs1800801, rs1800802, rs4236) polymorphism with vascular calcification and atherosclerotic disease: a meta-analysis.
Sheng, K, Zhang, P, Lin, W, Cheng, J, Li, J, Chen, J
Scientific reports. 2017;(1):8713
Abstract
Association between the MGP gene rs1800801, rs1800802, rs4236 polymorphisms and vascular calcification and atherosclerotic disease was inconsistent. To clarify precise association, we performed this meta-analysis. Medline, Embase and China Knowledge Resource Integrated Database were systematically searched through December 2016. A total of 23 case-control studies, consisting of 5280 cases and 5773 controls, were included. The overall results suggested that the -7A polymorphism was associated with an increased risk for vascular calcification and atherosclerotic disease in the recessive model (OR = 1.50, 95% CI 1.01-2.24, P = 0.045). Subgroup analyses of Caucasians showed significant associations in the allelic model, recessive model, and homozygote model: allelic model (OR = 1.19, 95% CI 1.06-1.34, P = 0.004), recessive model (OR = 1.60, 95% CI 1.26-2.03, P < 0.001), homozygote model (OR = 1.83, 95% CI 1.18-2.81, P = 0.006). Subgroup analysis of the Asian population did not demonstrate any significant associations in any of the genetic models. No significant association was found in any genetic model amongst the rs1800802 and rs4236 polymorphisms. The findings of this meta-analysis indicate that the MGP gene rs1800801 polymorphism is significantly associated with vascular calcification and atherosclerotic disease, especially in the Caucasian population.
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Common variants in the CDH7 gene are associated with major depressive disorder in the Han Chinese population.
Li, X, Wang, Q, He, K, Li, Z, Chen, J, Li, W, Wen, Z, Shen, J, Qiang, Y, Ji, J, et al
Behavior genetics. 2014;(2):97-101
Abstract
Cadherin-7 (CDH7) gene encodes a calcium dependent cell-cell adhesion glycoprotein. Gene loci of cadherins family have been supposed to be involved in the pathogenesis of psychiatric disorders. Recent genome-wide association study also demonstrated that CDH7 was significant associated with bipolar disorder. Due to the fact that the same genetic risk factor can be shared by different kinds of psychiatric disorders, we examined whether CDH7 is also associated with major depressive disorder (MDD) in this study, with a large Han Chinese sample set. We carried out a 2-stage case-control study to examine the association between CDH7 and MDD in the Han Chinese population. Ten tag SNPs were genotyped using Taqman technology in 1,045 MDD patients and 1,520 healthy controls. Single-nucleotide polymorphisms with significance were additionally genotyped in another independent sample set with 576 MDD cases and 576 healthy controls. Among ten genotyped SNPs, rs1444067 and rs12605720 was found to be significantly associated with MDD (rs1444067: P(allele) = 0.00571, OR 0.830, 95 % CI 0.728-0.947; rs12605720: P(allele) = 0.00321, OR 1.245, 95 % CI 1.076-1.441). We successfully replicated these two SNPs association with independent sample sets (rs1444067: P(allele) = 0.00518; rs12605720: P(allele) = 0.0227). Finally we have combined these results by a meta-analysis (rs1444067: P(allele) = 0.000174, OR 0.817; rs12605720: P(allele) = 0.000199, OR 1.255). Our results support CDH7 to be a risk factor of MDD in the Han Chinese population. However, further studies with more markers and independent samples were suggested to validate our findings.
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Functional SNPs in human C20orf54 gene influence susceptibility to esophageal squamous cell carcinoma.
Ji, A, Wang, J, Yang, J, Wei, Z, Lian, C, Ma, L, Ma, L, Chen, J, Qin, X, Wang, Ld, et al
Asian Pacific journal of cancer prevention : APJCP. 2011;(12):3207-12
Abstract
OBJECTIVES C20orf54, also known as a human riboflavin transporter 2 (RFT2), encodes an open reading frame protein RFT2 newly identified to play an important role in esophageal carcinogenesis by modulating riboflavin uptake. Missense cSNPs on exon 3,1172 C>A (T391M) and 1246A>G (I416V) have been suggested to modulate protein expression. The aim of present study was to explore the association of C20orf54 functional SNPs with susceptibility to esophageal squamous cell carcinoma (ESCC) in a northern Chinese population. METHODS 240 patients with ESCC and 198 healthy individuals without overt cancer were chosen as our experimental subjects. Information about family address, sex, age, BMI, smoking and drinking habits and family history of cancer were collected. Blood samples were taken from all subjects and tumor tissues were freshly sampled from resected specimens. After DNA was extracted and amplified, the C20orf54 SNPs were sequenced by ABI 3730XL in BGI China. Frequencies were then calculated and associated with the collected suspicous risk factors. RESULTS Drinking status, a family history of ESCC, blood type and BMI were found to have great influence on the risk of developing ESCC. Overall genotype frequencies of the RFT2 SNP 1172 C>A (rs3746803) and 1246A>G (rs3746802) in ESCC patients are significantly different from that in healthy controls (x2=13.10, P=0.001 and x2=7.97, P=0.019, respectively). For RFT2 rs3746803, C/T+T/T genotype did not show a relationship with the risk of ESCC (the age and gender adjusted OR=0.66, 95% CI=0.41-1.05) when using C/C genotype as the reference. For RFT2 rs3746802, the A/G +G/G genotype demonstrated a significantly decreased risk to the development of ESCC (the age and sex adjusted OR=0.53, 95% CI=0.34-0.84) with A/A as the reference. CONCLUSIONS The present study suggests that the C20orf54 functional SNPs might be associated with a risk of ESCC development.