Dataset Information

Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.

ABSTRACT: BACKGROUND AND OBJECTIVES: Based on the results of previous studies, the ADD3 gene, located in the 10q24.2 region, may be a susceptibility gene of biliary atresia (BA). In this study, two single nucleotide polymorphisms (SNPs) in the ADD3 gene, rs17095355 C/T and rs10509906 G/C, were selected to investigate whether there is an association between these SNPs and susceptibility to BA in a Chinese population. METHODS: A total of 752 Han Chinese (134 BA cases and 618 ethnically matched healthy controls) were included in the present study. The ADD3 gene polymorphisms were genotyped using a TaqMan genotyping assay. RESULTS: Positive associations were found for the SNP rs17095355 in the codominant model; specifically, the frequencies of the CT and TT genotypes and the T allele were higher in the cases than the controls, demonstrating a significant risk for BA (odds ratio [OR]?= 1.62, 95% confidence interval [CI]?= 1.02-2.58; OR = 2.89, 95% CI = 1.72-4.86; and OR = 1.75, 95% CI = 1.34-2.29, respectively). Regarding rs10509906, the per-C-allele conferred an OR of 0.70 (95% CI = 0.49-1.00) under the additive model. A greater risk of BA was associated with the T(a)-G(b) (a for rs17095355 and b for rs10509906) haplotype (OR = 1.82, 95% CI = 1.27-2.61) compared with the C(a)-C(b) haplotype. CONCLUSION: This study suggests that the ADD3 gene plays an important role in BA pathogenesis and reveals a significant association between two SNPs, rs17095355 and rs10509906, and BA.

SUBMITTER: Zeng S

PROVIDER: S-EPMC4186752 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.

Zeng Shuaidan S Sun Peng P Chen Zimin Z Mao Jianxiong J Wang Jianyao J Wang Bin B Liu Lei L

PloS one 20141006 10

<h4>Background and objectives</h4>Based on the results of previous studies, the ADD3 gene, located in the 10q24.2 region, may be a susceptibility gene of biliary atresia (BA). In this study, two single nucleotide polymorphisms (SNPs) in the ADD3 gene, rs17095355 C/T and rs10509906 G/C, were selected to investigate whether there is an association between these SNPs and susceptibility to BA in a Chinese population.<h4>Methods</h4>A total of 752 Han Chinese (134 BA cases and 618 ethnically matched ...[more]

PMID: 25285724

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Project description:ObjectiveThis study aims to investigate and analyze the connection between PITX2 polymorphisms and the susceptibility of congenital esophageal atresia.MethodsFrom January 2015 to June 2020, 46 children with congenital esophageal atresia undergoing surgery were recruited for the study and placed in an observation group, and 40 neonates born in pediatrics during the same period were also recruited for the study and placed in a control group. The alleles and distribution frequencies of the polymorphisms of PITX2 gene rs2200733 were analyzed, and the odds ratio (OR) of esophageal atresia caused by the rs2200733 polymorphism were calculated using a logistic analysis.ResultsIn the observation group, there were 23 patients (50.00%) with the TT genotype of rs2200733, 21 patients with the TC genotype (45.65%), and 2 patients with the CC genotype (4.35%). In the control group, there were 13 patients with the TT genotype (32.50%), 17 patients with the TC genotype (42.50%), and 10 patients with the CC genotype (25.00%), and the differences in the genotypes between the two groups were statistically significant (P<0.05). The frequencies of the T-alleles and C-alleles of rs2200733 in the observation group were 72.83% and 27.17% respectively, while the frequencies of the control group were 53.75% and 46.25% respectively, and the differences in the rs2200733 allele frequencies were statistically significant (P>0.05). Taking the CC genotype as a reference, the neonates with the TC genotype (OR=2.978, 95% CI=1.084~7.952, P=0.042) or the neonates with the TT genotype (OR=4.778, 95% CI=1.208~13.492, P=0.009) had an increased risk of esophageal atresia, of which the TT genotype indicated a higher risk.ConclusionThe polymorphic site rs2200733 (T/C) of the PITX2 gene is connected to the incidence of congenital esophageal atresia. The T-allele is a risk factor for congenital esophageal atresia, and compared with the CC genotype, the TT genotype has an increased risk of esophageal atresia.

Project description:ObjectiveThe purpose of the present study was to evaluate the associations between seven tagging single nucleotide polymorphisms (tSNPs) and risk of breast cancer assessed by tumor pathological characteristics and body mass index (BMI).MethodsSeven tSNPs of four breast cancer susceptibility genes were analyzed in 734 Chinese women with breast cancer and 672 age-matched healthy controls; then, the association with clinicopathological characteristics, BMI, molecular subtype, TNM (T, tumor; N, lymph node; M, metastasis) staging and lymph node status was determined by unconditional logistic regression.ResultsRs12951053 in TP53 and rs16945628 in BRIP1, displayed increased risk of breast cancer in the BMI ≧ 25 kg/m2 group (OR=1.50, 95% CI: 1.02-2.21, P=0.041 and OR=1.92, 95% CI: 1.13-3.26, P=0.015, respectively). The other five tSNPs (rs1805812, rs2735385 and rs6999227 in NBS1, rs7220719 in BRIP1 and rs2299941 in PTEN) displayed a decreased risk of breast cancer in the 18.5≤BMI<25 kg/m2 group. Rs12951053 in TP53 and rs7220719 in BRIP1 exhibited an increased risk of triple-negative breast cancer (OR=1.50, 95% CI: 1.05-2.15, P=0.026 and OR=2.13, 95% CI: 1.05-4.29, P=0.032, respectively), but three tSNPs in NBS1 (rs1805812, rs2735385 and rs6999227) all displayed a negative association with both luminal B and triple-negative breast cancer. The tSNP rs2299941 in PTEN also exhibited a negative association with each molecular subtype, except triple-negative breast cancer. The majority of tSNPs displayed a negative association with stage II or III breast cancer. Most tSNPs showed a negative association with breast cancer that was lymph node negative or with 1-3 positive nodes. Only rs12951053 in TP53 displayed a positive association with lymph node-negative breast cancer (OR=1.43, 95% CI: 1.08-1.91, P=0.013).ConclusionThe majority of tSNPs displayed a negative association with breast cancer and only a few tSNPs (rs12951053 in TP53, rs16945628 and rs7220719 in BRIP1) showed an increased risk of breast cancer as defined by clinicopathological characteristics.

Dataset Information

Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.

Publications

Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.

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