scholarly journals The intragenic epistatic association of ADD3 with biliary atresia in Southern Han Chinese population

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Zhe Wang ◽  
Xiaoli Xie ◽  
Jinglu Zhao ◽  
Ming Fu ◽  
Yonglan Li ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Odds Ratio ◽  
Multifactor Dimensionality Reduction ◽  
Chinese Population ◽  
Epistatic Effect ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Components ◽  
Individual Function ◽  
The Individual

Biliary atresia (BA) is a multifactorial pathogenic disease with possible genetic components. As a member of membrane skeletal proteins in the liver and bile ducts, a haplotype composed by five single nucleotide polymorphisms (SNPs) on adducin 3 (ADD3) has been identified as associated with BA. However, limited study was designed to further elaborate the mutual relationship amongst those replicated SNPs to disease. We selected three susceptibility SNPs in ADD3 and conducted a replication study using 510 BA cases and 1473 controls to evaluate the individual function of the SNPs and further stratified the potential roles with disease and its subclinical features. Two SNPs in ADD3 were replicated as associated with BA (1.60E-04 ≤ P≤1.70E-04, 1.33 ≤ odds ratio (OR) ≤ 1.58 for rs17095355, 2.10E-04 ≤ P≤5.30E-04, 1.26 ≤ OR ≤ 1.57 for rs2501577). Though we failed to replicate the individual association of rs10509906 to disease, the intragenic epistatic effect between rs10509906 and rs2501577 was suggested as exhibiting susceptibility to BA, further cross-validated by multifactor dimensionality reduction (MDR) (P=0.068, OR = 1.37), which may explain extra hidden heritability of ADD3 to BA. Furthermore, through subclinical stratification, we also observed the association of risk to disease mainly came from the female patients.

scholarly journals Association of Single-Nucleotide Polymorphisms in DC-SIGN with Nasopharyngeal Carcinoma Susceptibility

2017 ◽  
Vol 2017 ◽  
pp. 1-6
Author(s):  
Sisi Li ◽  
Zhifang Lu ◽  
Mengwei Yao ◽  
Sisi Ning ◽  
Yuan Wu ◽  
...  
Keyword(s):  
Dendritic Cell ◽  
Nasopharyngeal Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Odds Ratio ◽  
Chinese Population ◽  
Smoking History ◽  
Intercellular Adhesion Molecule ◽  
Nucleotide Polymorphisms ◽  
Gene Encoding ◽  
Single Nucleotide

The aim of this study was to explore potential relationships of four single-nucleotide polymorphisms (SNPs) in the gene encoding dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN) with risk of nasopharyngeal carcinoma (NPC). The DC-SIGN SNPs rs7252229, rs4804803, rs2287886, and rs735240 were genotyped in 477 unrelated NPC patients and 561 cancer-free controls. At rs7252229, risk of NPC was significantly lower in individuals with GC (odds ratio [OR] 0.076, 95% confidence interval [CI] 0.008–0.690), GG (OR 0.056, 95%CI 0.006–0.487), or GC + GG (OR 0.059, 95%CI 0.007–0.515) than in individuals with the CC genotype, after adjusting for age, gender, smoking history, and EBV-VCA-IgA status. At rs4804803, risk of NPC was significantly higher in individuals with the genotype GG than in those with the genotype AA (adjusted OR 9.038, 95%CI 1.708–47.822). At rs735240, risk of NPC did not change significantly with genotypes AG, GG, or AG + GG after adjusting for age, gender, and smoking history. However, when data were also adjusted for EBV-VCA-IgA status, three genotypes emerged as associated with significantly higher risk of NPC than the AA genotype: AG (OR 2.976, 95%CI 1.123–7.888), GG (OR 3.314, 95%CI 1.274–8.622), or GG + AG (OR 3.191, 95%CI 1.237–8.230). Our results suggest that DC-SIGN SNPs rs7252229, rs4804803, and rs735240 may influence NPC risk in the Chinese population. The mechanisms mediating this risk require a further study.

IL1R2 Polymorphisms are Associated with Increased Risk of Esophageal Cancer

2020 ◽  
Vol 20 (5) ◽  
pp. 379-387
Author(s):  
Jianfeng Liu ◽  
Yonghui Yang ◽  
Haiyue Li ◽  
Yuanwei Liu ◽  
Yao Sun ◽  
...  
Keyword(s):  
Esophageal Cancer ◽  
Odds Ratio ◽  
Chinese Population ◽  
Additive Models ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Increased Risk ◽  
Prevention And Treatment

Background: Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide, and the overall incidence is increasing. Objective: The aim of this study was to evaluate the association between single nucleotide polymorphisms in IL1R2 and EC risk in the Chinese population. Methods: Genotyping of six SNPs of IL1R2 was performed with the Agena MassARRAY platform from 384 EC and 499 controls. The association between polymorphisms and EC risk was assessed by performing genetics models and haplotype analyses. Results: Overall analysis results showed that the allele C of rs11674595 (odds ratio [OR] = 1.42, 95% confidence interval [CI]: 1.14-1.77, p = 0.002) and allele G of rs2072472 (allele: OR = 1.35, 95% CI: 1.08-1.69, p = 0.008) were associated with an increased EC risk. The rs11674595 and rs2072472 were found to be correlated with EC risk under the codominant, dominant, and additive models. Stratification analysis found that rs11674595 and rs2072472 were associated with increased EC risk in male and in age > 55 years old subgroup. In addition, Crs11674595Grs4851527 haplotype was significantly associated with 1.44-fold increased risk of EC (95% CI: 1.12-1.84, p = 0.004). Conclusions : Our results reveal the significant association between SNPs (rs11674595 and rs2072472) in the IL1R2 and EC risk in the Chinese Han population. The findings may provide meaningful reference for the prevention and treatment of EC.

Polymorphisms in the PRTOR gene in relation to gastric adenocarcinoma susceptibility in an Eastern Chinese population.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e15552-e15552
Author(s):  
Meng-Yun Wang ◽  
Ming Jia ◽  
Jing He ◽  
Qing-Yi Wei
Keyword(s):  
Gastric Cancer ◽  
Odds Ratio ◽  
Chinese Population ◽  
Adjusted Odds Ratio ◽  
Mrna Level ◽  
Nucleotide Polymorphisms ◽  
Gastric Cancer Risk ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Never Smokers

e15552 Background: RPTOR is an essential scaffold for MTOR complex which is necessary for the MTOR-catalyzed phosphorylation. Methods: In this study of 1,100 gastric cancer (GCa) cases and 1,137 matched cancer-free controls, we investigated associations between eight potentially functional single nucleotide polymorphisms (SNPs) (rs3751934 C > A, rs1062935 T > C, rs12602885 G > A, rs1468032 T > A, rs1468033 A > G, rs2271610 C > G, rs2271612 C > T, and rs2878052 G > A) in RPTOR and gastric cancer risk in an Eastern Chinese Population. Results: In logistic regression analysis, a significantly increased GCa risk was associated with the rs1468032 AA variant genotype (adjusted odds ratio [OR] = 1.32, 95% confidence interval [CI] = 1.09-1.60) under a dominant model, which remained significant after correction by the false-positive reporting probability. This risk was more evident in subgroups of younger subjects, females, never smokers, never drinkers, cancers of non-cardia and stage of Ⅲ+Ⅳ. We then performed SNP-mRNA expression correlation analysis in GTEx database as well as using real-time PCR in adjacent noncancerous tissues. We found that the AA variant genotype was associated with non-significantly decreased expression of RPTOR mRNA level. Conclusions: Our results suggest that the RPTOR rs1468032 A variant may be markers for GCa susceptibility. Larger, independent studies are warranted to validate our findings.

scholarly journals Plasma interleukin-21 levels and genetic variants are associated with susceptibility to rheumatoid arthritis

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Youguo Hao ◽  
Lijun Xie ◽  
Jing Xia ◽  
Zhen Liu ◽  
Baoxiu Yang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Genetic Variants ◽  
Chinese Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Das28 Score ◽  
Single Nucleotide ◽  
Chronic Inflammatory Condition ◽  
Chinese Subjects ◽  
Pro Inflammatory Cytokines

Abstract Background Rheumatoid Arthritis (RA) is a chronic inflammatory condition characterized by autoantibodies development and an elevated spectrum of pro-inflammatory cytokines. Previous reports highlighted a relationship between IL-21and the pathogenesis of RA. Although elevated IL-21 levels have been reported in RA patients, the association of common IL-21 genetic variants with a predisposition to RA development in the Chinese population lacks. Materials and methods Five hundred and fourteen Chinese subjects (healthy controls: 303 and rheumatoid arthritis patients: 211) were enrolled in the study. Clinical data of patients were collected from medical records, and patients were treated as per the guidelines. Common single nucleotide polymorphisms in the IL-21 gene (rs907715, rs2221903, rs2055979 and rs6822844) were genotyped by TaqMan SNPs genotyping method. IL-21 level in plasma of RA patients and healthy subjects was measured by ELISA. Results The plasma level of IL-21 was significantly higher in subjects with rheumatoid arthritis relative to healthy controls (p < 0.0001). A positive correlation was observed between IL-21 level and DAS28 score, indicating the association of the cytokine with the worsening of the disease (Spearman r = 0.61, p < 0.0001). The prevalence of AA genotype (rs2055979) was significantly higher in RA subjects than in the controls (p < 0.0001, χ2 = 34.73, OR = 4.34, 95% CI = 2.623 to 7.219). Furthermore, elevated plasma IL-21 was observed in the rs2055979-AA genotype compared to CC type (p < 0.0001). Conclusion IL-21 plays a crucial function in rheumatoid arthritis pathogenesis. IL-21 rs2055979 polymorphism is associated with IL-21 plasma levels and is predisposed to RA development in the Chinese population.

Association of β-defensin 1 gene Polymorphism and dental caries susceptibility in Tamil Ethnicity

2021 ◽  
pp. 4731-4735
Author(s):  
Harini Venkata Subbiah ◽  
Usha Subbiah ◽  
Athira Ajith
Keyword(s):  
Dental Caries ◽  
Odds Ratio ◽  
Regulatory Elements ◽  
Microbial Colonization ◽  
Nucleotide Polymorphisms ◽  
First Line ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Dental Caries Susceptibility ◽  
Genetic And Environmental Factors

Dental caries is a multifactorial disease that affects a large proportion of the population with both genetic and environmental factors contributing to the disease. Even in healthy oral environmental conditions, some individuals are susceptible to dental caries due to potential genetic contribution. Antimicrobial peptides are expressed in oral cavity and play an important role against microbial colonization and form an important first line defense against cariogenic bacteria. In the present study, we attempt to identify genetic variants that would cause significant functional impact towards susceptibility to dental caries. We investigated single nucleotide polymorphisms (SNPs) of beta-defensin 1 (DEFB1) as predictors of dental caries in tamil ethnic population. A total of 120 subjects were recruited for this study, which included 60 dental caries patients (DMFT>5) and 60 healthy controls (DMFT=0). Three SNPs of 5’UTR regulatory elements of DEFB1 were genotyped by PCR followed by Sanger sequencing. The genotypes associated with susceptibility to caries were found to be significant between rs11362 (p=.025, odds ratio = 3.72, 95% confidence interval (CI) = 1.289-10.742), rs1799946 (p=.023, odds ratio=4.32, 95% CI = 1.33-14.028) gene polymorphisms and risk of dental caries (DMFT>5) in tamil ethnicity. The variant genotype GG of rs1800972 polymorphism was found to be high in cases than controls but was not significant (p=0.136). Our data suggested that β-defensin 1 polymorphisms play a role in the susceptibility to dental caries.

scholarly journals HMGB1 gene polymorphism is associated with coronary artery lesions and intravenous immunoglobulin resistance in Kawasaki disease

Rheumatology ◽  
2018 ◽  
Vol 58 (5) ◽  
pp. 770-775 ◽  
Author(s):  
Jong Gyun Ahn ◽  
Yoonsun Bae ◽  
Dongjik Shin ◽  
Jiho Nam ◽  
Kyu Yeun Kim ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Single Nucleotide Polymorphisms ◽  
Odds Ratio ◽  
Ivig Treatment ◽  
Nucleotide Polymorphisms ◽  
Coronary Artery Lesions ◽  
Hmgb1 Level ◽  
Single Nucleotide ◽  
Ivig Resistance

Abstract Objectives Kawasaki disease (KD) is an acute systemic vasculitis of unknown aetiology that affects infants and young children. Recent reports of elevated serum high mobility group box 1 (HMGB1) level during the acute phase of KD and its relationship to poor response to IVIG treatment suggest a possible association of HMGB1 polymorphisms with KD. We investigated the association between the polymorphisms of the HMGB1 gene, KD susceptibility, coronary artery lesions, and KD response to IVIG treatment. Methods Whole genome sequencing of the HMGB1 gene was performed to identify causative variants. Two tagging single nucleotide polymorphisms of the HMGB1 gene were selected using linkage disequilibrium analysis. The tagging single nucleotide polymorphisms were genotyped using the TaqMan Allelic Discrimination assay in a total of 468 subjects (265 KD patients and 203 controls). Results The HMGB1 single nucleotide polymorphisms were not associated with KD susceptibility. However, in KD patients, there was a significant association of rs1412125 with coronary artery lesions formation in the recessive model (GG vs AA + GA: odds ratio = 4.98, 95% CI = 1.69–14.66, P = 0.005). In addition, rs1412125 was associated with IVIG resistance in the recessive (GG vs AA + GA: odds ratio = 4.11, 95% CI = 1.38–12.23, P = 0.017) and allelic models (G vs A: odds ratio = 1.80, 95% CI = 1.06–3.06, P = 0.027). Conclusion The rs1412125 in HMGB1 might be a risk factor for the development of coronary artery lesions and IVIG resistance in KD patients.

scholarly journals Single nucleotide polymorphisms in MLH1 predict poor prognosis of hepatocellular carcinoma in a Chinese population

Oncotarget ◽  
2017 ◽  
Vol 8 (45) ◽  
pp. 80039-80049 ◽  
Author(s):  
Xiaonian Zhu ◽  
Wei Liu ◽  
Xiaoqiang Qiu ◽  
Zhigang Wang ◽  
Chao Tan ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
Poor Prognosis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide
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