scholarly journals Association of NLRP1 and NLRP3 Polymorphisms with Psoriasis Vulgaris Risk in the Chinese Han Population

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Pei Yu ◽  
Siyu Hao ◽  
Hewei Zheng ◽  
Xueying Zhao ◽  
Yuzhen Li
Keyword(s):  
Psoriasis Vulgaris ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Ligation Detection Reaction ◽  
Control Study

Aim. To clarify the association between the single nucleotide polymorphisms (SNPs) in the NLRP1 and NLRP3 and Psoriasis Vulgaris (PsV) in the Chinese Han population. Methods. We genotyped eight SNPs, four from NLRP1 (rs8079034, rs11651270, rs11657747, and rs878329) and NLRP3 (rs7512998, rs3806265, rs10754557, and rs10733113) each in 540 patients with PsV and 612 healthy controls in the Chinese Han population using an improved multiplexed ligation detection reaction (iMLDR) method. The genotype and haplotype frequencies were analyzed using a case-control study design. Results. We identified two SNPs, rs3806265 and rs10754557, in NLRP3 that were significantly associated with PsV. The genotype distribution of the rs3806265 SNP was significantly different between cases and controls (p=0.0451; OR = 0.791; 95% CI = 0.627–0.998). In the recessive model, the genotype distribution of the rs10754557 SNP was significantly different between cases and controls (p=0.0344; OR = 1.277; 95% CI = 0.987–1.652). The haplotype analysis of rs3806265 and rs10754557 also presented a significant association of TA haplotype with PsV (χ2=4.529; p=0.033). Conclusion. NLRP3 may play a role in PsV susceptibility in the Chinese Han population.

scholarly journals Analysis of Single Nucleotide Polymorphisms within ADAM12 and Risk of Knee Osteoarthritis in a Chinese Han Population

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lin Wang ◽  
Lin Guo ◽  
Fengde Tian ◽  
Ruihu Hao ◽  
Tiejun Yang
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Population Based ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Genotype Frequencies ◽  
Increased Risk

Objective. Osteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a major role. One of the candidate genes of is the ADAM12 gene, but no consistency has been reached till now. This study aims to investigate the potential role of four single nucleotide polymorphisms (SNPs) of the ADAM12 gene in susceptibility to knee OA and its progression in Chinese Han population.Methods. The rs1278279, rs3740199, rs1044122, and rs1871054 polymorphisms were genotyped and compared in a population based cohort consisting of 164 OA subjects and 200 age- and gender-matched controls.Results. The SNP rs1871054 was found with increased risk of OA susceptibility in comparing the genotype frequencies between the case and control groups no matter for which model of comparison (allele level, dominant model, recessive model, and extreme genotype model). Additionally, the SNP rs1871054 was found associated with increased OA severity according to the K/L grade.Conclusion. In summary, we have identified that the rs1871054 variant within the ADAM12 gene is a risk factor for increased osteoarthritis susceptibility and severity.

scholarly journals Association of Polymorphisms of Metabolism-Related Genes with Psoriasis Vulgaris in Han Chinese

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Yu Liu ◽  
Xin Li ◽  
Yan-Ping Huang ◽  
Zi-Yu Cui ◽  
Jia Bao ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Psoriasis Vulgaris ◽  
Chronic Inflammatory Disease ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Stratified Analysis ◽  
The Relationship

Aim. Psoriasis is a chronic inflammatory disease with a complex etiology, and psoriasis vulgaris (PsV) is the most common type of psoriasis. Recent studies suggest the relationship between psoriasis and metabolic syndrome in different ethnicities. This study is aimed at evaluating the association of metabolism-related gene variants with the risk of PsV in Chinese Han population. Material and Methods. PsV patients (1030) and healthy controls (965) were enrolled in this study. Eighteen single-nucleotide polymorphisms (SNPs) previously reported to be significantly associated with metabolic syndrome were selected. SNPs were detected by next-generation sequencing. Results. Seven SNPs were significantly associated with PsV: rs805303 ( P = 0.012 , OR = 0.85 ), rs3177928 ( P = 1.37 × 10 − 15 , OR = 2.51 ), and rs2247056 ( P = 3.73 × 10 − 4 , OR = 0.67 ) located in the HLA gene region; rs1047781 ( P = 0.012 , OR = 1.18 ), rs281379 ( P = 0.014 , OR = 1.71 ), and rs492602 ( P = 0.005 , OR = 1.86 ) located in the FUT2 region; and rs2303138 ( P = 0.014 , OR = 1.18 ) located in the LNPEP region. After stratified analysis, rs805303 ( P = 0.017 , OR = 0.74 ) and rs2303138 ( P = 0.041 , OR = 1.30 ) were associated with PsVs when HLA-C ∗ 06 : 02 was positive, and rs805303 ( P = 5.62 × 10 − 5 , OR = 0.68 ), rs3177928 ( P = 0.003 , OR = 1.75 ), rs281379 ( P = 0.034 , OR = 1.96 ), and rs492602 ( P = 0.025 , OR = 2.04 ) were associated with PsVs when HLA-C ∗ 06 : 02 was negative. Conclusion. PsV and metabolic syndrome may have overlapped susceptible genes in Chinese Han population.

scholarly journals Association between ABC family variants rs1800977, rs4149313, and rs1128503 and susceptibility to type 2 diabetes in a Chinese Han population

2020 ◽  
Vol 48 (8) ◽  
pp. 030006052094134
Author(s):  
Ruicheng Yan ◽  
Jianfei Luo ◽  
Xiaobo He ◽  
Shijun Li
Keyword(s):  
Type 2 Diabetes ◽  
Genetic Variants ◽  
Recessive Model ◽  
Genetic Models ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population

Objective To investigate the association between three single nucleotide polymorphisms (SNPs) of the ATP-binding cassette (ABC) gene family and susceptibility to type 2 diabetes mellitus in a Chinese Han population. Methods A total of 1086 type 2 diabetes patients and 1122 healthy controls were included in this retrospective study. Three genetic variants, rs1800977 and rs4149313 in ABCA1, and rs1128503 in ABCB1 were included in the study. Susceptibility to type 2 diabetes was evaluated under three genetic models. Results A significant association between rs1800977 and type 2 diabetes was identified in three different genetic models (TT vs CC, odds ratio [OR] = 0.611 [95% confidence interval (CI), 0.469–0.798]; T vs C, OR = 0.841 [95% CI, 0.745–0.950]; and the recessive model, OR = 0.606 [95% CI, 0.474–0.774]). Additionally, a significant association between rs4149313 and type 2 diabetes was identified in three different genetic models (AA vs GG, OR = 0.467 [95% CI, 0.326–0.670]; A vs G, OR = 0.819 [95% CI, 0.717–0.935]; and the recessive model, OR = 0.478 [95% CI, 0.336–0.680]). Conclusion We found that SNPs rs1800977 and rs4149313 in ABCA1 are significantly associated with susceptibility to type 2 diabetes in a Chinese population, although this should be confirmed in a larger study.

scholarly journals Genetic Variations rs859, rs4646, and rs372883 in the 3′-Untranslated Regions of Genes Are Associated with a Risk of IgA Nephropathy

2019 ◽  
Vol 44 (2) ◽  
pp. 233-244 ◽  
Author(s):  
Xiaohong Yang ◽  
Gang Jin ◽  
Yin Zhang ◽  
Maowei Xie ◽  
Wenning Li ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Case Control Study ◽  
Chinese Han Population ◽  
Untranslated Regions ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
And Gender ◽  
Control Study

Background: Previous studies indicate that genetic factors play an important role in the pathogenesis of IgA nephropathy (IgAN). To evaluate the association between single nucleotide polymorphisms (SNPs) in the 3′-untranslated region (3′-UTR) of genes and IgAN risk, we performed a case-control study in a Chinese Han population. Materials: Twelve SNPs were selected and genotyped in 384 IgAN patients and 357 healthy controls. Odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistic regression adjusted for age and gender. Multifactor dimensionality reduction (MDR) was used to analyze the interaction of SNP-SNP with IgAN risk. Results: Our study demonstrated that IL-16 rs859 (OR = 0.75, p = 0.040) and CYP19A1 rs4646 (OR = 2.58, p = 0.017) polymorphism were related to the risk of IgAN. In stratified analyses by gender, CYP19A1 rs4646 (OR = 2.96, p = 0.015) and BACH1 rs372883 (OR = 1.81, p = 0.038) polymorphisms conferred susceptibility to IgAN in males. Besides, rs372883 reduced IgAN risk in females (OR = 0.44, p = 0.042). We also found rs859 polymorphism was correlated with grade I-II (OR = 0.42, p = 0.028) in subgroup analysis of Lee’s classification. Additionally, we found rs4646 polymorphism was correlated with serum creatinine (p = 0.035). Conclusion: Our results suggested that the IL-16 rs859, CYP19A1 rs4646, and BACH1 rs372883 polymorphisms have potential roles in the genetic susceptibility to IgAN in Chinese Han population.

scholarly journals A new discovery of STAT4 single nucleotide polymorphisms associated with hepatocellular carcinoma risk in Chinese Han population: a case-control study

2021 ◽  
Author(s):  
Xu Chao ◽  
Jieqiong Wu ◽  
Wei Zhang ◽  
Xuesong Feng ◽  
Luyan Zhao ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Control Study

Background: Hepatocellular carcinoma (HCC) is a common fatal malignant tumor worldwide. STAT4 is HCC susceptibility gene identified by genome-wide association study. The purpose of this study was to determine the association between four candidate single nucleotide polymorphisms (SNPs) in STAT4 genes and HCC risk in Chinese Han population. Methods: A case-control study was conducted to assess the association between STAT4 SNPs and HCC risk in 1011 Chinese Han population. Agena MassARRAY was used to genotype SNPs. The association between SNPs and HCC susceptibility under different genetic models was evaluated by logistic regression analysis. Multifactorial dimension reduction (MDR) analyzed the interaction of ‘SNP-SNP’ in HCC risk. The difference of clinical characteristics between different genotypes was completed by ANOVA. Results: The results showed that STAT4 rs11889341 was significantly associated with HCC risk under multiple genetic models (homozygote: OR = 0.60, p = 0.033; recessive: OR = 0.63, p = 0.028; log-additive: OR = 0.83, p = 0.032). The results of subgroup analysis showed that STAT4 rs11889341 is significantly associated with HCC risk with participants who were > 55 years, male or smoking. Both STAT4 rs7574865 and rs10174238 were significantly associated with HCC risk among participants who were > 55 years old, smoking or drinking. STAT4 haplotype (Trs11889341Trs7574865) could reduce the risk of HCC. In addition, rs11889341 and rs7574865 were significantly associated with the level of serum ferritin. Conclusion: STAT4 rs11889341, rs7574865 or rs10174238 is potentially associated with HCC risk in Chinese Han population. In particular, rs11889341 showed outstanding association with HCC risk.

scholarly journals IL-1R2 Polymorphisms and its Interaction Associates With Osteoporosis Susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  
Keyword(s):  
Negative Regulator ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Testing Accuracy ◽  
Relationship Of ◽  
The Relationship ◽  
Osteoporosis Risk

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.

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