scholarly journals Genetic variation of SMAD3 is associated with hip osteoarthritis in a Chinese Han population

2018 ◽  
Vol 46 (3) ◽  
pp. 1178-1186 ◽  
Author(s):  
Fuhua Zhong ◽  
Jianwei Lu ◽  
Yangxin Wang ◽  
Hongpu Song
Keyword(s):  
Genetic Variation ◽  
Hip Osteoarthritis ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Healthy Control ◽  
Stratified Analysis

Objective This study was performed to investigate the association between genetic variation in SMAD3 and hip osteoarthritis (OA) in a Chinese Han population. Methods The frequency of two single nucleotide polymorphisms of SMAD3, rs1470002 and rs12901499, was examined in 500 patients with hip OA and 1080 healthy controls in a Chinese Han population. Further analysis was performed according to sex and age. Results We detected statistically significant differences in the allele frequency and genotype between the hip OA and healthy control groups. The frequency of the GA+GG and GA genotypes of rs12901499 and the G variant were much higher in patients with hip OA than in healthy controls. This association was also present when the participants were stratified by sex and age. However, there was no significant association between the risk of hip OA and the presence of rs1470002 GA, AA, or GA+AA genotypes, even after sex- and age-stratified analysis. Conclusions The SMAD3 SNP rs12901499 GA genotype and G variant may increase the risk of hip OA in Chinese Han patients.

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 Positive Association betweenANKRD55Polymorphism 7731626 and Dermatomyositis/Polymyositis with Interstitial Lung Disease in Chinese Han Population

2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Liubing Li ◽  
Si Chen ◽  
Xiaoting Wen ◽  
Qian Wang ◽  
Guanting Lv ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Single Nucleotide Polymorphisms ◽  
Lung Disease ◽  
Positive Association ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population

Single nucleotide polymorphisms (SNPs) inTNFSF4andANKRD55genes have been shown to be associated with several autoimmune diseases, although whether these genes are susceptibility genes for dermatomyositis/polymyositis (DM/PM) has, to date, not been reported. This study aimed to investigate the potential associations of these SNPs with DM/PM in a Chinese Han population. Five SNPs inTNFSF4(rs2205960, rs844644, and rs844648) andANKRD55(rs6859219, rs7731626) genes were genotyped using the SequenomMassArray system in 2297 Chinese individuals. In total, 1017 DM/PM patients and 1280 gender-matched healthy controls were genotyped. No significant associations were observed in DM/PM patients for the five SNPs analyzed. The association between SNPs and interstitial lung disease (ILD) was also investigated. Both DM-ILD (Pc=0.030, OR = 0.65, 95% CI: 0.47–0.88) and DM/PM-ILD (Pc= 0.015, OR = 0.67, 95% CI: 0.51–0.87) exhibited a significant association with the rs7731626-A allele. Rs7731626-A was less frequently found in DM-ILD and DM/PM-ILD patients compared with healthy controls. This is the first study to demonstrate a positive association betweenANKRD55polymorphism and DM-ILD and DM/PM-ILD. A decreased frequency of rs7731626-A in DM-ILD and DM/PM-ILD patients suggests that the A variant may be protective against DM/PM-ILD.

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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