scholarly journals A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Yunqing Ren ◽  
Wenting Liu ◽  
Jisu Chen ◽  
Jianyou Wang ◽  
Ke Wang ◽  
...  
Keyword(s):  
Missense Variant ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Clinical Phenotypes ◽  
Abcc11 Gene ◽  
Axillary Osmidrosis

scholarly journals Validation of Susceptibility Loci for Vitiligo Identified by GWAS in the Chinese Han Population

2020 ◽  
Vol 11 ◽  
Author(s):  
Lu Cheng ◽  
Bo Liang ◽  
Xian-Fa Tang ◽  
Xin-Ying Cai ◽  
Hui Cheng ◽  
...  
Keyword(s):  
Association Studies ◽  
Strong Association ◽  
Missense Variant ◽  
Chinese Han Population ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Susceptibility Loci ◽  
Chinese Han ◽  
Han Population ◽  
Dbsnp Database

Forty-nine susceptible loci have been reported to be significantly associated with vitiligo by genome-wide association studies (GWASs) in European-derived whites. To date, some of these reported susceptibility loci have not yet been validated in the Chinese Han population. The purpose of this study was to examine whether the 16 reported susceptible loci in European-derived whites were associated with vitiligo in the Chinese Han population. Imputation was performed using our previous GWAS dataset by IMPUTE v2.2.2. The 16 imputed top single-nucleotide polymorphisms (SNPs) with suggestive signals, together with the reported SNPs, were genotyped in a total of 2581 patients and 2579 controls by the Sequenom MassARRAY system. PLINK 2.0 software was used to perform association analysis. The dbSNP database, HaploReg, and eQTL data were adopted to annotate the biological function of the SNPs. Finally, four SNPs from three loci were significantly associated with vitiligo, including rs3747517 (P = 1.29 × 10–3, OR = 0.87) in 2q24.2, rs4807000 (P = 7.78 × 10–24, OR = 0.66) and rs6510827 (P = 3.65 × 10–5, OR = 1.19) in 19p13.3, and rs4822024 (P = 6.37 × 10–10, OR = 0.67) in 22q13.2. According to the dbSNP database, rs3747517 is a missense variant of IFIH1, rs4807000 and rs6510827 are located in TICAM1, and rs4822024 is located 6 kb upstream of TEF. Further bioinformatics analysis by HaploReg and eQTL found that rs4807000, rs6510827, and rs4822024 are involved in regulating gene expression. Our study revealed the strong association of 2q24.2 (rs3747517), 19p13.3 (rs4807000, rs6510827), and 22q13.2 (rs4822024) with the risk of vitiligo in the Chinese Han population, which implicates common factors for vitiligo across different ethnicities, and helps expand the understanding of the genetic basis of this disease.

CYP2B6 Polymorphisms Are Associated with Ischemic Stroke Risk in a Chinese Han Population

2020 ◽  
Vol 70 (7) ◽  
pp. 1130-1139
Author(s):  
Guolong Tu ◽  
Wenliang Zhan ◽  
Yao Sun ◽  
Jiamin Wu ◽  
Zichao Xiong ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Stroke Risk ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Ischemic Stroke Risk

Association of KIF21B genetic polymorphisms with ankylosing spondylitis in a Chinese Han population of Shandong Province

2014 ◽  
Vol 34 (10) ◽  
pp. 1729-1736 ◽  
Author(s):  
Xinglin Yang ◽  
Ming Li ◽  
Liya Wang ◽  
Zhongdan Hu ◽  
Yuanchao Zhang ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Genetic Polymorphisms ◽  
Shandong Province ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population

Polymorphisms of RIG‐I‐like receptor influence HBV clearance in Chinese Han population

2021 ◽  
Author(s):  
Yinan Yao ◽  
Yan Shen ◽  
Haifeng Shao ◽  
Yuchang Liu ◽  
Yan Ji ◽  
...  
Keyword(s):  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population

scholarly journals Association of ST6GAL1 and CYP19A1 polymorphisms in the 3′-UTR with astrocytoma risk and prognosis in a Chinese Han population

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tuo Wang ◽  
Yao Sun ◽  
Zichao Xiong ◽  
Jiamin Wu ◽  
Xiaoying Ding ◽  
...  
Keyword(s):  
Cox Regression ◽  
Chinese Han Population ◽  
Low Grade ◽  
Central Nervous System Tumor ◽  
Chinese Han ◽  
Cox Regression Analysis ◽  
Han Population ◽  
Potential Biomarker ◽  
Codominant Model ◽  
System Tumor

Abstract Background Astrocytoma is a common type of central nervous system tumor. In this study, we investigated the correlation between ST6GAL1 and CYP19A1 polymorphisms and the risk and prognosis of astrocytoma. Methods A total of 365 astrocytoma patients and 379 healthy controls were genotyped using the Agena MassARRAY system. The correlation between ST6GAL1 and CYP19A1 variants and astrocytoma risk was calculated using logistic regression. The survival rate of patients with astrocytoma was analyzed to evaluate prognosis. Results We found that the ST6GAL1-rs2239611 significantly decreased the risk of astrocytoma in the codominant model (p = 0.044) and dominant model (p = 0.049). In stratified analyses, CYP19A1-rs2255192 might be associated with a higher risk of astrocytoma among the low-grade subgroup under recessive (p = 0.034) and additive (p = 0.030) models. However, CYP19A1-rs4646 had a risk-decreasing effect on the high-grade subgroup in the codominant model (p = 0.044). The results of Cox regression analysis showed that the CYP19A1-rs2239611 and -rs1042757 polymorphisms were significantly correlated with the prognosis of astrocytoma. Conclusion Our results suggest that ST6GAL1 and CYP19A1 genes may be a potential biomarker of genetic susceptibility and prognosis to astrocytoma in the Chinese Han population.

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