scholarly journals Association of Common Variant Rs2281135 of PNPLA3 with Alcohol-Related Cirrhosis in Chinese Han Males

2021 ◽  
Vol 8 (2) ◽  
Author(s):  
Chen H ◽  
◽  
Zhang Y ◽  
Huang J ◽  
Yang F ◽  
...  
Keyword(s):  
Liver Disease ◽  
Genetic Model ◽  
Association Studies ◽  
Common Variant ◽  
Genome Wide Association Studies ◽  
Chinese Han ◽  
Chi Square ◽  
Nonalcoholic Fatty Liver ◽  
Han Population ◽  
Increased Risk

Background and Aim: Alcoholic Liver Disease (ALD), caused by longterm heavy alcohol consumption, is influenced by genetic factors. Studies have illustrated the overlapping genetic mechanism in Nonalcoholic Fatty Liver Disease (NAFLD) and ALD. Recently, a number of Genome-Wide Association Studies (GWAS) have demonstrated several SNPs were strongly associated with NAFLD. The aim of present study is to evaluate the association between these NAFLD-associated SNPs and ALD in Chinese Han population. Methods: Nine SNPs were selected and genotyped in a cohort of 507 patients with ALD and 645 healthy controls by using MassARRAY iPLEX system. Alleles and genotypes analysis of SNPs were performed in logistic regression. The association between SNP and the level of liver serum biomarkers was tested in chi-square test and linear regression model. Results: Our data confirmed that rs2281135 A-allele in PNPLA3 and rs3761472 G-allele in SAMM50 were significantly associated with increased risk of ALD (P = 1.93×10-12, OR [95% CI] = 1.82 [1.54-2.15]; P = 2.08×10-16, OR [95% CI] = 1.06 [1.04-1.08], respectively). The genotypes of rs2281135 were associated with ALD in additive, dominant and recessive genetic model (P = 1.24×10-11, P = 1.46×10-7, P = 2.07×10-9, respectively). In addition, rs2281135 was found to be associated with serum elevated levels of ALT (P = 5.0×10-3), AST (P = 0.03), ALP (P = 0.02), GGT (P = 0.03) in patients with ALD. Conclusions: The present study confirmed that PNPLA3 common variant rs2281135 was significantly associated with ALD in Chinese male Han population.

SYNJ2 Variant Rs9365723 is Associated with Colorectal Cancer Risk in Chinese Han Population

2016 ◽  
Vol 31 (2) ◽  
pp. 138-143 ◽  
Author(s):  
Qingguo Du ◽  
Xueyan Guo ◽  
Xiyang Zhang ◽  
Wenjing Zhou ◽  
Zhuo Liu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Genetic Model ◽  
Association Studies ◽  
Chinese Han Population ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Purpose Colorectal cancer (CRC) is the third most common cancer and fourth leading cause of cancer mortality, and twin studies have shown that approximately 35% of the variation in susceptibility to CRC involves inherited genetic differences. We sought to investigate potential genetic associations between some single nucleotide polymorphisms (SNPs) and the risk of CRC in the Chinese Han population. Methods We conducted a case-control study including 269 cases and 309 controls. Sixteen SNPs associated with CRC risk were selected from previous genome-wide association studies and genotyped using Sequenom MassARRAY technology. Odds ratios and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusting for age and gender. Results Using the chi-squared test we found that rs9365723 was associated with CRC risk (p = 0.012). With genetic model analysis, the genotype A/G-G/G (OR = 1.50; 95% CI 1.02-2.21; p = 0.038) of rs9365723 showed an increased risk of CRC in the dominant model. Furthermore, we found that rs9365723 was associated with an increased risk only for colon cancer but not rectal cancer (p = 0.009 and p = 0.414, respectively). Conclusions Our results, combined with previous studies, suggest that rs9365723, located on SYNJ2, is associated with the risk of CRC in a Chinese population. Thus, SYNJ2 may play a role in the development of CRC, especially colon cancer.

scholarly journals Polymorphism of HDAC9 Gene Is Associated with Increased Risk of Acute Coronary Syndrome in Chinese Han Population

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Zhenhua Han ◽  
Xin Dong ◽  
Chaoying Zhang ◽  
Yue Wu ◽  
Zuyi Yuan ◽  
...  
Keyword(s):  
Acute Coronary Syndrome ◽  
Association Studies ◽  
Chinese Han Population ◽  
Control Group ◽  
Allele Carrier ◽  
Genome Wide Association Studies ◽  
Chinese Han ◽  
Han Population ◽  
Coronary Syndrome ◽  
Increased Risk

Recent genome-wide association studies (GWAS) have indicated an association of histone deacetylase 9 (HDAC9) genetic variant with large-vessel stroke and coronary artery disease, among the European population. However, whether HDAC9 gene is associated with an increased susceptibility to acute coronary syndrome (ACS) in Chinese Han population is not known. A total of 472 patients, including patients with ACS (N=309), and those with chest pain syndrome (controls,N=163) were enrolled. Genotyping for HDAC9 gene was performed using the ligation detection reaction assay. A series of statistical analyses were performed to investigate the correlation between HDAC9 gene SNPs and the susceptibility to ACS. The results revealed a significant association of rs2240419 with ACS risk in which the A allele (P= 0.047) and the A allele carriers (AA + AG) (P= 0.037) were more likely to be in ACS group as compared to those in the control group. None of two other SNPs, rs2389995 and rs2107595, were significantly associated with ACS risk (P> 0.05). Logistic regression analyses further revealed an increased risk for ACS in A allele carrier among rs2240419 genotypes, as compared to those with GG homozygotes (odds ratio: 1.869, 95% CI 1.143, 3.056,P= 0.013). A significant correlation between rs2240419 polymorphism of HDAC9 gene and the susceptibility to ACS in Chinese Han population was observed in this study.

scholarly journals Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility

2020 ◽  
Author(s):  
Miao-miao Zhang ◽  
Guo Chen ◽  
Yu Wang ◽  
Shou quan Wu ◽  
Andrew J Sandford ◽  
...  
Keyword(s):  
Airway Epithelium ◽  
Association Studies ◽  
Chinese Han Population ◽  
Binary Logistic Regression Analysis ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Asthma Susceptibility ◽  
Asthma Risk

Abstract Background: As a main line of defense of the respiratory tract, the airway epithelium plays an important role in the pathogenesis of asthma. CDHR3 and EMSY were reported to be expressed in the human airway epithelium. Although previous genome-wide association studies found that the two genes were associated with asthma susceptibility, similar observations have not been made in the Chinese Han population. Methods: A total of 300 asthma patients and 418 healthy controls unrelated Chinese Han individuals were enrolled. Tag-single nucleotide polymorphisms (Tag-SNPs) were genotyped and the associations between SNPs and asthma risk were analyzed by binary logistic regression analysis. Results: After adjusting for confounding factors, the A allele of rs3847076 in CDHR3 was associated with increased susceptibility to asthma (OR = 1.407, 95% CI: 1.030-1.923). For the EMSY gene, the T alleles of both rs2508746 and rs12278256 were related with decreased susceptibility to asthma (additive model: OR = 0.718, 95% CI: 0.536-0.961; OR = 0.558, 95% CI: 0.332-0.937, respectively). In addition, the GG genotype of rs1892953 showed an association with increased asthma risk under the recessive model (OR = 1.667, 95% CI: 1.104-2.518) and the GATCTGAGT haplotype in EMSY was associated with reduced asthma risk ( P = 0.037). Conclusions: This study identified novel associations of rs3847076 in CDHR3 , as well as rs1892953, rs2508746 and rs12278256 in EMSY with adult asthma susceptibility in the Chinese Han population. Our observations suggest that CDHR3 and EMSY may play important roles in the pathogenesis of asthma in Chinese individuals. Further study with larger sample size is needed.

Association of SHROOM3-rs17319721 with GFR in a Chinese Han population

2020 ◽  
Author(s):  
Xue-Hui Sun ◽  
Xiao-Yan Jiang ◽  
Ze-Kun Chen ◽  
Jie Chen ◽  
Zhi-Jun Bao ◽  
...  
Keyword(s):  
Kidney Diseases ◽  
Association Studies ◽  
Community Dwelling ◽  
Chinese Han Population ◽  
European Ancestry ◽  
Baseline Survey ◽  
Genome Wide Association Studies ◽  
Chinese Han ◽  
Han Population ◽  
Kidney Impairment

Abstract Background To explore the associations of several genetic variants identified in the genome-wide association studies (GWAS) of European ancestry with glomerular filtration rate (GFR) in Chinese Han population. Methods Data of 1788 community-dwelling elders from the baseline survey of the ageing arm of the Rugao Longevity and Ageing Study was used. Plasma creatinine based GFR was estimated using the eGFR-EPI equations. Results Of the 10 selected polymorphisms identified in GWAS of the European ancestry, rs17319721 located in the first intron of the SHROOM3, was associated with GFR. A allele was associated with both decreased GFR level and greater odds of GFR decrease (OR 1.12, 95% CI 1.01-1.23, p=0.029) defined by GFR<90 mL/min/1.73 m2 after adjusting for multiple confounds of CKD. In addition, compared with rs17319721-GG genotype, AA was associated with both higher depressive score and greater risk of depression prevalence, showing a pleiotropic effects of rs17319721. However, we did not found significant association of GFR levels with another 42 common polymorphisms that was previously reported to be associated with the traditional risk factors of kidney diseases. Conclusions SHROOM3-rs17319721 was associated with GFR levels, kidney impairment, and depressive symptoms in a Chinese population.

PHACTR1 gene polymorphism with the risk of coronary artery disease in Chinese Han population

2019 ◽  
Vol 95 (1120) ◽  
pp. 67-71 ◽  
Author(s):  
Lishan Chen ◽  
Hang Qian ◽  
Zhihuan Luo ◽  
Dongfeng Li ◽  
Hao Xu ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Logistic Regression ◽  
Coronary Artery ◽  
Genetic Model ◽  
Smoking Habit ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Artery Disease

BackgroundCoronary artery disease (CAD) is the most frequent multifactorial disease worldwide and is characterised by endothelial injury, lipid deposition and coronary artery calcification. The purpose of this study was to determine the allelic and genotypic frequencies of two loci (rs2026458 and rs9349379) of phosphatase and actin regulator 1 (PHACTR1) to the risk of developing CAD in the Chinese Han population.MethodsA case–control study was conducted including 332 patients with CAD and 119 controls. Genotype analysis was performed by PCR and Sanger sequencing. Genetic model analysis was performed to evaluate the association between single nucleotide polymorphisms and CAD susceptibility using Pearson’s χ2 test and logistic regression analysis.ResultsThe GG genotype of rs9349379 represented 50% and 29% of patients with CAD and controls, respectively (p<0.001). The CC genotype of rs2026458 was more prevalent in the controls than in patients with CAD compared with TT genotype (OR=0.548, 95% CI 0.351 to 0.856, p=0.008). Logistic regression analyses revealed that PHACTR1 rs9349379 GG genotype was significantly associated with increased risk of CAD in the recessive model (OR=2.359, 95% CI 1.442 to 3.862, p=0.001), even after adjusting for age gender, hypertension, type 2 diabetes, hyperlipidaemia and smoking habit. Heterogeneity test proved that rs9349379’s risk effects on CAD were more significant among women.ConclusionsOur study indicate that the PHACTR1 rs9349379 polymorphism is associated with the increased risk for CAD in the female Chinese Han population.

scholarly journals Sequence Variants ofADIPOQand Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Ming-Kai Tsai ◽  
Hui-Min David Wang ◽  
Jeng-Chuan Shiang ◽  
I-Hung Chen ◽  
Chih-Chiang Wang ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Large Scale ◽  
Association Studies ◽  
Chinese Han Population ◽  
Genome Wide Association Studies ◽  
Chinese Han ◽  
Han Population

Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM), including adiponectin (ADIPOQ) gene and transcription factor 7-like 2 (TCF7L2), but few studies clarified the effect of genetic polymorphisms ofADIPOQandTCF7L2on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs) inADIPOQandTCF7L2genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. Statistical analysis gauged association of these polymorphisms with risk of T2DM to showADIPOQrs1501299 polymorphism variations strongly correlated with T2DM risk(P=0.042), with rs2241766 polymorphism being not associated with T2DM(P=0.967). However, both polymorphisms rs7903146 and rs12255372 ofTCF7L2were rarely detected in Taiwanese people. This study avers thatADIPOQrs1501299 polymorphism contributes to risk of T2DM in the Taiwanese population.

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.

scholarly journals Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population

2019 ◽  
Vol 44 (4) ◽  
pp. 810-822
Author(s):  
Gang Jin ◽  
Yan Liang ◽  
Xiaohui Yan ◽  
Linping Zhang ◽  
Zhenjiang Li ◽  
...  
Keyword(s):  
Association Studies ◽  
Immunoglobulin A ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Background/Aims: The association between ACYP2(Acylphosphatase 2) polymorphisms and immunoglobulin A nephropathy (IgAN) risk in the Chinese Han population remains unclear. We aimed to evaluate the association between ACYP2 polymorphisms and IgAN risk by performing a case-control study. Methods: Eleven ACYP2 single nucleotide polymorphisms (SNPs) from 416 IgAN patients and 495 healthy controls were genotyped using the Sequenom MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated to evaluate the association of ACYP2 polymorphisms with IgAN risk. Results: We observed that rs843720 was significantly associated with an increased risk of IgAN (allele G: OR = 1.23, 95% CI: 1.01–1.49, p = 0.036; dominant model: OR = 1.55, 95% CI: 1.01–2.37, p =0.044; log-additive model: OR = 1.43, 95% CI: 1.04–1.95, p = 0.026) before Bonferroni correction. The SNP rs12615793 was also significantly associated with an increased IgAN risk in the recessive model (OR = 3.33, 95% CI: 1.05–10.51, p = 0.042) before Bonferroni correction. Conclusion: These findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN. However, more functional and association studies with larger sample sizes should be performed to further validate our results in the future.

scholarly journals Single nucleotide polymorphism within gene in NFKBIA is associated with the risks of nasopharyngeal carcinoma in Chinese Han population.

2019 ◽  
Vol 5 (suppl) ◽  
pp. 67-67
Author(s):  
Hanyi Zhang ◽  
Shun Lu ◽  
Chang Sun ◽  
Siyao Deng ◽  
Jin Yi Lang
Keyword(s):  
Nasopharyngeal Carcinoma ◽  
Association Studies ◽  
Sample Size Calculation ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Significance Level ◽  
Genotype Frequencies ◽  
Increased Risk

67 Background: Nasopharyngeal Carcinoma(NPC) is an Epstein-Barr virus(EBV) associated malignancy with remarkable ethnic and geographical distribution. The EBV oncoprotein latent membrane protein 1 (LMP1) is the primary oncogene of EBV infection through the its signaling cascade and its connections to other pathways including NF-κB, TGF-β and JNK signaling, which plays an important role in the pathogenesis of NPC. In GWASs (Genome-wide association studies) associations these pathways were also identified. Single nucleotide polymorphisms (SNPs) in the regulatory regions may regulate the expression of genes in these pathways, or affect the function of the coded protein. Methods: Altogether 149 SNPs were covered by the 15 SNPs in the TRAF2, TRAF3, NFKBIA, MAP2K4, and CHUK genes were genotyped in a hospital-based case-control study of 350 NPC cases and 587 healthy controls from the Chinese Han. The observed genotype frequencies in the controls were tested for Hardy–Weinberg equilibrium (HWE) using the chi-square test. Odds ratios (ORs) and 95% confidence intervals (95% CIs) for associations between genotypes and NPC risk and tumor characteristics were calculated by logistic regression, and they were adjusted for multiple testing using the SNP spectral deposition (SNPSpD) approach for multilocus analyses. Results: We found one NFKBIA SNP was associated with NPC risk after adjustment for multiple comparisons. Minor allele carriers of the NFKBIA had an increased risk of NPC (P 0.05). The analyses were adjusted for age and gender. For a polymorphism with a variant allele frequency between 10 %and 50%, the study had greater than 90% power to detect an OR of 1.50 at a significance level of 0.05 (PS—software for power and sample size calculation, http://biostat.mc.vanderbilt.edu/twiki/bin/view/Main/PowerSampleSize). The other genotyped SNPs that we found were not associated with NPC risk. Conclusions: Our data suggests that genetic variation especially in the NFKBIA maybe a useful biomarker for NPC screening and further studies are warranted.

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