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 ◽  
...  

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.

2021 ◽  
Author(s):  
Xu Chao ◽  
Jieqiong Wu ◽  
Wei Zhang ◽  
Xuesong Feng ◽  
Luyan Zhao ◽  
...  

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.


Oncotarget ◽  
2016 ◽  
Vol 7 (50) ◽  
pp. 83031-83039 ◽  
Author(s):  
Jie Gao ◽  
Linting Wei ◽  
Jiali Wei ◽  
Ganglian Yao ◽  
Li Wang ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Pei Yu ◽  
Siyu Hao ◽  
Hewei Zheng ◽  
Xueying Zhao ◽  
Yuzhen Li

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.


2019 ◽  
Author(s):  
Ning Gao ◽  
Hong Tang ◽  
Ling Gao ◽  
Guolong Tu ◽  
Han Luo ◽  
...  

Abstract Background This study aimed to investigate the roles of CYP3A4 and CYP11A1 variants in ischemic stroke (IS) susceptibility among the Han Chinese population. Methods 477 patients with IS and 493 healthy controls were enrolled. Seven single-nucleotide polymorphisms (SNPs) of CYP3A4 and CYP11A1 were genotyped by Agena MassARRAY. Odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistic regression adjusted for age and gender. Results We found that CYP3A4 rs3735451 (OR = 0.81, p = 0.039) and rs4646440 (OR = 0.72, p = 0.021) polymorphisms decreased the risk of IS. CYP3A4 rs4646440 (OR = 0.74, p = 0.038) and CYP11A1 rs12912592 (OR = 1.58, p = 0.034) polymorphisms were correlated with IS risk in males. CYP3A4 rs3735451 (OR = 0.63, p = 0.031) and rs4646440 (OR = 0.57, p = 0.012) possibly weaken the IS susceptibility at age > 61 years. Besides, CYP3A4 rs4646437 (OR = 0.59, p = 0.029), CYP11A1 rs12912592 (OR = 1.84, p = 0.017) and rs28681535 (OR = 0.66, p = 0.038) were associated with IS risk at age ≤ 61 years. CYP11A1 rs28681535 TT genotype was higher high-density lipoprotein cholesterol level than the GT and GG genotype (p = 0.027). Conclusions Our findings indicated that rs3735451, rs4646440, rs4646437 in CYP3A4 and rs28681535 in CYP11A1 might be protective factors for IS, while CYP11A1 rs12912592 polymorphism be a risk factor for IS in Chinese Han population.


2019 ◽  
Author(s):  
Ning Gao ◽  
Hong Tang ◽  
Ling Gao ◽  
Guolong Tu ◽  
Han Luo ◽  
...  

Abstract Background This study aimed to investigate the roles of CYP3A4 and CYP11A1 variants in ischemic stroke (IS) susceptibility among the Han Chinese population. Methods 477 patients with IS and 493 healthy controls were enrolled. Seven single-nucleotide polymorphisms (SNPs) of CYP3A4 and CYP11A1 were genotyped by Agena MassARRAY. Odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistic regression adjusted for age and gender. Results We found that CYP3A4 rs3735451 (OR = 0.81, p = 0.039) and rs4646440 (OR = 0.72, p = 0.021) polymorphisms decreased the risk of IS. CYP3A4 rs4646440 (OR = 0.74, p = 0.038) and CYP11A1 rs12912592 (OR = 1.58, p = 0.034) polymorphisms were correlated with IS risk in males. CYP3A4 rs3735451 (OR = 0.63, p = 0.031) and rs4646440 (OR = 0.57, p = 0.012) possibly weaken the IS susceptibility at age > 61 years. Besides, CYP3A4 rs4646437 (OR = 0.59, p = 0.029), CYP11A1 rs12912592 (OR = 1.84, p = 0.017) and rs28681535 (OR = 0.66, p = 0.038) were associated with IS risk at age ≤ 61 years. Haplotype analysis showed that CYP3A4 GT haplotype (rs4646440 and rs35564277) increased the susceptibility to IS (OR = 1.29, p = 0.033). CYP11A1 rs28681535 TT genotype was higher high-density lipoprotein cholesterol level than the GT and GG genotype (p = 0.027). Conclusions Our findings indicated that rs3735451, rs4646440, rs4646437 in CYP3A4 and rs28681535 in CYP11A1 might be protective factors for IS, while CYP11A1 rs12912592 polymorphism be a risk factor for IS in Chinese Han population.


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