scholarly journals Polymorphisms in Lysyl Oxidase Family Genes Are Associated With Intracranial Aneurysm Susceptibility in a Chinese Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Chun Luo ◽  
Chongyu Hu ◽  
Bingyang Li ◽  
Junyu Liu ◽  
Liming Hu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Case Control Study ◽  
Lysyl Oxidase ◽  
Binary Logistic Regression ◽  
Binary Logistic Regression Analysis ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Physiological Mechanisms ◽  
Single Nucleotide ◽  
Control Study

PurposeIntracranial aneurysms (IA) comprise a multifactorial disease with unclear physiological mechanisms. The lysyl oxidase (LOX) family genes (LOX, LOX–like 1–4) plays important roles in extracellular matrix (ECM) reconstruction and has been investigated in terms of susceptibility to IA in a few populations. We aimed to determine whether polymorphisms in LOX family genes are associated with susceptibility to IA in a Chinese population.MethodsThis case-control study included 384 patients with IA and 384 healthy individuals without IA (controls). We genotyped 27 single nucleotide polymorphisms (SNPs) of LOX family genes using the Sequenom MassARRAY® platform. These SNPs were adjusted for known risk factors and then, odds ratios (OR) and 95% confidence intervals (CI) were evaluated using binary logistic regression analysis.ResultsThe result showed that LOX rs10519694 was associated with the risk of IA in recessive (OR, 3.88; 95% CI, 1.12–13.47) and additive (OR, 1.56; 95%CI, 1.05–2.34) models. Stratified analyses illustrated that LOX rs10519694 was associated with the risk of single IA in the recessive (OR, 3.95; 95%CI, 1.04–15.11) and additive (OR, 1.64; 95%CI, 1.04–2.56) models. The LOXL2 rs1010156 polymorphism was associated with multiple IA in the dominant model (OR, 1.92; 95%CI, 1.02–3.62). No associations were observed between SNPs of LOXL1, LOXL3, and LOXL4 and risk of IA.ConclusionLOX and LOXL2 polymorphisms were associated with risk of single IA and multiple IA in a Chinese population, suggesting potential roles of these genes in IA. The effects of these genes on IA require further investigation.

scholarly journals XPG rs873601 G>A contributes to uterine leiomyoma susceptibility in a Southern Chinese population

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Zhi-Qin Liu ◽  
Guan-Ge Chen ◽  
Ru-Liang Sun ◽  
Chao Chen ◽  
Mei-Yin Lu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Uterine Leiomyoma ◽  
Case Control Study ◽  
Genetic Model ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Southern Chinese ◽  
Stratified Analysis ◽  
Control Study

XPG gene contributes to DNA repair defects and genomic instability, which may lead to the initiation of uterine leiomyoma. We hypothesized that genetic variants of XPG gene may alter the carriers’ susceptibility to leiomyoma. The association between five potential functional single nucleotide polymorphisms (SNPs), i.e. rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C, rs873601 G>A, and uterine leiomyoma risk in Chinese, was investigated in this case–control study, which included 398 incident leiomyoma cases and 733 controls. We found that rs873601 was significantly associated with tumor risk in a recessive genetic model after being adjusting for age and menopause. When compared with rs873601 GG/GA genotypes, the AA genotype had an increased leiomyoma risk (adjusted OR = 1.59, 95% CI = 1.16–2.18, P=0.004; Bonferroni adjusted P=0.040). Furthermore, stratified analysis revealed that the association between the rs873601 AA genotype and leiomyoma risk was more evident among subjects younger than 40 years old (adjusted OR = 1.58, 95% CI = 1.06–2.35, P=0.023) and patients who had more than three myomas (adjusted OR = 2.05, 95% CI = 1.24–3.41, P=0.006). Yet, no significant association between the other four polymorphisms and leiomyoma risk was observed. To sum up, the present study reported on the association between XPG gene polymorphisms and myoma risk. The observed data indicated that SNP rs873601 G>A contributes to uterine leiomyoma susceptibility in a Southern Chinese population.

scholarly journals Association of genetic polymorphisms of SelS with Type 2 diabetes in a Chinese population

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Long Zhao ◽  
Ying-Ying Zheng ◽  
You Chen ◽  
Yi-Tong Ma ◽  
Yi-Ning Yang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Case Control Study ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
The Difference ◽  
The Relationship ◽  
Control Study

Background: Selenoprotein S (SelS) gene expression is positively correlated to triglyceride (TG) concentrations and is associated with diabetes in animal model. However, the relationship between genetic polymorphisms of SelS and Type 2 diabetes (T2DM) remains unclear. Methods: In the present study, we genotyped four single nucleotide polymorphisms (rs12910524, rs1384565, rs2101171, rs4965814) of SelS gene using TaqMan genotyping method in a case–control study (1947 T2DM patients and 1639 control subjects). Results: We found both rs1384565 CC genotype (12.1 compared with 6.6%, P<0.001) and C allele (35.2 compared with 24.4%, P<0.001) were more frequent in the T2DM patients than in the controls. Logistic regression analysis suggested after adjustment of other confounders, the difference remained significant between the two groups (CC compared with TT, P=0.002, OR = 1.884, 95% CI: 1.263–2.811; CT compared with TT, P<0.001, OR = 1.764, 95% CI: 1.412–2.204). Conclusion: The present study suggested that genetic polymorphisms of SelS were associated with T2DM in a Chinese population.

scholarly journals Impact of PD-1 gene polymorphism and its interaction with tea drinking on susceptibility to tuberculosis

2021 ◽  
Vol 149 ◽  
Author(s):  
Jing Wang ◽  
Mian Wang ◽  
Zihao Li ◽  
Xinyin Wu ◽  
Xian Zhang ◽  
...  
Keyword(s):  
Case Control Study ◽  
Preventive Measures ◽  
Nucleotide Polymorphisms ◽  
Unconditional Logistic Regression ◽  
Negative Interaction ◽  
Single Nucleotide ◽  
High Risk Populations ◽  
Tea Drinking ◽  
The Impact ◽  
Control Study

Abstract The aim of this study was to explore the impact of polymorphism of PD-1 gene and its interaction with tea drinking on susceptibility to tuberculosis (TB). A total of 503 patients with TB and 494 controls were enrolled in this case–control study. Three single-nucleotide polymorphisms of PD-1 (rs7568402, rs2227982 and rs36084323) were genotyped and unconditional logistic regression analysis was used to identify the association between PD-1 polymorphism and TB, while marginal structural linear odds models were used to estimate the interactions. Genotypes GA (OR 1.434), AA (OR 1.891) and GA + AA (OR 1.493) at rs7568402 were more prevalent in the TB patients than in the controls (P < 0.05). The relative excess risk of interaction (RERI) between rs7568402 of PD-1 genes and tea drinking was −0.3856 (95% confidence interval −0.7920 to −0.0209, P < 0.05), which showed a negative interaction. However, the RERIs between tea drinking and both rs2227982 and rs36084323 of PD-1 genes were not statistically significant. Our data demonstrate that rs7568402 of PD-1 genes was associated with susceptibility to TB, and there was a significant negative interaction between rs7568402 and tea drinking. Therefore, preventive measures through promoting the consumption of tea should be emphasised in the high-risk populations.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

scholarly journals Association of miR-146a, miR-149 and miR-196a2 polymorphisms with neuroblastoma risk in Eastern Chinese population: a three-center case–control study

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Chunlei Zhou ◽  
Yingzi Tang ◽  
Jinhong Zhu ◽  
Lili He ◽  
Jinghang Li ◽  
...  
Keyword(s):  
Case Control Study ◽  
Cancer Susceptibility ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Ethnic Populations ◽  
Gender And Age ◽  
Sympathetic Nervous ◽  
Control Study ◽  
Common Malignancy

Abstract Neuroblastoma is one of the most common malignancy in childhood, which originates from the developing sympathetic nervous system. Single nucleotide polymorphisms (SNPs) in primary miRNA (pri-miRNA) have shown to associate with cancer susceptibility, including neuroblastoma. Three precursor miRNA (pre-miRNA) SNPs (pre-miR-146a rs2910164, pre-miR-149 rs2292832 and pre-miR-196a2 rs11614913) were found to contribute to pathogenesis of various diseases. Here, to evaluate the association among these three pre-miRNA SNPs and neuroblastoma susceptibility in Eastern Chinese children, we carried out a three-center case–control study involving 312 neuroblastoma cases and 762 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association of these three polymorphisms with neuroblastoma risk. However, no significant association was observed among these three SNPs and neuroblastoma susceptibility, in either overall or subgroups analysis by tumor sites, gender and age. Further larger studies consisting of diverse ethnic populations are required to clarify the associations among these three pre-miRNAs polymorphisms and neuroblastoma risk.

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