scholarly journals miR-938 rs2505901 T>C polymorphism increases Hirschsprung disease risk: a case–control study of Chinese children

2021 ◽  
Author(s):  
Jun Zhong ◽  
Jiabin Liu ◽  
Yi Zheng ◽  
Xiaoli Xie ◽  
Qiuming He ◽  
...  
Keyword(s):  
Chinese Population ◽  
Case Control Study ◽  
Disease Risk ◽  
Hirschsprung Disease ◽  
Case Control ◽  
Chinese Children ◽  
Odds Ratios ◽  
Short Segment ◽  
Control Study ◽  
Genotype A

Aim: To explore the association between  miR-938 rs2505901 T>C polymorphism and Hirschsprung disease (HSCR) risk in Chinese children. Materials & Methods: We conducted a case–control study in a Chinese population with 1381 cases and 1457 controls. The associated correlation strengths were assessed by adjusted odds ratios (AORs) and 95% CIs. Results: The results revealed that the rs2505901 TC and rs2505901 TC/CC genotype were related to increased HSCR risk compared to the risk contributed by the rs2505901 TT genotype. A stratification analysis showed that the rs2505901 TC/CC genotype promoted the progression of HSCR more significantly in patients with the short-segment HSCR subtype. Conclusion: Our study indicated that  miR-938 rs2505901 T>C polymorphism is significantly associated with HSCR risk in Chinese children. This result needs to be confirmed with well-designed studies.

scholarly journals Correlation between matrix metalloproteinase-2 polymorphisms and first and recurrent atherosclerotic ischemic stroke events: a case–control study

2021 ◽  
Vol 49 (6) ◽  
pp. 030006052110229
Author(s):  
Ying Li ◽  
Qing-rong Ouyang ◽  
Juan Li ◽  
Xiao-rong Chen ◽  
Lin-lin Li ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Matrix Metalloproteinase ◽  
Chinese Population ◽  
Case Control Study ◽  
Case Control ◽  
Matrix Metalloproteinase 2 ◽  
Odds Ratios ◽  
Control Study

Objective To determine the associations between matrix metalloproteinase-2 (MMP-2, encoded by the MMP2 gene) 1306C/T and 735C/T polymorphisms and first and recurrent ischemic stroke in a Chinese population. Methods Patients with first and recurrent ischemic stroke were included. Serum MMP-2 was measured, and MMP2 1306C/T and 735C/T polymorphisms were detected. The associations between MMP2 1306C/T and 735C/T polymorphisms and first and recurrent ischemic stroke were analyzed. Results Serum MMP-2 in patients with first and recurrent ischemic stroke was significantly higher compared with controls, and patients with recurrent ischemic stroke had higher MMP-2 than those with first ischemic stroke. The frequency of the CC genotype and C allele of MMP2 735C/T was highest in patients with recurrent ischemic stroke, followed by patients with first ischemic stroke, and controls. Conversely, the genotype and allele of MMP2 1306C/T did not significantly differ between groups. The CC genotype of MMP2 735C/T was independently associated with first and recurrent ischemic stroke (odds ratios = 1.45 and 1.64, respectively), as was the C allele of MMP2 735C/T (odds ratios = 1.68 and 1.77, respectively). Conclusions The CC genotype and C allele of MMP2 735C/T were associated with first and recurrent ischemic stroke in a Chinese population.

scholarly journals Association study between genetic variants and the risk of schizophrenia in the Chinese population based on GWAS-implicated 6p21.3–23.1 human genome region: a case-control study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Gangqin Li ◽  
Jie Dai ◽  
Hao Liu ◽  
Yushan Lin ◽  
Qiaoni Liu ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Chinese Population ◽  
Protective Factor ◽  
Case Control Study ◽  
Genetic Model ◽  
Disease Risk ◽  
Case Control ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Control Study

Abstract Background Schizophrenia is a polygenic disease; however, the specific risk genetic variants of schizophrenia are still largely unknown. Single nucleotide polymorphism (SNP) is important genetic factor for the susceptibility of schizophrenia. Investigating individual candidate gene contributing to disease risk remains important. Methods In a case-control study, five SNPs located in 6p21.3-p23.1 including rs2021722 in human leukocyte antigen (HLA) locus and rs107822, rs383711, rs439205 and rs421446 within the upstream of microRNA-219a-1 were genotyped in 454 schizophrenia patients and 445 healthy controls to investigate the possible association between the loci and schizophrenia in a Han Chinese population. Results Our results showed significant associations between the rs2021722 and schizophrenia in allele (A vs. G: adjusted OR = 1.661, 95%CI = 1.196–2.308), co-dominant (AG vs. GG: OR = 1.760, 95%CI = 1.234–2.510) and dominant genetic model (AG + AA vs. GG: OR = 1.756, 95%CI = 1.237–2.492), respectively. Haplotype analysis showed that TGGT and CAAC were protective factor for schizophrenia compared with TAAC haplotype (OR = 0.324, 95% CI = 0.157–0.672; OR = 0.423, 95% CI = 0.199–0.900). Conclusions These findings indicate that rs2021722 in HLA locus might be involved in pathogenesis of schizophrenia and that genotypes AG and allele A of the locus are risk factors for schizophrenia in the Han Chinese population, confirming the association between immune system and schizophrenia.

scholarly journals Human AGT -p.Met268Thr and coronary heart disease risk: a case-control study and meta-analysis

2018 ◽  
Vol 20 (1) ◽  
pp. 17-24
Author(s):  
Hanieh Mohammadi ◽  
Narges Razavi ◽  
Ali Abbasi ◽  
Faezeh Babaei ◽  
Ensiyeh Seyedrezazadeh ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Coronary Heart Disease Risk ◽  
Case Control Study ◽  
Disease Risk ◽  
Meta Analysis ◽  
Case Control ◽  
Heart Disease Risk ◽  
Control Study

scholarly journals OPN gene locus is associated with the risk of knee osteoarthritis: a case–control study

2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Houlai Shang ◽  
Yuedong Hao ◽  
Wenhao Hu ◽  
Xiaohui Hu ◽  
Qing Jin
Keyword(s):  
Knee Osteoarthritis ◽  
Chinese Population ◽  
Gene Locus ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Case Control ◽  
Chinese Han ◽  
Knee Oa ◽  
Pcr Rflp ◽  
Control Study

AbstractBackground/aims: Studies have demonstrated that osteopontin (OPN) was associated with the severity and development of knee osteoarthritis (OA). Methods: The purpose of this case–control study was to investigate the association between OPN gene rs11730582 polymorphism and knee OA risk in a Chinese population. Genotyping was analyzed using standard PCR and restriction fragment length polymorphism (PCR-RFLP). Results: The present study found that C allele or CC genotype of OPN gene rs11730582 polymorphism was related to decreased risk for knee OA. Furthermore, positive associations were obtained amongst the females, and body mass index (BMI) < 25 kg/m2 groups. Conclusions: To sum up, the present study reveals that OPN gene rs11730582 polymorphism decreases the risk of knee OA in Chinese Han population.

scholarly journals Environmental asbestos exposure and clustering of malignant mesothelioma in community: a spatial analysis in a population-based case–control study

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
C. Airoldi ◽  
C. Magnani ◽  
F. Lazzarato ◽  
D. Mirabelli ◽  
S. Tunesi ◽  
...  
Keyword(s):  
Spatial Variation ◽  
Malignant Mesothelioma ◽  
Case Control Study ◽  
Disease Risk ◽  
Population Based ◽  
Case Control ◽  
Contour Plot ◽  
Increased Risk ◽  
The Impact ◽  
Control Study

Abstract Background Neighborhood exposure to asbestos increases the risk of developing malignant mesothelioma (MM) in residents who live near asbestos mines and asbestos product plants. The area of Casale Monferrato (Northwest Italy) was impacted by several sources of asbestos environmental pollution, due to the presence of the largest Italian asbestos cement (AC) plant. In the present study, we examined the spatial variation of MM risk in an area with high levels of asbestos pollution and secondly, and we explored the pattern of clustering. Methods A population-based case–control study conducted between 2001 and 2006 included 200 cases and 348 controls. Demographic and occupational data along with residential information were recorded. Bivariate Kernel density estimation was used to map spatial variation in disease risk while an adjusted logistic model was applied to estimate the impact of residential distance from the AC plant. Kulldorf test and Cuzick Edward test were then performed. Results One hundred ninety-six cases and 322 controls were included in the analyses. The contour plot of the cases to controls ratio showed a well-defined peak of MM incidence near the AC factory, and the risk decreased monotonically in all directions when large bandwidths were used. However, considering narrower smoothing parameters, several peaks of increased risk were reported. A constant trend of decreasing OR with increasing distance was observed, with estimates of 10.9 (95% CI 5.32–22.38) and 10.48 (95%CI 4.54–24.2) for 0–5 km and 5–10 km, respectively (reference > 15 km). Finally, a significant (p < 0.0001) excess of cases near the pollution source was identified and cases are spatially clustered relative to the controls until 13 nearest neighbors. Conclusions In this study, we found an increasing pattern of mesothelioma risk in the area around a big AC factory and we detected secondary clusters of cases due to local exposure points, possibly associated to the use of asbestos materials.

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