scholarly journals MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xianglai Liu ◽  
Hailing Xie ◽  
Zejuan Fu ◽  
Qiankun Yao ◽  
Tianming Han ◽  
...  

Abstract Background Schizophrenia (SCZ) is a severe mental illness with high heritability. This study aimed to explore the correlation between MAD1L1, TSNARE polymorphisms and SCZ susceptibility. Methods A total of 493 SCZ patients and 493 healthy controls were included. The genotypes of MAD1L1 and TSNARE polymorphisms were identified by Agena MassARRAY platform. Odds ratio (OR) and 95% confidence intervals (CIs) were tested via logistic regression analysis in multiple genetic models and different subgroups. Results We observed that AG genotype of rs1107592, AG genotype of rs4976976, and CA genotype of rs67756423 decreased the susceptibility to SCZ (p < 0.05). Age stratification analysis showed that the TC genotype of rs12666575, AG genotype of rs1107592, and AG genotype of rs4976976 decreased the risk of SCZ individuals older than 36 years (p < 0.05). In addition, the AG and AA genotype of rs4976976, the CA genotype of rs67756423 were associated with a lower risk of SCZ in males (p < 0.05). In females, the TT genotype of rs12666575 in recessive model, the AG and AA-AG genotype of rs1107592 in heterozygote and dominant model, could reduce the susceptibility to SCZ (p < 0.05). However, no significant association was found after Bonferroni correction. Conclusions Our results suggest that MAD1L1 and TSNARE genetic polymorphisms exert a protective role in the risk of SCZ. These findings provide evidence that MAD1L1 and TSNARE may serve as potential biomarkers of SCZ. However, a replication experiment in a cohort with large sample size are required to confirm our findings. Trial registration Not applicable.


2009 ◽  
Vol 2009 ◽  
pp. 1-7 ◽  
Author(s):  
J. Armando Villamil ◽  
Carolyn J. Henry ◽  
Allen W. Hahn ◽  
Jeffrey N. Bryan ◽  
Jeff W. Tyler ◽  
...  

The Surveillance Epidemiology and End Results data demonstrate that the risk of non-Hodgkin lymphoma is lower for women, but that the incidence increases after fifty years of age, at which menopause is regularly reached, suggesting that female hormones may be protective for NHL. This study examines the influence of sex on lymphoma risk in a relevant large animal model. Records for dogs in the Veterinary Medical Database were analyzed from 1964 to 2002. Risk ratios were calculated to evaluate associations between sex, neutering status, and lymphoma occurrence. A total of 14,573 cases and 1,157,342 controls were identified. Intact females had a significantly lower risk of developing lymphoma, Odds Ratio 0.69 (0.63–0.74) with aP<.001. We conclude that there is a sex effect on NHL risk in dogs similar to humans. We hypothesize that the hormone levels of intact females lower the risk of NHL. The possibility of a protective role of endogenous estrogens in the etiology of NHL should be investigated.



2018 ◽  
Vol 46 (6) ◽  
pp. 2480-2486 ◽  
Author(s):  
Shangchao Zhang ◽  
Na Zhou ◽  
Rui Liu ◽  
Wenwang Rao ◽  
Mingjia Yang ◽  
...  

Background/Aims: Schizophrenia is a severe psychiatric disorder, and complement 3 (C3) is closely related to schizophrenia. We investigated the association between C3 polymorphisms and schizophrenia in a Northeast Han Chinese population. Methods: A total of 2240 Chinese people, consisting of 1086 patients with schizophrenia and 1154 healthy controls, were recruited for this study. Ten single nucleotide polymorphisms (SNPs; rs11569562, rs344555, rs2241393, rs2241392, rs11569514, rs445750, rs451760, rs11672613, rs2230205, and rs2250656) in C3 were selected and genotyped. Results: Genotype distribution analysis indicated that rs11569514 was significantly associated with schizophrenia. In the dominant model (AA vs. GG+GA genotypes), we found a significant protective effect for rs344555 against schizophrenia (odds ratio [OR]: 0.72, 95% confidence interval [CI]: 0.53–0.99, P = 0.04). In the codominant model (TT vs. AA), we found a significant risk effect for rs11569514 on schizophrenia (OR: 4.39, 95% CI: 2.06–9.37, P < 0.001). Haplotypes, including TG (rs11569562 and rs344555), TGG (rs11569562-rs344555-rs2241393), AG (rs344555-rs2241393), CGGGT (rs11569562-rs344555-rs2241393-rs2241392-rs11569514), and ACGTG (rs11569514-rs445750-rs451760-rs11672613-rs2230205), showed either a risk or protective role for schizophrenia. Conclusions: SNP rs11569514 in C3 and haplotypes of C3 variants were associated with schizophrenia in a Han Chinese population.



2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Ting Tian ◽  
Peng Huang ◽  
Jingjing Wu ◽  
Chunhui Wang ◽  
Haozhi Fan ◽  
...  

Abstract Background CD40, encoded by TNFRSF5, participates in the survival of B cells, process of antigen presentation and generation of CD8+ T cell memory. It also has an important effect on HCV antiviral immune response. This study aims to investigate whether TNFRSF5 gene polymorphisms are associated with HCV infection outcomes among Chinese population. Methods Three single nucleotide polymorphism (SNPs) (rs1535045, rs1883832, rs4810485) on TNFRSF5 were genotyped by TaqMan assay among Chinese population, including 1513 uninfected subjects, 496 spontaneous viral clearance subjects and 768 persistent HCV-infected subjects. Logistic analysis was used to compare these SNPs among different groups in this cross-sectional study. Functional annotations of the identified SNPs were further evaluated by bioinformatics analysis. Results After adjusted by age, gender and routes of infection, the results of logistic analysis indicated that individuals carrying rs1535045 T allele had a higher risk to infect HCV compared with C allele (in recessive model, adjusted OR = 1.368, 95%CI = 1.070-1.749, P = 0.012). Subjects carried rs1535045 TT genotype were more likely to infect HCV than wild CC genotype (adjusted OR = 1.397, 95%CI = 1.078-1.809, P = 0.011). For rs1883832, T allele was significantly associated with an increased risk of HCV infection (in recessive model, adjusted OR = 1.337, 95%CI = 1.069-1.673, P = 0.011). Subjects with TT genotype had more possibility to infect HCV (adjusted OR = 1.351, 95%CI = 1.060-1.702, P = 0.015). In the stratified analysis, rs1535045 and rs1883832 were remained in various subgroups and the heterogeneity test showed no pronounced heterogeneity in any pairwise comparison (all P > 0.05). In addition, the results of the cumulative effects showed a tendency of that the more risk alleles (rs1535045 T and rs1883832 T) subjects carried, the more possibility of HCV infection exhibited (P<0.001). In haplotype analyses, compared with the CC haplotype, CT, TC and TT was correlated with an increased risk to infect HCV (P = 0.029, P = 0.047 and P<0.001, respectively). Conclusions In conclusion, CD40 polymorphisms were significantly associated with the susceptibility to HCV among Chinese populations.



2019 ◽  
Vol 44 (4) ◽  
pp. 810-822
Author(s):  
Gang Jin ◽  
Yan Liang ◽  
Xiaohui Yan ◽  
Linping Zhang ◽  
Zhenjiang Li ◽  
...  

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.



2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Amarnath Mullapudi ◽  
Kapil Gudala ◽  
Chandra Sekhar Boya ◽  
Dipika Bansal

Background. Antihypertensive agents have been shown to inhibit oxidative stress and inflammatory response and thus neuroprotection in Parkinson’s disease (PD). Epidemiological evidence suggests inconsistency between use of antihypertensives and risk of PD. This study is aimed to examine the association between antihypertensive use and risk of PD. Methods. Literature search in PubMed, EMBASE, and PsycINFO database was undertaken through February 2012 looking for observational studies evaluating the association between antihypertensive drug use and risk of PD. Before meta-analysis, the studies were evaluated for publication bias and heterogeneity. Pooled relative risk (RR) estimates and 95% confidence intervals (CIs) were calculated using random-effects model (DerSimonian and Laird method). Subgroup analyses and sensitivity analysis were also performed. Results. Seven relevant studies including a total of 28,32,991 subjects were included. Pooled RR of overall use of antihypertensive agents was found to be 0.95 (95% CI 0.84–1.05). A significant reduction in the risk of PD was observed among users of calcium channel blockers (RR 0.82, 95% CI 0.71–0.93). Significant heterogeneity (I2 = 76.2%) but no publication bias was observed. Conclusions. Overall use of antihypertensive agents showed no significant association with the risk of PD. CCBs provided significant protective role. However, studies with large sample size and dose relationships are required to strengthen our hypothesis.



2021 ◽  
Vol 9 ◽  
Author(s):  
Menghua Wang ◽  
Zhongyu Jian ◽  
Xiaoshuai Gao ◽  
Chi Yuan ◽  
Xi Jin ◽  
...  

Background: The impact of educational attainment (EA) on multiple urological and reproductive health outcomes has been explored in observational studies. Here we used Mendelian randomization (MR) to investigate whether EA has causal effects on 14 urological and reproductive health outcomes.Methods: We obtained summary statistics for EA and 14 urological and reproductive health outcomes from genome-wide association studies (GWAS). MR analyses were applied to explore the potential causal association between EA and them. Inverse variance weighted was the primary analytical method.Results: Genetically predicted one standard deviation (SD) increase in EA was causally associated with a higher risk of prostate cancer [odds ratio (OR) 1.14, 95% confidence interval (CI) 1.05–1.25, P = 0.003] and a reduced risk of kidney stone (OR 0.73, 95% CI 0.62–0.87, P &lt; 0.001) and cystitis (OR 0.76, 95% CI 0.67–0.86, P &lt; 0.001) after Bonferroni correction. EA was also suggestively correlated with a lower risk of prostatitis (OR 0.76, 95% CI 0.59–0.98, P = 0.037) and incontinence (OR 0.64, 95% CI 0.47–0.87, P = 0.004). For the bioavailable testosterone levels and infertility, sex-specific associations were observed, with genetically determined increased EA being related to higher levels of testosterone in men (β 0.07, 95% CI 0.04–0.10, P &lt; 0.001), lower levels of testosterone in women (β −0.13, 95% CI−0.16 to−0.11, P &lt; 0.001), and a lower risk of infertility in women (OR 0.74, 95% CI 0.64–0.86, P &lt; 0.001) but was not related to male infertility (OR 0.79, 95% CI 0.52–1.20, P = 0.269) after Bonferroni correction. For bladder cancer, kidney cancer, testicular cancer, benign prostatic hyperplasia, and erectile dysfunction, no causal effects were observed.Conclusions: EA plays a vital role in urological diseases, especially in non-oncological outcomes and reproductive health. These findings should be verified in further studies when GWAS data are sufficient.



2020 ◽  
Author(s):  
Aazam ahmadi Vasmehjani ◽  
Zahra Darabi ◽  
azadeh Nadjarzadeh ◽  
masoud Mirzaei ◽  
Mahdieh Hosseinzadeh

Abstract Background: Phytochemicals are natural non-nutritive bioactive compounds in plant foods. There is growing agreement that plant foods-based phytochemicals have a protective role against chronic diseases. The purpose of current study was to appraise Dietary Phytochemical Index (DPI) with the risk of metabolic syndrome (MetS) and its components.Methods: This study was conducted on 2326 participants (1097 men and 1220 women), aged 20-70 years of the recruitment phase of Yazd Health Study (YaHS), a population-based cohort study on Iranian adults. Dietary intake was prepared using a validated and reliable food frequency questionnaire. DPI is calculated based on dietary energy derived from phytochemical-rich food sources (kcal)/ total daily energy intake (kcal). The odds ratio of MetS and its components were assessed across DPI quartiles by binary logistic regression models.Results: After adjustment for all potential confounders, the risk of MetS (OR=0.63, 95% CI=0.41-0.96, P=0.03) and elevated blood pressure (OR=0.62, 95% CI=0.40-0.96, P=0.03) in second category of DPI compared to the first significantly decreased. After full adjustment for confounders, women in the highest quartile of DPI compared with the lowest, had 59% lower risk of MetS (OR=0.41, 95% CI=0.22-0.76, P=0.005). In second quartiles of DPI, the risk of MetS decreased by 62% (OR=0.38, 95% CI=0.16-0.90, P=0.02) in participants with normal BMI and 29% in subjects with high BMI (OR=0.71, 95% CI=0.52-0.99, P=0.04), and also 57% in men (OR=0.43, 95%CI=0.23-0.83, P=0.01). Independent of variables including age, sex and total energy intake, subjects in second and fourth quartiles of DPI had 30% and 25% lower risk of abdominal obesity, respectively.Conclusions: Greater adherence to phytochemical-rich diet could reduce odds of MetS and some components especially in women. Further studies with intervention approaches are required to discover causal relations and relevant underlying mechanisms.



1991 ◽  
Vol 34 (4) ◽  
pp. 427-445 ◽  
Author(s):  
Frank Trovato

This analysis extends earlier research concerning the protective role of marriage in people's lives. An important aspect of this general phenomenon pertains to the differential protection marriage engenders for the sexes. It is hypothesized that being married as opposed to unmarried entails a lower risk of suicide, and that marital status transitions from an unmarried state (e.g., single, widowed, divorced) to the married state entail a greater benefit for men than for women. This hypothesis is largely supported by an analysis of Canadian data covering four decades (from 1951 to 1981). Using a standardization procedure, it was discovered that a transition from single or widowed to married would entail a greater reduction in suicide risk for men than for women. In the case of a transition from divorced to married status, both sexes would benefit equally in reducing suicide potential. The analysis further demonstrates only weak support for the thesis that over time there would be a convergence in sex differences in the potential protective significance of marriage in reducing suicide risk.



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