Association between theNOTCH4gene rs3131296 polymorphism with schizophrenia risk in the Chinese Zhuang population and Chinese Han population

2014 ◽  
Vol 26 (4) ◽  
pp. 240-245 ◽  
Author(s):  
Li Su ◽  
Jianxiong Long ◽  
Baoyun Liang ◽  
Lian Gu ◽  
Runde Pan ◽  
...  

BackgroundSchizophrenia (SZ) is a common severe psychiatric disorder and a complex polygenic inherited disease that has not yet been fully interpreted. Heredity was proven to play an important role in the development of SZ. The association between theNOTCH4gene rs3131296 polymorphism and SZ was reported to reach significance at the genome-wide level; therefore, it is necessary to replicate this association in other different populations.MethodsTo evaluate the association of theNOTCH4gene rs3131296 polymorphism with the risk for SZ, and to explore whether a significant association could be replicated in different ethnic groups of China, we conducted this case–control study on 282 SZ cases (188 Han and 94 Zhuang) and 282 controls (188 Han and 94 Zhuang) among the Chinese Zhuang and Han populations.ResultsThe results showed no statistically significant difference in the genotype or allele frequencies of theNOTCH4gene variant rs3131296 between SZ patients and healthy controls in either the Zhuang or Han samples (p> 0.05). In addition, no significant difference was found in genotype or allele frequencies of theNOTCH4gene variant rs3131296 between cases and controls in the combined samples including Zhuang and Han samples.ConclusionsOur study failed to replicate the significant association between theNOTCH4gene rs3131296 polymorphism and the risk for SZ.

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Rui Geng ◽  
Yuansheng Xu ◽  
Wenhao Hu ◽  
Hui Zhao

Matrix metalloproteinase 1 (MMP-1) degrades cartilage, which may result in osteoarthritis (OA) development. Several studies have explored the association between MMP-1 gene rs1799750 polymorphism and OA in different populations. However, the results are inconsistent. The aim of this case–control study was to investigate the association between MMP-1 gene rs1799750 polymorphism and knee OA in a Chinese population. The present study included 308 cases and 404 controls. Genotyping was performed using standard polymerase chain reaction and restriction fragment length polymorphism. The present study found that 2G2G genotype (2G2G vs 1G1G: OR & 95% CI, 2.28 (1.47–3.53), P<0.001; 2G2G + 1G2G vs 1G1G: OR & 95% CI, 1.61 (1.15–2.24), P=0.005; 2G2G vs 1G2G + 1G1G: OR & 95% CI, 1.84 (1.26–2.68), P=0.002) or 2G allele carriers (2G vs 1G: OR & 95% CI, 1.48 (1.20–1.83), P<0.001) of MMP-1 gene rs1799750 polymorphism increased the risk of OA. In conclusion, this case–control study confirms that MMP-1 gene rs1799750 polymorphism increases the risk of knee OA in Chinese Han population.


2020 ◽  
Author(s):  
Xuyu Gu ◽  
Xiaoyan Wang ◽  
Huiwen Pan ◽  
Zhenjun Gao ◽  
Guowen Ding ◽  
...  

Abstract Objective: This study aimed to investigate the association between p73 C14T (rs1801173) polymorphism and the risk of GC in a Chinese Han population. Methods: A hospital-based case-control study was conducted. A total of 577 GC cases and 678 normal controls were recruited. Their genotypes were determined using the SnapShot method. Results: The genotype frequency distribution of the case group and the control group were consistent with the Hardy–Weinberg equilibrium. No significant difference was found in the distribution of gender, age, and drinking history between the case group and the control group. A correlation was observed between smoking and the incidence of GC (P = 0.006). Three genotypes of CC, CT, and TT were found in the rs1801173 locus of p73. The distribution of the dominant model/recessive model did not significantly differ (P = 0.688; 0.937). No statistical difference was found even after adjustment was performed via logistic regression analysis (P = 0.703; 0.990). The frequency distribution between the two groups also did not significantly differ (P = 0.763). Conclusion: Smoking is related to the occurrence and development of GC. No association was found between p73 rs1801173 C > T SNP and the risk of GC in a Chinese Han population. However, additional larger studies and tissue-specific biological characterization are required to confirm these findings.


Author(s):  
Zoran Z. Sarcevic ◽  
Andreja P. Tepavcevic

BACKGROUND: Subacromial pain (SAP) is a common complaint of young athletes, independently of the sport engaged. The prevalence of SAP in some sports is up to 50%. OBJECTIVE: The study was aimed to investigate some new factors possibly associated to subacromial pain in young athletes. The factors considered were the grade of tightness of the clavicular portion of the pectoralis major, dysfunction of the sternoclavicular joint, and serratus anterior and lower trapezius strength. METHODS: This case-control study included 82 young athletes 9–15 years, 41 with the symptoms of SAP and 41 controls. All participants self-reported whether they had subacromial pain. In addition, Hawkins–Kennedy Test was performed to all the participants to evaluate the subacromial pressure. Main outcome measures were the grade of tightness of the clavicular portion of the pectoralis major, dysfunction of the sternoclavicular joint, and serratus anterior and lower trapezius strength. The grade of tightness of the clavicular portion of the pectoralis major and the dysfunction of the sternoclavicular joint were measured with an inclinometer. Serratus anterior and lower trapezius strength were measured by a handheld dynamometer with external belt-fixation. The data were analyzed using t-test for independent samples, Mann-Whitney U test, contingency coefficients and a stepwise binary logistic regression. RESULTS: Significant statistical difference was observed in the grade of tightness of the clavicular portion of the pectoralis major and in the variable representing the physiological functioning of the sternoclavicular joint, between the cases and the controls. There was no significant difference in serratus anterior and lower trapezius strength between the cases and the controls. Logistic regression analysis showed that the variable representing the physiological functioning of the sternoclavicular joint and the grade of shortening of the clavicular portion of the pectoralis major were good predictors for presence of SAP. CONCLUSIONS: A strong association was determined between subacromial pain in young athletes, clavicular portion of pectoralis major tightness and the dysfunction of the sternoclavicular joint.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ming-Gui Wang ◽  
Jing Wang ◽  
Jian-Qing He

Abstract Background Previous studies have indicated that host genetic factors play an essential role in immunity to human immunodeficiency virus (HIV) infection. We aimed to investigate the association between the toll-interacting protein (TOLLIP) and mannose-binding lectin 2 (MBL2) genes and HIV infection susceptibility among Chinese Han patients. Methods This is a case-control study. A total of 435 HIV-infected patients and 1013 seronegative healthy individuals were recruited. DNA was extracted from whole blood. Two SNPs in the MBL2 gene (rs7096206 and rs1800450) and three SNPs in the TOLLIP gene (rs5743899, rs3750920, and rs5743867) were selected and genotyped using a SNPscan Kit (Cat#: G0104, Genesky Biotechnologies Inc., Shanghai, China). Odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated using unconditional binary logistic regression. Results A significant association between the minor alleles rs5743899 (C allele) and rs5743867 (G allele) in the TOLLIP gene and susceptibility to HIV infection was found in this study after adjusting for age and sex (Pa = 0.011 and < 0.001, respectively). The rs5743867 in the TOLLIP gene was significantly associated with the risk of HIV infection in dominant, recessive, and additive models when adjusted for age and sex (Pa < 0.05). No significant association was found between MBL2 gene polymorphisms and HIV infection. Conclusion Our study found a statistically significant association between the two SNPs (rs5743867 and rs5743899) in the TOLLIP gene and susceptibility to HIV infection in a Chinese Han population.


2015 ◽  
Vol 43 (6) ◽  
Author(s):  
Tanya Maric ◽  
Natasha Singh ◽  
Keith Duncan ◽  
Guy J. Thorpe-Beeston ◽  
Makrina D. Savvidou

AbstractTo investigate the relation between first-trimester fetal growth discrepancy, as assessed by crown-rump length (CRL) at 11+0 to 13+6 weeks of gestation, and subsequent development of preeclampsia (PE) in dichorionic diamniotic (DCDA) twin pregnancies. The association between inter-twin CRL and birth weight (BW) discrepancy was also investigated.This was a retrospective, case-control study of DCDA twin pregnancies. Inter-twin CRL discrepancy was calculated as 100×(larger CRL–smaller CRL)/larger CRL. BW discordance was calculated as 100×(larger BW–smaller BW)/larger BW.The study included 299 DCDA pregnancies that remained normotensive and 35 that subsequently developed PE. There was no significant difference in the inter-twin CRL discrepancy between pregnancies complicated by PE and those that were not [3.2%, interquartile range (IQR): 0.5–4.5% vs. 3.3%, IQR: 1.4–5.5%; P=0.17]. There was a positive correlation between inter-twin CRL and BW discrepancy but only in pregnancies that remained normotensive (P<0.001). In women that subsequently developed PE, there was no association between inter-twin CRL and BW discordance (P=0.54).In unselected DCDA twins, first-trimester CRL discrepancy is not different between pregnancies that subsequently develop PE and those that remain normotensive. Furthermore, in pregnancies that are complicated by PE, the association between inter-twin CRL and BW discrepancy appears to be lost.


2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Houlai Shang ◽  
Yuedong Hao ◽  
Wenhao Hu ◽  
Xiaohui Hu ◽  
Qing Jin

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.


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