scholarly journals Association Analysis of COQ2 Variant in Dementia and Essential Tremor

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Yin Xia Chao ◽  
Ebonne Yu Lin Ng ◽  
Huihua Li ◽  
Kandiah Nagaendran ◽  
Yuen Yih ◽  
...  

Objective. COQ2 mutations have been reported in Japanese multiple system atrophy (MSA) patients. We examined the role of COQ2 in patients with dementia and essential tremor (ET), two common neurodegenerative conditions.Materials & Methods. A total of 2064 subjects, including 560 patients with dementia, 466 patients with ET, and 1038 healthy controls, were included. Genotyping for the COQ2 V393A (T>C) was carried out. Odds ratio (OR) adjusted by age and gender, together with 95% confidence interval (CI), was reported by means of logistic regression.Results. The frequency of the polymorphic variant V393A heterozygous (T/C) was 2.7% in dementia, 1.1% in ET, and 2.5% in controls (OR = 0.70, 95% confidence interval is 0.29–1.72 for dementia, and OR = 0.47, 95% confidence interval is 0.17–1.31,p=0.1217for ET). There was no significant association between V393A variant with dementia and ET.Conclusion. There was no significant association between V393A variant with dementia and ET. COQ2 gene is unlikely to play a significant role in patients with dementia or ET in our population.

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052097911
Author(s):  
Shulong Zhang ◽  
Xiaoting Wang

Objective The association of the IL-17A rs2275913 polymorphism with the risk of colorectal cancer (CRC) has been previously reported. However, the results are inconsistent. In this study, we comprehensively assessed the effect of the rs2275913 polymorphism on CRC risk. Methods The rs2275913 polymorphism of 208 CRC patients and 312 age- and gender-matched healthy controls was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method, and then analyzed by logistic regression. In addition, a pooled analysis based on five single-center studies was performed using Stata 12.0 software. Results Logistic regression analysis indicated that the IL-17A rs2275913 polymorphism was associated with CRC risk (GA vs. GG: OR = 1.53, 95% CI = 1.02–2.28; AA vs. GG: OR = 1.89, 95% CI = 1.11–3.20; GA+AA vs. GG: OR = 1.62, 95% CI = 1.11–2.37; A vs. G: OR = 1.38, 95% CI = 1.07–1.77). Further pooled analysis also indicated a statistically significant association between the rs2275913 polymorphism and CRC risk in Asians and Northern Africans. Conclusion This study suggested that the IL-17A rs2275913 polymorphism may act as a biomarker for predicting CRC risk. However, further functional research should be performed to clarify the role of the rs2275913 polymorphism in the etiology of CRC.


2013 ◽  
Vol 30 (3) ◽  
pp. 199-209
Author(s):  
Begüm Serim-Yıldız ◽  
Özgür Erdur-Baker ◽  
Aslı Bugay

The present study aimed to investigate the common fears and their origins among children and adolescents from different age, gender, and socioeconomic levels (SES). The sample was comprised of 642 females (48.8%) and 673 males (51.2%) with a total of 1,315 participants aged between 8 and 18 (M = 13.15; SD = 3.18). The Fear interview was utilised to examine the common fears and the role of conditioning, modelling and negative information in the development of children's fears. The result showed that the most common fear in Turkey was ‘God’, followed by ‘losing my friends’ and ‘going to Hell’. In addition, the findings revealed that Turkish students are more likely to learn fears by modelling rather than negative information transmission and conditioning. The results also indicated that negative information transmission had a more intensifying effect on the children and adolescents’ existing fear rather than modelling and conditioning. Furthermore, multinomial logistic regression was conducted to examine the effects of age, gender and SES on the origins of fear. Results showed that age and gender were significant predictors of origins of fear.


2013 ◽  
Vol 19 (13) ◽  
pp. 1696-1703 ◽  
Author(s):  
Jian Huang ◽  
Satoshi Yoshimura ◽  
Noriko Isobe ◽  
Takuya Matsushita ◽  
Tomomi Yonekawa ◽  
...  

Background: The G allele of NOTCH4 rs422951 is protective against demyelinating disease in Japanese. Objectives: The purpose of this study was to assess the relation of the G allele to neuromyelitis optica (NMO)/NMO spectrum disorder (NMOSD) and multiple sclerosis (MS) and the interaction between the G allele and HLA-DRB1 alleles, and to clarify any association of the G allele with clinical features. Methods: DNA sequencing was used to genotype 106 NMO/NMOSD patients, 118 MS patients and 152 healthy controls (HCs) for rs422951. Results: G allele frequency in MS patients, but not that in NMO/NMOSD patients, was lower than that in HCs (8.9% vs 21.7%, p<0.0001, odds ratio (OR)=0.35). HLA-DRB1*0405 was positively associated with MS (OR=2.22, pcorr=0.0380) while DRB1*0901 was negatively associated (OR=0.32, pcorr =0.0114). Logistic regression analyses revealed that, after adjusting for gender and either HLA-DRB1*0405 or DRB1*0901, rs422951 was associated with MS in the dominant model (OR=0.37, 95% confidence interval (CI)= 0.20–0.66, p=0.0012). Haplotype analyses identified two susceptible and three resistant haplotypes formed from rs422951 and either HLA-DRB1*0405 or DRB1*0901. There were no statistically significant differences in clinical features between G allele carriers and non-G allele carriers. Conclusion: This NOTCH4 missense mutation decreased the risk for developing MS in Japanese, but did not affect clinical features of those who had already developed the disease.


2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Zhouping Wang ◽  
Yufen Xu ◽  
Huazhong Zhou ◽  
Yanfei Wang ◽  
Wei Li ◽  
...  

Children with Kawasaki disease (KD) resistant to intravenous immunoglobulin (IVIG) have a higher incidence of coronary artery lesions (CAL). Despite the association between Purinergic receptor P2Y12 (P2RY12) polymorphism, KD genetic susceptibility, and CAL complications being proved, few studies have assessed the relationship between P2RY12 polymorphisms and IVIG resistance in patients with KD. We recruited 148 KD patients with IVIG resistance and 611 with IVIG sensitivity and selected five P2RY12 polymorphisms: rs9859538, rs1491974, rs7637803, rs6809699, and rs2046934. A significant difference in the genotype distributions between patients was only observed for the rs6809699 A > C polymorphism (AC vs. AA: adjusted odds ratio (OR) = 0.48, 95% confidence interval (CI) = 0.27–0.84, P=0.011; AC/CC vs. AA: adjusted OR = 0.47, 95% CI = 0.27–0.83, P=0.0084). After adjusting for age and gender, the carriers of the rs6809699 C allele had OR of 0.44 to 0.49 for IVIG sensitivity (AC vs. AA: adjusted OR = 0.48, 95% confidence interval (CI) = 0.27–0.84, P=0.011; AC/CC vs. AA: adjusted OR = 0.47, 95% CI = 0.27–0.83, P=0.0084) compared to the carriers of a rs6809699 AA genotype, suggesting the protective effect of this SNP against IVIG resistance. Moreover, individuals with all five protective polymorphisms experienced a significantly decreased IVIG resistance compared to that of individuals with up to three protective polymorphisms (adjusted OR = 0.27, 95% CI = 0.13–0.57, P=0.0006). Our results suggest that the P2RY12 rs6809699 polymorphism could be used as a biomarker to predict IVIG resistance in KD patients.


2020 ◽  
Author(s):  
Ting Yu ◽  
Fanyu Meng ◽  
Minning Xie ◽  
Huajiang Liu ◽  
Lei Zhang ◽  
...  

Background: Ulcerative colitis (UC) is an inflammatory bowel disease characterized by chronic inflammation of the colon. It has been reported that PMS2L2 plays protective roles in inflammatory injury. This study aimed to investigate the role of lncRNA PMS2L2 in UC. Methods: 62 patients with UC as well as 62 age- and gender- matched healthy controls were enrolled. Expressions of PMS2L2 and miR-24 in plasma from UC patients and healthy controls were determined by RT-qPCR. The interaction between PMS2L2 and miR-24 was predicted by bioinformatics and confirmed by RNA immunoprecipitation (RIP) and RNA pull-down. The role of PMS2L2 in the regulation of miR-24 gene methylation was analyzed by methylation-specific PCR (MSP). The effects of PMS2L2 and miR-24 on the expressions of apoptosis-related proteins were detected by western blots. Results: PMS2L2 was downregulated in the plasma of UC patients compared to that in age- and gender- matched healthy control. In HCnEpCs, PMS2L2 overexpression inhibited miR-24 expression via promoting the methylation of miR-24 gene. In contrast, miR-24 overexpression failed to affect PMS2L2. In the detection of cell apoptosis, PMS2L2 overexpression could promote the expression of Bcl-2 and inhibit Bax, cleaved-caspase-3 and cleaved-caspase-9 expressions stimulated by LPS. Flow cytometer revealed that PMS2L2 elevation suppressed the apoptosis of HCnEpCs induced by LPS, but miR-24 aggravated the apoptosis. PMS2L2 overexpression rescued the detrimental effect of miR-24 on cell apoptosis. Conclusion: PMS2L2 may downregulate miR-24 via methylation to suppress cell apoptosis in UC.


2000 ◽  
Author(s):  
Erika Felix ◽  
Anjali T. Naik-Polan ◽  
Christine Sloss ◽  
Lashaunda Poindexter ◽  
Karen S. Budd

Author(s):  
Émilie Perez

The role of children in Merovingian society has long been downplayed, and the study of their graves and bones has long been neglected. However, during the past fifteen years, archaeologists have shown growing interest in the place of children in Merovingian society. Nonetheless, this research has not been without challenges linked to the nature of the biological and material remains. Recent analysis of 315 children’s graves from four Merovingian cemeteries in northern Gaul (sixth to seventh centuries) allows us to understand the modalities of burial ritual for children. A new method for classifying children into social age groups shows that the type, quality, quantity, and diversity of grave goods were directly correlated with the age of the deceased. They increased from the age of eight and particularly around the time of puberty. This study discusses the role of age and gender in the construction and expression of social identity during childhood in the Merovingian period.


Author(s):  
Tjaša Filipčič ◽  
Špela Bogataj ◽  
Jernej Pajek ◽  
Maja Pajek

Hemodialysis (HD) patients have lower functional abilities compared to healthy people, and this is associated with lower physical activity in everyday life. This may affect their quality of life, but research on this topic is limited. Therefore, the present study aimed to determine the relationship between habitual physical activity and quality of life in HD patients and healthy controls. Ninety-three HD patients and 140 controls participated in the study. Quality of life was assessed using a 36-item medical outcomes study short-form health survey (SF-36). Human Activity Profile (HAP) was used to assess habitual physical activity. The adjusted activity score (AAS) from HAP, age, gender, fat tissue index (FTI), lean tissue index (LTI), and Davies comorbidity score were analyzed as possible predictors of the Physical Component Summary (PCS) of the SF-36. Three sequential linear models were used to model PCS. In Model 1, PCS was regressed by gender and age; in Model 2 the LTI, FTI, and Davies comorbidity scores were added. Model 3 also included AAS. After controlling for age and gender (ModelHD 1: p = 0.056), LTI, FTI, and Davies comorbidity score effects (ModelHD 2: p = 0.181), the AAS accounted for 32% of the variation in PCS of HD patients (ModelHD 3: p < 0.001). Consequently, the PCS of HD patients would increase by 0.431 points if the AAS increased by one point. However, in healthy controls, AAS had a lower impact than in the HD sample (B = 0.359 vs. 0.431), while the corresponding effects of age and gender (ModelH 1: p < 0.001), LTI, FTI, and Davies comorbidity score (ModelH 2: p < 0.001) were adjusted for. The proportion of variation in PCS attributed to AAS was 14.9% (ModelH 3: p < 0.001). The current study results showed that physical activity in everyday life as measured by the HAP questionnaire is associated to a higher degree with the quality of life of HD patients than in healthy subjects. Routine physical activity programs are therefore highly justified, and the nephrology community should play a leading role in this effort.


2019 ◽  
Vol 63 (4) ◽  
pp. 689-712
Author(s):  
K. Rothermich ◽  
O. Caivano ◽  
L.J. Knoll ◽  
V. Talwar

Interpreting other people’s intentions during communication represents a remarkable challenge for children. Although many studies have examined children’s understanding of, for example, sarcasm, less is known about their interpretation. Using realistic audiovisual scenes, we invited 124 children between 8 and 12 years old to watch video clips of young adults using different speaker intentions. After watching each video clip, children answered questions about the characters and their beliefs, and the perceived friendliness of the speaker. Children’s responses reveal age and gender differences in the ability to interpret speaker belief and social intentions, especially for scenarios conveying teasing and prosocial lies. We found that the ability to infer speaker belief of prosocial lies and to interpret social intentions increases with age. Our results suggest that children at the age of 8 years already show adult-like abilities to understand literal statements, whereas the ability to infer specific social intentions, such as teasing and prosocial lies, is still developing between the age of 8 and 12 years. Moreover, girls performed better in classifying prosocial lies and sarcasm as insincere than boys. The outcomes expand our understanding of how children observe speaker intentions and suggest further research into the development of teasing and prosocial lie interpretation.


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