scholarly journals OPG/RANKL/RANK gene methylation among alcohol-induced femoral head necrosis in northern Chinese men

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tiantian Wang ◽  
Fei Wang ◽  
Tingting Liu ◽  
Menghu Sun ◽  
Feimeng An ◽  
...  

Abstract Background and purpose Alcohol-induced osteonecrosis of the femoral head (ONFH) is a complex and heterogeneous disease. Genetic factors and epigenetic modifications are one of the pathogenesis of the disease. However, the influence of epigenetic factors on the disease has not been systematically studied. Our research aims to determine the methylation changes of alcohol-induced ONFH. Methods An analytical cross-sectional study of a Chinese male population (50 alcohol-induced ONFH patients and 50 controls). The EpiTYPER of the Sequenom MassARRAY platform was used to detect the DNA methylation status of 132 cytosine-phosphate-guanine (CpG) sites in the OPG/RANKL/RANK gene promoter region. Results In the whole study group, the chi-square test was used to analyze the methylation rate between the two groups, and six CpG sites were found to be different, among which OPG1_CpG_2, OPG3_CpG_4, RANK1_CpG_6, RANK3_CpG_10, RANKL2_CpG_21, and RANKL2_CpG_46 in the case group were higher than those in the control group, while OPG4_CpG_2 was lower than that in the control group. The results showed that in patients with alcohol-induced ONFH, 146 CpG sites were examined for differences in methylation levels compared with healthy controls, 32 of which were not detected, and 23 of the remaining 114 sites showed differences in methylation levels compared with alcohol-induced ONFH patients. Receiver operator characteristic (ROC) curve analysis demonstrated the methylation levels of OPG/RANKL/RANK could efficiently predict the existence of alcohol-induced ONFH. Conclusion Our study of Chinese men suggests that several CpG sites in the OPG/RANKL/RANK gene in peripheral blood leukocytes of patients with alcohol-induced ONFH are in an abnormal methylation state (hypermethylation tended to be more frequent).

2021 ◽  
Author(s):  
Tiantian Wang ◽  
Fei Wang ◽  
Tingting Liu ◽  
Menghu Sun ◽  
Feimeng An ◽  
...  

Abstract Background and purpose: Alcohol-induced osteonecrosis of the femoral head (ONFH) is a complex and heterogeneous disease. Genetic factors and epigenetic modifications are one of the pathogenesis of the disease. However, the influence of epigenetic factors on the disease has not been systematically studied. Our research aims to determine the methylation changes of alcohol-induced ONFH.Methods:An analytical cross-sectional study of a Chinese male population (50 lung cancer patients and 50 controls). The EpiTYPER of the Sequenom MassARRAY platform was used to detect the DNA methylation status of 132 Cytosine-phosphate-Guanine (CpG) sites in the OPG/RANKL/RANK gene promoter region.Results: In the whole study group,Chi-square test was used to analyze the methylation rate between the two groups, and six CpG sites were found to be different, among which OPG1_CpG_2, OPG3_CpG_4, RANK1_CpG_6, RANK3_CpG_10, RANKL2_CpG_21, and RANKL2_CpG_46 in the case group were higher than those in the control group, while OPG4_CpG_2 was lower than that in the control group. Our results showed that 146 CpG sites were measured, of which 32 were undetectable, and of the remaining 114 methylation sites, methylation levels were different in 23 CpG sites in patients with alcohol-induced ONFH compared to healthy controls. Receiver operator characteristic (ROC) curve analysis demonstrated the methylation levels of OPG/RANKL/RANK could efficiently predict the existence of alcohol-induced ONFH.Conclusion: Our study of Chinese men suggests that several CpG sites in the OPG/RANKL/RANK gene in peripheral blood leukocytes of patients with alcohol-induced ONFH are in abnormal methylation state(hypermethylation tended to be more frequent).


2020 ◽  
Vol 17 (2) ◽  
pp. 2-6
Author(s):  
Piush Kanodia ◽  
Sudesh Shrestha ◽  
Santosh Gautam ◽  
Sachin Chawla

Background: The enzymes CK-MB & LDH are used as potential predictors of timing and grade of HIE in newborns with perinatal asphyxia. Objectives: To differentiate HIE neonates from non-HIE ones on the basis of significant rise of LDH & CK-MB. Methodology: Prospective cross-sectional analytical study. Among 164 newborns, 82 comprising the cases and 82 neonates comprising the controls met the inclusion and exclusion criteria. The umbilical cord blood samples for CK-MB and LDH was drawn and sent for analysis. A serum CK-MB value >92.6 U/L and LDH value >580 U/L was taken as the cut-off level. Descriptive statistical analyses were done to find the significance between two groups. ROC Curve analysis was performed to find the diagnostic performance of CK-MB and LDH. Results: Out of total 164 neonates studied, 18.3% had moderate HIE & 11%had severe HIE while 56.1%had No HIE. Seventy-two newborns were found to have LDH levels >580 U/L out of which 71 were in case group and 1 was in control group. Among the 164 neonates studied, 7.9% from case group were found to have CK-MB levels >92.6 U/L. Both the results of LDH & CK-MB levels were very significant with P value <0.001. Area under ROC (Receiving operating Characteristic) value of LDH when compared to CK-MB is (0.978 vs. 0.731). Conclusion: Estimation of CK-MB and LDH enzymes can help to distinguish asphyxiated from non-asphyxiated term neonates when correlating with their history and clinical features.


2018 ◽  
pp. 59-66
Author(s):  
Thanh Tin Nguyen ◽  
Phan Minh Triet Le ◽  
Viet Nhan Nguyen ◽  
Cristina Giuliani ◽  
Donata Luiselli ◽  
...  

Introduction: Agent Orange was the most extensively used among herbicides sprayed on Vietnam territory during the Vietnam War. Its by-product, 2,3,7,8-tetrachlorodibenzo-paradioxin (Dioxin), is an extremely toxic and persistent chemical. The effects of this spraying on both Vietnamese and United States Veterans health has been reported in many publications. However, there wasn’t any study of the effects at the molecular level of the residual Dioxin in the environment on present Vietnamese civilians living in contaminated areas. Objective: To investigate the association between residual Agent Orange/Dioxin in the environment and the alterations of DNA methylation in the peripheral blood of the present day Vietnamese population living in spraying areas. Methods: Cross-sectional study. The subjects were 188 individuals who came to Hue University Hospital for health care: 94 individuals for case group from sprayed areas (A Luoi and Nam Dong, Thua Thien Hue Province), and 94 individuals for the control group from non-sprayed areas (Quang Binh to North Vietnam). MALDI-TOF MS technique was used to detect the alterations of DNA methylation of CYP1A1 gene. Results: Among 22 CpG position of CYP1A1 gene were investigated, there were the DNA hypomethylation at CpG_2.3.4, CpG_5, CpG_12.13 in case group compared to the control (p<0.05). After dividing case group into 2 subgroups, we found the significant DNA hypomethylation at CpG_2.3.4, CpG_5, CpG_9, CpG_10, CpG_11, CpG_12.13, CpG_17, CpG_18.19 in subgroup CASES_F_P compared to CASES_NON_F_P also control group (p< 0.05). Conclusions: Individuals living in A Luoi and Nam Dong– the Dioxin contaminated areas– had DNA hypomethylation in CYP1A1 gene. The DNA hypomethylation seem not due to the effects of residual Dioxin in the environment in present day, it was likely to be inherited by epigenetic way from the DNA methylation alterations on their parents who had directly exposure to that spraying. This theory should be verified through extensive studies with CASES_F_P family and more genes will be investigated. Key words: Agent Orange, Dioxin, DNA methylation, CYP1A1


Author(s):  
Mai Mahmoud Shaker ◽  
Taghreed Abdelmoniem shalabi ◽  
Khalda said Amr

Abstract Background DNA methylation is an epigenetic process for modifying transcription factors in various genes. Methylenetetrahydrofolate reductase (MTHFR) stimulates synthesis of methyl radical in the homocysteine cycle and delivers methyl groups needed in DNA methylation. Furthermore, numerous studies have linked gene polymorphisms of this enzyme with a larger risk of recurrent pregnancy loss (RPL), yet scarce information is available concerning the association between epigenetic deviations in this gene and RPL. Hypermethylation at precise DNA sequences can function as biomarkers for a diversity of diseases. We aimed by this study to evaluate the methylation status of the promoter region of MTHFR gene in women with RPL compared to healthy fertile women. It is a case–control study. Hundred RPL patients and hundred healthy fertile women with no history of RPL as controls were recruited. MTHFR C677T was assessed by polymerase chain reaction-restriction fragment length polymorphism (RFLP). Quantitative evaluation of DNA methylation was performed by high-resolution melt analysis by real-time PCR. Results The median of percentage of MTHFR promoter methylation in RPL cases was 6.45 [0.74–100] vs. controls was 4.50 [0.60–91.7], P value < 0.001. In the case group, 57 hypermethylated and 43 normo-methylated among RPL patients vs. 40 hypermethylated and 60 normo-methylated among controls, P< 0.005. Frequency of T allele in C677T MTHFR gene among RPL patients was 29% vs. 23% among the control group; C allele vs. T allele: odds ratio (OR) = 1.367 (95% confidence interval (CI) 0.725–2.581). Conclusion Findings suggested a significant association between hypermethylation of the MTHFR promoter region in RPL patients compared to healthy fertile women.


Author(s):  
Suchithra Erath Thadathil ◽  
Jaya Koothupalakkal Viswambharan ◽  
Alok Kanjhoor Premdas ◽  
Ashwin Raj

Background: Air pollution leads to several health effects, the major systems affected were respiratory, dermatology, neurology and ophthalmology. This study is an attempt to find out various health effects of pollution, from a food factory to the nearby residents.Methods: A cross sectional comparative study was performed on 248 residents nearby a food factory, situated in rural area of Thrissur district and a comparative group of 266 participants taken 5km away from this factory.Results: Both the groups were comparable in socio-demographic profile except religion and occupation. There was no statistically significant difference (p>0.05) between the use of firewood in both the groups. The symptoms of major systems involved were respiratory (odds ratio 3.9, 95% CI 2.2 to 6.8), dermatological (odds ratio 18.3, 95% CI 8.3 to 40.7), neurological (odds ratio 13.5, 95% CI 4.1 to 44.7) and ophthalmological (odds ratio 5.9, 95% CI 2.6 to 13.6). The major symptoms complained by them were pruritus (32.7%), skin lesions (17.7%), breathlessness (16.9%), itching eye (13.3%) watering from eye (11.7%) and headache (11.3%). All these symptoms among the case group compared to control group were very high and these associations were highly statistically significant (p<0.001).Conclusions: This study showed an increased occurrence of adverse health effects among the individuals who were residing near the food factory. Therefore this study points out the possibility of environmental pollution (mainly air pollution) as a main factor for the increased prevalence of symptoms among those who reside nearby the factory.


2019 ◽  
Vol 09 (01) ◽  
pp. e24-e28
Author(s):  
Hadi Sudarjat ◽  
Mally Sholih ◽  
Ahsanal Kasasiah

AbstractSome children fail to develop language skills for obvious reasons. The inability is usually seen due to difficulties in producing and understanding spoken language, lack of intelligence, or other developmental disorders. This usually causes difficulties in reading and writing; in many cases, language difficulties continue until adolescence. This research was conducted from May to June 2018 at Dewi Sri Karawang Hospital and in the Karawang community. This study aims to determine the correlation between factors such as family history, child's gender, febrile seizures, exposure to TV/gadget, and mother's occupation, with children developmental dysphasia in Karawang. This study uses an analytical survey method with a cross-sectional approach. Data retrieval was performed by interviewing parents of pediatric patients diagnosed with dysphasia as the case group and parents of children in the Karawang area as the control group. The data obtained were processed using the multivariate regression statistical method. The results showed that heat seizures, excessive multimedia exposure (more than 1 hour per day), and identified hereditary causes were significant risk factors for dysphasia in children aged 1 to 6 years in Karawang, with p-values less than 0.05.


Author(s):  
Manoel Itaguacy Leite NOVAIS JUNIOR ◽  
Manuella Santos Carneiro ALMEIDA ◽  
Camila Helena Machado da COSTA ◽  
Tassia Cristina de Almeida Pinto SARMENTO ◽  
Luis Ferreira de SOUSA FILHO ◽  
...  

ABSTRACT Objective: Evaluating the development of the permanent cuspids in children from Paraíba with cleft lip and palate applying the Nolla and the Demirjian methods. Methods: A cross-sectional study using an inductive approach and applying a comparative statistical procedure and direct documentation research technique. The universe of the study consisted of children assisted at the orthodontic practice of the Brazilian Association of Dentistry - Paraíba Section. The sample comprised 72 pairs of panoramic radiographs of children with and without cleft lip and palate from the same gender and, age difference of up to 30 days, ranging from 5 to 13 years of age. The study has evaluated the development of 576 cuspids. The images were evaluated by three duly calibrated examiners concomitantly, and the calcification stages were determined by a consensus. The stages of the cuspids calcification were evaluated in the panoramic radiographs according to Nolla and Demirjian classifications. Results: The average of the calcification stage of teeth was correspondingly higher in the control group than in the case group, showing a development delay of the cuspid teeth in the cleft lip and palate patients. The lower cuspids were significantly more developed than the upper cuspids (p <0.001). There were no significant differences between the sides. There was early tooth development in females but without significant difference. Conclusion: It was possible to note that patients with cleft lip and palate presented a delay in the development of the permanent cuspids when compared to non-cleft lip and palate patients, thus, reinforcing the importance of the individualization of the orthodontic planning.


2007 ◽  
Vol 17 (3) ◽  
pp. 131-136 ◽  
Author(s):  
B. Halle ◽  
D.M. Halle ◽  
T. Torfing ◽  
S. Overgaard

We studied the role of acetabulum geometry and head neck ratio in the development of osteoarthritis of the hip in young men. Contrary to previous studies we evaluated the significance of the anterior, posterior and total coverage of the femoral head, the influence of the femoral neck and the consequence of acetabular retroversion on standardized x-rays. Men aged 26–55 years who earlier had a total hip arthroplasty were included in the case group. This group was compared to a control-group of men treated as trauma patients. The study indicates that acetabular dysplasia and retroversion and a relative decreased head neck ratio are associated with osteoarthritis of the hip in young men.


Author(s):  
Lei Zhao ◽  
Xiaosheng Chen ◽  
Shengjun Zhou ◽  
Zhiqing Lin ◽  
Xi Yu ◽  
...  

Genetic factors play an important role in the pathogenesis of ischemic stroke. Of these, epigenetic modifications provide a new direction for the study of ischemic stroke pathogenesis. This study aimed to determine the correlation between DNA methylation of the gene encoding S-adenosylhomocysteine hydrolase (AHCY) and the risk of ischemic stroke in 64 ischemic stroke patients and 138 patients with traumatic brain injury (control group). The methylation level of AHCY was analyzed using quantitative methylation-specific polymerase chain reaction. Statistically significant differences in AHCY methylation levels were observed between the case group [medians (interquartile range): 0.13% (0.09%, 0.27%)] and the control group [0.06% (0.00%, 0.17%), p < 0.0001], and these associations remained significant in both male (p = 0.003) and female (p = 0.0005) subjects. A subgroup analysis by age revealed a considerably higher percentage of methylated AHCY in the case group than the control group in all age groups (age < 60 years, p = 0.007; age ≥ 60 years, p < 0.0001). A receiver operating characteristic (ROC) curve analysis revealed a trend toward a role for AHCY methylation as an indicator of risk in all ischemic patients [area under the curve (AUC) = 0.70, p = 0.0001], male patients (AUC = 0.67, p = 0.004), and female patients (AUC = 0.75, p = 0.0002). Our study confirmed a significant association between the AHCY DNA methylation level and the risk of ischemic stroke, suggesting that this gene methylation pattern may be a potential diagnostic marker of ischemic stroke.


2020 ◽  
Author(s):  
Rasmus Klose-Jensen ◽  
Andreas Wiggers Nielsen ◽  
Louise Brøndt Hartlev ◽  
Jesper Skovhus Thomasen ◽  
Lene Warner Thorup Boel ◽  
...  

Abstract Objective The objective of this cross-sectional case-control study was to determine the prevalence and size of marginal and subarticular osteophytes in patients with osteoarthritis (OA), and to compare these to that of a control group. Design We investigated femoral heads from 25 patients with OA following hip replacement surgery, and 25 femoral heads from a control group obtained post-mortem . The area and boundary length of the femoral head, marginal osteophytes, and subarticular osteophytes were determined with histomorphometry. Marginal osteophytes were defined histologically as bony projections at the peripheral margin of the femoral head, while subarticular osteophytes were defined as areas of bone that expanded from the normal curvature of the femoral head into the articular cartilage. Results The prevalence of OA patients with marginal- and subarticular osteophytes were 100% and 84%, respectively. Whereas the prevalence of the participants in the control group with marginal- and subarticular osteophytes were 56% and 28%, respectively. The area and boundary length of marginal osteophytes was (median (Interquartile range)) 165.3mm 2 (121.4 – 254.0) mm 2 and 75.1 mm (50.8 – 99.3) mm for patients with OA compared to 0 mm 2 (0 – 0.5) mm 2 and 0 mm (0 – 0.5) mm for the control group (P < 0.001). For the subarticular osteophytes, the area and boundary length was 1.0 mm 2 (0 – 4.4) mm 2 and 1.4 mm (0 – 6.5) mm for patients with OA compared to 0 mm 2 (0 – 0.5) mm 2 and 0 mm (0 – 0.5) mm for the control group (P < 0.001). Conclusion As expected, both marginal- and subarticular osteophytes at the femoral head, were more frequent and larger in patients with OA than in the control group. However, in the control group, subarticular osteophytes were more prevalent than expected from the minor osteophytic changes at the femoral head margin, which may suggest that subarticular osteophytes are an early degenerative phenomenon that ultimately might develop into clinical osteoarthritis.


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