Variants of D9N, G188A, N291S, and 93 T/G Genes in patients with Coronary Artery Diseases

2021 ◽  
Vol 8 (12) ◽  
pp. 698-705
Author(s):  
Mohamed S Daoud

Objective: Our work aimed to study the relationship between LPL variants D9N, G188A, N291S, and 93 T/G genes and CAD in Saudi patients. Materials and Methods: We recruited 253 CAD patients, who underwent diagnostic coronary angiography, and 207 control subjects. Several biochemical and behavioral markers were obtained, and different genotypes of LPL variants, D9N, G188E, N291S, and 93 T/G, were detected using The PCR-RFLP method. Results: The current study found D9N genotypes, AA, AG, and GG in 71.14%, 23.72%, and 5.14% in CAD patients, respectively. the AA, AG, and GG control genotypes were found in 81.64%, 16.43%, and 1.93%, respectively. The OR of the D9N AA versus AG genotype with a 95% CI was determined to be 1.65 (1.04–2.65), (p = 0.035). The OR of the D9N AA versus AG + GG genotype with a 95% CI was 1.80 (1.16–2.81), (p = 0.009). A strong relation of the D9N AA was observed with CAD. For the G188E, N291S, 93T/G variants insignificant were observed in both CAD and control groups. Conclusion: This study revealed the D9N variant has an association with CAD; however, no relation was detected between CAD and G188E, N291S, and 93T/G variants in the Saudi patients.

Author(s):  
Mirosław Śnit ◽  
Maciej Misiołek ◽  
Wojciech Ścierski ◽  
Anna Koniewska ◽  
Grażyna Stryjewska-Makuch ◽  
...  

AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk. PATIENTS AND METHODS: This study including 267 patients with histologically confirmed laryngeal cancer and 157 controls. The relationship between genetic variations DIAPH2 (rs6620138), PTPRD (rs3765142) and HIC1 (rs9901806) and the onset of laryngeal cancer were investigated. Statistical analysis to calculate the relationship between DIAPH2, PTPRD and HIC1 genes polymorphism and pathogenesis of laryngeal cancer. RESULTS: The results showed that rs6620138 DIAPH2 polymorphism could increase the onset risk of laryngeal cancer. Statistically significant differences in allele distribution of rs6620138 DIAPH2 and rs9901806 HIC1 in the case and control groups subgroups. CONCLUSIONS: This study results suggested that genetic variation of rs6620138 DIAPH2 polymorphism is related to the susceptibility to laryngeal cancer. Our results provide a basis to begin basic research on the role of DIAPH2 gene in the pathogenesis of laryngeal cancer.


Author(s):  
Sahel Soodi ◽  
Seyed Ali Keshavarz ◽  
Sedighe Hosseini ◽  
Behnood Abbasi

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder among women of reproductive age and is affected by various dietary factors. Therefore, this study aimed to investigate the relationship between dietary diversity score (DDS) and the risk of PCOS. Our case-control study was conducted in the summer and autumn of 2019 in Taleghani and Arash hospitals in Tehran, Iran. A total of 494 participants (203 cases and 291 controls) were included in the study. Thereafter, their demographic information, dietary intake, and anthropometric and physical activity assessments were gathered. A validated semi-quantitative food frequency questionnaire was then used to calculate the DDS by scoring 5 food groups. To evaluate the risk of PCOS in association with DDS, the subjects were categorized based on the quartile cut-off points of the DDS. The mean ± SD age of the participants in both the case and control groups was 28.98 ± 5.43 and 30.15 ± 6.21 years, while mean ± SD body mass index was 25.74 ± 5.44 and 23.65 ± 3.90 kg/m2, respectively. The comparison between the case and control groups indicated that total DDS was 5.19 ± 1.19 for the cases and 5.51 ± 1.19 for the controls. The comparison of DDS in the highest versus the lowest quartiles showed a decreased risk of PCOS (p < 0.05). We demonstrated an inverse association between DDS and PCOS compared with the control group. Furthermore, a higher DDS was significantly associated with a lower risk of PCOS (odds ratio = 0.40). Novelty: This is the first investigation on the relationship between DDS and PCOS. Results depicted an inverse relationship between DDS and PCOS.


2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Saba Mohammadi ◽  
Safar Farajnia ◽  
Masoud Shadmand ◽  
Fatemeh Mohseni ◽  
Roghayyeh Baghban

Abstract Objective GCK rs780094 polymorphism is a single nucleotide polymorphism that has been associated with obesity, type II diabetes and dyslipidemia in some populations, conditions that highly related to NAFL etiology. The present study aimed to evaluate the relationship between NAFLD and rs780094 polymorphism in patients with NAFLD in Tabriz city, northwest of Iran. The rs780094 polymorphism was determined in 74 patients with NAFLD by PCR–RFLP technique. Demographic information was collected using a questionnaire and biochemical analysis was performed using standard laboratory methods. Results There was a significant difference between case and control subjects for alanine aminotransferase, aspartate aminotransferase, HDL-C and triglycerides (P < 0.05). Analysis by PCR–RFLP method revealed that there were no significant differences between NAFLD and healthy subjects for rs780094 polymorphism in the study population. The results of this study indicated that rs780094 polymorphism is not associated with NAFLD in subjects from Tabriz city.


Author(s):  
Erdal Kurnaz ◽  
Yaşar Şen ◽  
Süleyman Aydın

AbstractBackground:The aim of this study was to determine the serum levels of kisspeptin and ghrelin (GAH), as well as the relationship of these two peptides with each other in premature thelarche (PT) and premature adrenarche (PA) cases and to investigate the possibility of using these peptides as markers in the differentiation of puberty disorders.Methods:A PT group aged 1–8 years (n = 40), a PA group aged 1–9 years (n = 23, female/male = 20/3) and control groups consistent with each of the previous groups in terms of age and gender were created for the study. Kisspeptin and ghrelin levels were measured with ELISA methods from blood samples drawn while fasting in the morning.Results:When the PT group was compared with the controls, the plasma kisspeptin levels of the cases were significantly higher than the control group (165.47 ± 15.45 pmol/L, 96.82 ± 12.33 pmol/L, p = 0.005, respectively). Kisspeptin levels in the PA group did not show a difference with the control group (121.36 ± 17.99 pmol/L, 95.52 ± 11.54 pmol/L, p = 0.249, respectively). No significant difference could be found when GAH levels in the PT and PA groups were compared with controls. No significant correlation was found between kisspeptin and GAH levels in the PT and PA groups.Conclusions:Our results indicate that kisspeptin plays an important role in the PT, but GAH is not associated with puberty disorders.


2006 ◽  
Vol 291 (2) ◽  
pp. R277-R284 ◽  
Author(s):  
Lin Chang ◽  
Emeran A. Mayer ◽  
Jennifer S. Labus ◽  
Max Schmulson ◽  
Oh Young Lee ◽  
...  

In irritable bowel syndrome (IBS) patients, the relationship between sex and sensitivity to visceral stimuli is incompletely understood. Our aim was to evaluate the effect of sex on perceptual responses to visceral stimulation in IBS. Fifty-eight IBS patients (mean age 42 ± 1 yr; 34 men, 24 women) and 26 healthy controls (mean age 38 ± 3 yr; 9 men, 17 women) underwent barostat-assisted distensions of the rectum and sigmoid colon. Rectal discomfort thresholds were measured using a randomized, phasic distension paradigm before and after repeated noxious sigmoid stimulation (SIG, 60-mmHg pulses). Sex had a significant effect on rectal discomfort thresholds. Women with IBS were the most sensitive (lower thresholds [27 ± 2.7 mmHg] and higher ratings), with significantly lower rectal discomfort thresholds compared with men with IBS (38 ± 2.3 mmHg) and healthy women who were the least sensitive (41.9 ± 3.2 mmHg; both P < 0.01). There were no significant differences in rectal discomfort thresholds between healthy men (34 ± 4.3 mmHg) and men with IBS. Across both IBS and control groups, women demonstrated a significant lowering of discomfort thresholds after noxious sigmoid stimulation ( P < 0.01), while men did not. Sex significantly influences perceptual sensitivity to rectosigmoid distension. Women show greater perceptual responses to this paradigm.


F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 254 ◽  
Author(s):  
Evy Eida Vitria ◽  
Iwan Tofani ◽  
Lindawati Kusdhany ◽  
Endang Winiati Bachtiar

Background: Paired-box gene 9 (PAX9) mutation is potentially associated with impaction in some patient populations. Here, we analyzed the relationship between PAX9 polymorphism and the occurrence of maxillary canine impaction. Methods: Patients with and without maxillary canine impaction were selected based on specific inclusion criteria, and samples of genomic DNA were obtained from a buccal mucosa swab. DNA was amplified by polymerase chain reaction and sequenced for further bioinformatics analysis to identify single nucleotide polymorphism (SNP) genotypes. Genotype and allele counting was performed in both case and control groups prior to conducting statistical analysis. Results: Four SNPs were identified in patients with maxillary canine impaction, with relative confidence determined based on chromatogram-peak assessment. All SNPs were located in exon 3 of PAX9 and in the region sequenced by the primer pair −197Fex3 and +28Rex3. Three of the SNPs (rs375436662, rs12881240, and rs4904210) were reported previously and are annotated in NCBI (dbSNP version 150), whereas another SNP mapped to chromosome 14 has not been reported. Patients with a CC genotype at SNP 3 [odds ratio (OR): 2.61 vs. TT; 1.28 vs. CT] and a CC genotype at SNP 4 [OR: 0.71 vs. GG; 0.79 vs. CG] were more likely to have maxillary canine impaction. Conclusions: These results demonstrated that the presence of SNPs 3 and 4 is associated with increased likelihood of suffering from maxillary canine impaction.


2022 ◽  
Vol 67 (4) ◽  
pp. 328-333
Author(s):  
Weiwei Li ◽  
Na Li ◽  
Guohai Yang ◽  
Yanhua Li

Fever is a common symptom of infection in children. Periodic fever syndromes are less common but more complex. One of these Periodic fever syndromes is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome which is known as the most benign syndromes. The cause of this disease is unknown. Various factors, including environmental and genetic factors, are involved in the development of this disease. In this study, the association of rs13075270 and rs13092160 polymorphisms were investigated in CCR1 and CCR3 genes with susceptibility to this syndrome in the Chinese population. In this regard, 38 patients with PFAPA syndrome and 100 healthy individuals were selected. After DNA sampling and extraction, polymorphisms of CCR1 and CCR3 receptor genes were examined by the PCR-RFLP method. Findings were analyzed using SPSS software version 22 with a significant level of P <0.05. The frequency of T/T genotype rs13092160 polymorphism in the patient and control groups was 78.95% and 83%, respectively, C/T genotype was 21.05% and 17% (P = 0.421). The frequency of the C/C genotype was 0 in both groups. Regarding rs13075270 polymorphism, the frequency of T/T genotype in patient and control groups was 15.79% and 81%, C/T genotype was 78.95% and 18% and C/C genotype was 5.26% and 1%, respectively (P<0.05). Thus, in rs13075270 polymorphism, the C/T genotype was associated with the risk of PFAPA syndrome (P<0.05), but rs13092160 polymorphism did not show a significant difference between individuals with PFAPA syndrome and controls.


2018 ◽  
Vol 5 (6) ◽  
pp. 1417
Author(s):  
Vadoud Norouzi ◽  
Mohammad Hasanpour ◽  
Sahar Khajavi

Background: Cardiovascular disease is one of the most common causes of mortality in developed countries, as well as in the whole world. In this regard, autologous transfusion is a topic that can be useful and valuable, especially in complex surgery such as heart surgery and organ transplantation. One of its variants is Acute Normovolomic Hemodilution (ANH). Therefore, the aim of this study was to compare the effect of ANH on the amount of bleeding in the first 48hours after coronary artery bypass grafting.Methods: In this clinical trial, 100 patients were selected from all heart patients referred to Imam Khomeini Hospital in Ardebil for CABG surgery in the years 2016-17. They were selected by simple random sampling as a statistical sample and They were divided into intervention (50 ANH recipients’ people) and control groups (50 without ANH people).Results: Based on the findings, in the ANH recipients’ group, the mean of bleeding volume was 59.1±7.3ml in the first day and 55.6±4.2ml in the control group and the difference between the two groups was not significant on the first day. The mean of bleeding volume on the second day was 46.1±2.8ml in the ANH group and 42.7±2.9ml in the control group. Although it was somewhat higher, it was not statistically significant. Of all samples 45% were female and 55% were male. The most common type of blood group was 33 (33%) in the blood group O. The highest age group (61%) was over the 60 years old. The pump time varied with an average of 122.2±21.5minutes. The lowest value was PT 11 and the highest was 15 with an average of 13.02±0.9seconds. The mean of PTT was 32.5±2.6seconds and the mean INR was 1.1±1.0. The average plt was 251170±64124. The mean ACT was 596 / 6±183/7seconds.Conclusions: The results showed that in the mean of bleeding volume between the intervention and control groups (p = 0.41), bleeding volume by age (p = 0.3), bleeding volume by gender (p =0.54) and bleeding volume by blood group (p=0.48) was not significant difference. Based on these results, it is suggested that more studies be done on the more number of samples.


2020 ◽  
Author(s):  
Mossad Ahmad Saif ◽  
Hamdan Ibrahim Al-Mohammad

Abstract Background Macrophages, within which Leishmania sp. replicate, generate large amounts of reactive oxygen species (ROS) and reactive nitrogen species (RNS) to kill these parasites. Methods The aim of the present study was to assess oxidative, nitrosative stresses, and some immune enzymes in blood of cutaneous leishmaniasis (CL) patients before and after treatment as well as in control individuals. Serum activities of superoxide dismutase (SOD), catalase (CAT), glutathione peroxidas (GSH-Px) and the levels of reduced glutathione, malondialdehyde (MAD) and nitric oxide (NO) as well as L-arginase, myeloperoxidase (MPO), adenosine deaminase (ADA) have been studied. Results The activities of the L-arginase, MPO and ADA, the levels of MDA and NO are significantly elevated (P < 0.001), while that of SOD, CAT, and GSH-Px, and GSH level were significantly (P < 0.001) reduced in untreated patients compared with the corresponding activities of the treated and control individuals. The treatment ameliorated these agents in comparison to the untreated group but there was still variations between the values of treated and control groups. Conclusion These results suggested that oxidative and nitrusative stress may play an important role in the pathogenesis of untreated cutaneous leishmaniasis


2019 ◽  
Vol 57 (2) ◽  
pp. 175-180
Author(s):  
Hüseyin Avni Findikli ◽  
Ayşe Şahin Tutak ◽  
Hakan Aydin

Abstract Introduction. Changes in thyroid hormone level can affect the cardiovascular system. The aim of this study was to show how the Tpeak -Tend (Tpe) interval, which is a new marker of ventricular arrythmia, is affected in patients who have become euthyroid following Levothyroxine treatment for hypothyroidism, as this has not been examined previously in literature. Materials and Methods. This, cross-sectional study included a total of 119 females aged 18-45 years, separated into 3 groups as hypothyroid, euthyroid and control groups. For evaluation of the QTc and Tpe intervals, examination on precordial V5 lead was made of all the ECGs taken routinely on presentation of the patients. Results. The Tpe and QTc intervals of the hypothyroid group were determined to be significantly prolonged compared to those of the euthyroid and control groups (p < 0.001) and the values of the euthyroid and control groups were similar. A positive correlation was determined between TSH levels and Tpe and QTc intervals. Tpe interval AUC = 0.801 (%95 CI: 0.719 – 0.884) was higher than that of QTc AUC = 0.689 (%95 CI: 0.591 – 0.786). Conclusions. The Tpe duration was evaluated in respect of the risk of arrythmia in hypothyroid patients. In patients who had become euthyroid, the Tpe interval was found to be similar to that of healthy individuals and was more predictive than QTc. In the light of these findings it can be recommended that measurement of the Tpe interval should be preferred to QTc as a marker of the arrythmogenic effect in hypothyroid patients.


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