Preliminary Case-control Study Research Articles

Association of polymorphisms within P2RX4 with type 2 diabetes mellitus: a preliminary case-control study

Objective Type 2 diabetes mellitus (T2DM) is a complex heterogenic metabolic with a wide range of etiology. Purinergic receptors have pivotal roles in different processes and are hypothesized to have roles in the pathogenesis of T2DM. Materials and Methods Three hundred subjects affected by T2DM and 300 healthy subjects were genotyped by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). SPSS V16.0 was recruited for statistical analysis. Results The findings showed that the G allele of rs25644A > G increases the risk of T2DM in our population statistically (OR = 1.51, 95% CI = 1.14–1.99, p = 0.003). This allele in some genotype models, including the dominant model, caused an increase in the risk of T2DM. The interaction of genotypes between studied variants in the P2XR4 gene increased the risk of T2DM. Haplotype analysis showed that Ars1169727/Grs25644 haplotype caused an increase in the risk of T2DM. Conclusions The findings suggest that rs25644A > G plays a role in our population’s increased risk of T2DM.

Plaque Ruptures Are Related to High Plaque Stress and Strain Conditions: Direct Verification by Using In Vivo OCT Rupture Data and FSI Models.

While it has been hypothesized that high plaque stress and strain may be related to plaque rupture, its direct verification using in vivo coronary plaque rupture data and full 3-dimensional fluid-structure interaction models is lacking in the current literature due to difficulty in obtaining in vivo plaque rupture imaging data from patients with acute coronary syndrome. This case-control study aims to use high-resolution optical coherence tomography-verified in vivo plaque rupture data and 3-dimensional fluid-structure interaction models to seek direct evidence for the high plaque stress/strain hypothesis. In vivo coronary plaque optical coherence tomography data (5 ruptured plaques, 5 no-rupture plaques) were acquired from patients using a protocol approved by the local institutional review board with informed consent obtained. The ruptured caps were reconstructed to their prerupture morphology using neighboring plaque cap and vessel geometries. Optical coherence tomography-based 3-dimensional fluid-structure interaction models were constructed to obtain plaque stress, strain, and flow shear stress data for comparative analysis. The rank-sum test in the nonparametric test was used for statistical analysis. Our results showed that the average maximum cap stress and strain values of ruptured plaques were 142% (457.70 versus 189.22 kPa; P=0.0278) and 48% (0.2267 versus 0.1527 kPa; P=0.0476) higher than that for no-rupture plaques, respectively. The mean values of maximum flow shear stresses for ruptured and no-rupture plaques were 145.02 dyn/cm2 and 81.92 dyn/cm2 (P=0.1111), respectively. However, the flow shear stress difference was not statistically significant. This preliminary case-control study showed that the ruptured plaque group had higher mean maximum stress and strain values. Due to our small study size, larger scale studies are needed to further validate our findings.

Left ventricular function assessment including or excluding trabeculations in left ventricular non-compaction, a preliminary case-control cardiac magnetic resonance study.

Functional assessment of compact myocardium and hypertrabeculations in left ventricular non-compaction (LVNC) is underestimated with regards to the morphological spectrum of disease. We aimed to assess whether measuring concurrently left ventricular (LV) volume, mass and ejection fraction (LVEF) with and without trabeculation inclusion on cine magnetic resonance (cineMR) could help diagnose patients with LVNC by comparison to normal individuals with an excess of myocardial trabeculations. This retrospective single center magnetic resonance imaging study (Bichat University Hospital) of 67 consecutive patients with echocardiographic hypertrabeculations seen at echocardiography between March 2011 and October 2018 included 30 patients with known LVNC and 16 control subjects with simple hypertrabeculations (non-compact/compact (NC/C) ratio between 1.8 and 2.2, trabeculations involving 10% to 17% of the left ventricle) using steady-state free precession (SSFP) cine sequences in the standard views. LV volumes, mass and LVEF were measured with and without trabeculation inclusion using CVI42 software. Follow-up was studied in 20 patients and 14 controls. Functional parameters were compared using Student's paired t-test. Pearson product moment correlation coefficients were calculated. Bland-Altman analysis determined the inter- and intra-reader functional data reproducibility. When excluding the trabeculations (i.e. non-compacted myocardium) from measurements, LVEF was within normal ranges both in patients and controls, while it increased by 9.8%±1.6% in LVNC and decreased by 10.9%±1.4% in controls when trabeculae were included in the endocardial contours (P<0.0001). The overall myocardial mass remained stable according to the diastolic or systolic phase in LVNC whereas it significantly decreased in controls. Depending whether trabeculations were included or not, LVEF measurements were significantly different between patients with LVNC and controls. These distinctive measurements might be used as an adjunctive clinical tool to help confirm the diagnosis of LVNC.

Association between hematological parameters, serum retinol, and glycemic indices in diabetes mellitus: a preliminary case-control study

Background: The global prevalence of type 2 diabetes mellitus (T2DM) is on the rise. Hyperglycemia, free radical damage, and inflammation are commonly implicated as the etiopathological factors of diabetes mellitus. This preliminary study aims to investigate the association of the disease with serum retinol and hematological parameters and compare these parameters with non-diabetic controls. Methods: The biophysical profiles of 85 subjects with diabetes and the same number of healthy controls were recorded using standard techniques. Biochemical and hematological investigations were carried out. The data are expressed as median with interquartile range (IQR) values. Mann–Whitney U-test was conducted to assess the difference between the two groups. Results: There were a significant increase in median values of glycated hemoglobin (HbA1c), fasting blood glucose (FPG), and white blood cells (WBC) and a significant decrease in median values of monocytes in subjects with T2DM as compared to controls. There was a significant negative correlation between eosinophils and FPG in subjects with T2DM. In healthy controls, there was a significant positive correlation between serum retinol, certain hematological parameters, and HbA1c; and there was a significant negative correlation between WBC and FPG. The T2DM group had a significant negative correlation between eosinophil count and FBG. Conclusion: Our study shows that serum retinol levels are not reflective of oxidative stress, but a routine WBC and differential count can shed light on the chronic inflammatory status. These results help with the formulation of targeted treatment to delay progression of the disease and prevent its complications. Relevance for Patients: Vitamin A plays a pivotal role safeguarding the immunity and eye health for diabetic patients, but serum retinol estimation is not reflective of inflammatory or glycemic control status in diabetic patients. They would benefit from a hematocrit test.

Diagnostic significance of plasma gastrin concentration for the diagnosis of type 1 abomasal ulcer in water buffalo: A preliminary case control study

The type 1 abomasal ulcer (AU1) does not have specific clinical signs, so there is a need to identify some early biochemical markers for its diagnosis in cattle and buffaloes. The plasma gastrin is reported to reflect the gastric mucosa damage but its utility for the diagnosis of AU1 in buffaloes has not been evaluated. The objective of this study was to investigate the test performance of plasma gastrin to distinguish between healthy buffaloes and the buffaloes with AU1. Twenty-three buffaloes with AU1 and six buffaloes without any abomasal ulcer were used. The blood samples were collected from buffaloes, slaughtered in a buffalo specific slaughterhouse for estimation of the plasma gastrin. After slaughter the abomasa were examined for the presence of AU1 and the blood samples were collected for estimation of plasma gastrin. The mean plasma gastrin concentration of the ulcer-positive buffaloes was significantly (P&lt;0.05) higher than the ulcer-negative buffaloes. The receiver operating characteristic curve analysis suggested that the optimal value of plasma gastrin for the diagnosis of AU1 was 106.2 pg/mL. This preliminary work suggests that plasma gastrin could be a valid diagnostic test for the detection of AU1 in the buffaloes. The sensitivity, specificity, positive predictive value and negative predictive value of the plasma gastrin to diagnose AU1 in the buffaloes were 78.3, 100, 100 and 69.9 pg/mL, respectively.

Neuropsychological aspects and mood profiles of patients with COVID-19: results of a preliminary case-control study with Brazilian participants

Background: The long-term effects of COVID-19 became a target of investigation in the years following the spread of the SARS-CoV-2 virus. The current evidence is mixed and includes studies suggesting an impairment in psychological, neuropsychological, and mood conditions, while other studies have failed to find significant differences. Aim: We compared the cognitive and mood profiles of patients who had COVID-19 with a control group using neuropsychological measures and self-reported questionnaires. Methodology: We implemented a case-control study from September 2021 to June 2022. We conducted an in-person neuropsychological evaluations of 45 patients who had COVID-19 and a control group of 16 participants, matching them for age, sex, education, and civil status. We evaluated their perception, attention, memory, and mood profiles. We used one-sided T-tests to check the plausibility of the hypothesis of worse results in the group of patients who had COVID-19 and we implemented a chi-squared test to assess the percentage of participants at risk for depression and anxiety in both groups. Results: We found no significant differences on either the cognitive tests or mood profile. Conclusion: Although preliminary, the data suggest that people who had COVID-19 have similar cognitive skills and mood profiles compared to a control group. Further research is important, given the mixed results published in the scientific literature.

Sensitivity and specificity of salivary pipecolic acid in head and neck squamous cell carcinoma

Aim: The aim of the present preliminary case-control study was to test the sensitivity and specificity of salivary pipecolic acid in predicting head and neck squamous cell carcinoma (HNSCC). Methods: High-performance liquid chromatography was used for the analysis of non-stimulated saliva samples from 40 individuals: 20 in the case group (recently diagnosed with untreated HNSCC) and 20 in the control group (individuals without cancer). Both groups included patients taking daily oral hypoglycemic drugs (comorbidity). The case and control groups were matched at a proportion of 1:1 for sex and comorbidity. Results: Mean salivary levels of pipecolic acid were 169.38 ng/ mL in the case group and 114.66 ng/mL in the control group (p&lt;0.001). Individuals who took oral hypoglycemic drugs had higher levels of pipecolic acid in both the case and control groups (p&lt;0.001). The receiver operating characteristic curve analysis revealed 90% sensitivity and 65% specificity for head and neck cancer, with an area under the curve of 0.838 between the case and control groups. Conclusions: Pipecolic acid had high sensitivity for the diagnosis of HNSCC but low specificity in the sample analyzed. Our findings suggest that salivary pipecolic acid levels are associated with glucose homeostasis. Studies with larger samples are required to evaluate the specificity of this metabolite.

Liver fibrosis estimated using extracellular volume fraction obtained from dual-energy CT as a risk factor for hepatocellular carcinoma after sustained virologic response: A preliminary case–control study

PurposeTo assess hepatocellular carcinoma (HCC) risk after sustained virologic response (SVR) through clinical data analyses, including evaluation of liver fibrosis using the extracellular volume fraction (ECV) obtained from dual-energy computed tomography (DECT). MethodsNinety-two patients (52 men and 40 women; mean age, 69.9 years) with hepatitis C virus infection after SVR underwent DECT of the liver (3-minute equilibrium-phase images) between January 2020 and March 2022. The ECV was calculated by measuring iodine density; fibrous markers, including ECV, fibrosis-4 index, aspartate aminotransferase to platelet ratio index, and platelet count, were statistically analyzed (p < 0.05). The risk factors associated with HCC were analyzed using univariate and multivariate logistic regression analyses. ResultsThe ECV (26.1 ± 4.6 %) in patients with HCC (n,21) was significantly larger than the ECV (20.7 ± 3.3 %) in patients without HCC (n = 71) (p < 0.001). The cutoff value for the ECV was 24.3 %. The area under the operating characteristic curve of the ECV was 0.857, which was higher than that of the serum fibrosis markers. Older age, SVR achieved with interferon, alpha-fetoprotein level (>5 ng/mL), advanced fibrosis before treatment (>F3), and ECV were associated with HCC according to the univariate analysis. Multivariate analyses showed that ECV was the only factor independently associated with HCC (odds ratio 0.619, 95 % confidence interval 0.482–0.795, p < 0.001). ConclusionLiver fibrosis estimated using ECV can be a predictive marker in patients with HCC after SVR.

CD40 gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary case-control study and meta-analysis.

CD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the CD40 gene in patients with KD from the Indian subcontinent are not available. We studied the CD40 gene polymorphisms and its expression in children with KD from North India. SNPs of the CD40 gene (rs4810485, rs1535045) were studied using Sanger sequencing. CD40 expression was studied by flow cytometry. Meta-analysis was carried out to assess the role of both SNPs of the CD40 gene in KD. GRADEpro GDT software (v.3.2) was used to assess the "certainty of evidence." Forty-one patients with KD and 41 age-, sex-matched febrile controls were enrolled. However, none of the alleles and genotypes of the CD40 gene were found to be associated with KD. CD40 expression was higher in KD and in KD with CAAs compared to controls, but it failed to reach statistical significance. In a meta-analysis, the T allele of rs153045 was found to be significantly associated with KD (OR = 1.28; 95% confidence interval (: 1.09-1.50; p = 0.002). The GRADE of evidence for this outcome, however, is of " very low certainty." The present study found no association between SNPs (rs4810485 and rs153045) and susceptibility to KD. This could be a reflection of a modest sample size. CD40 expression was higher in KD and in KD with CAAs. In the meta-analysis, the T allele of rs153045 was significantly associated with KD. Our study confirms a significant genetic heterogeneity in KD among different ethnicities.

The Association of Human Leucocyte Antigen (HLA) Class I and II Genes with Cutaneous and Visceral Leishmaniasis in Iranian Patients: A Preliminary Case-Control Study.

Leishmaniasis is currently considered a re-emerging or emerging infection based on the geographic region. The outcome of leishmaniasis vastly depends on Leishmania-host interaction. This preliminary study aimed to show the association of human leukocyte antigen (HLA) class I and II genes with healed and non-healed cutaneous leishmaniasis (CL), and symptomatic and asymptomatic visceral leishmaniasis (VL) compared with control groups in Iran. Ninety-five people, including 31 patients versus 64 individuals in the control group, were enrolled. Among them, 20 patients had confirmed CL based on amastigote observation, 10 had improved CL and 10 non-healed CL. Eleven patients were suffering from confirmed VL based on direct agglutination test (Five asymptomatic and six symptomatic VL cases). Besides, they were residents in an endemic area of VL in the northwest of Iran. To select a control group, it was ensured that they had no history of leishmaniasis. Peripheral blood samples were collected from each patient. After DNA extraction, HLA typing was conducted using polymerase chain reaction - sequence-specific priming (PCR-SSP). Subsequently, data were statistically analyzed by SPSS. There was a statistical relationship between the presence of HLA-A26 and CL, healed CL and the existence of the B38 allele, C1 allele and symptomatic VL, as well as B1.4 allele and asymptomatic VL (P<0.05). This primary finding indicates that several HLA genes have a potential role in the susceptibility of Iranian people to CL and VL.

(125) Factors Associated with Erectile Dysfunction in Copper and Cobalt Miners: A Cross-sectional Study in the Katanga Province, DR Congo

Abstract Introduction The African Copperbelt is a site of intense artisanal and industrial mining and refining of copper and cobalt. Based on a preliminary case-control study of erectile dysfunction among mineworkers in the former Katanga province of the Democratic Republic of Congo (Musa et al. Occupational and Environmental Medicine 2020), Objective We further investigated possible factors associated with erectile dysfunction in copper and cobalt miners in the Katanga province. Methods In a cross-sectional study of 138 miners and 140 controls (bakers), we administered questionnaires face-to-face in French or Swahili to obtain socio-demographic and occupational data, and to assess male sexual function [International Index of Erectile Function (IIEF-15)] and marital relation quality [Revised Dyadic Adjustment Scale (DAS)]. We measured trace metals in blood and urine and testosterone and thyroid hormones in serum. Results Miners and bakers had similar median (IQR) age [35.6 y (30.6–40.0)]. Miners had significantly lower scores than bakers for IIEF-15 [66 (49–73) vs 73 (66–74)] and for the three DAS domains (Consensus; Satisfaction; Cohesion). Miners had significantly lower free testosterone (8.1 ng/dL) and thyroxin (13.45 pmol/L) than bakers (9.3 and 14.75, respectively). Factors associated with IIEF- EF scores ≤ 22 were: mining-related job (aOR 2.09, 95% CI 1.14–3.81; p=0.016), work seniority in mining (aOR 1.07, 95% CI 1.02–1.13; p=0.005) and regular use of aphrodisiacs (aOR 2.80, 95% CI 1.56–5.02; p=0.001). Mediation analysis showed that consensus mediated by 50% the relation between work seniority in mining and erectile function. Conclusions Compared to controls, miners had poorer sexual function and marital relation, and lower free testosterone and thyroxin. This may be due to their high exposure to trace metals (especially Pb). Erectile dysfunction is found to be increased by lower consensus in couples possibly due to longer time spent working away from home. Disclosure No

Leu72Met Polymorphism in Ghrelin Gene: A Potential Risk Factor for Hypertension in Type 2 Diabetes Patients.

Ghrelin (GHRL) is known to be engaged in metabolic and cardiovascular processes. There is evidence suggesting its involvement in the regulation of blood pressure and hypertension. The purpose of this preliminary case-control study was to determine the involvement of the Leu72Met (rs696217) polymorphism in the GHRL gene in type 2 diabetes (T2DM). The Leu72Met polymorphism was genotyped in 820 individuals with T2DM and 400 healthy subjects by the PCR-RFLP technique. The polymorphism distribution was first compared in those withT2DM and controls, then in subgroups of participants representing different clinical phenotypes. No significant association was identified between Leu72Met and T2DM. The distribution of polymorphism was analyzed in subgroups of individuals with different clinical phenotypes (hypertension, diabetic nephropathy, obesity). In this analysis, rs696217 was associated with hypertension. The presence of T allele was associated with higher risk of hypertension (OR = 2.50, 95% CI 1.68-3.73, p < 0.001). When adjusted for age, gender and BMI, the association was still significant (OR = 2.62, 95% CI 1.83-3.96, p < 0.001). A post hoc power calculations based on a minor allele frequency revealed the power of 97% for comparison between HY+ and HY- subgroups. This is the first study demonstrating that the ghrelin Leu72Met SNP is associated with hypertension in Caucasians with T2DM. If confirmed in larger studies in different populations, it may be a novel potential risk factor for hypertension in individuals withT2DM.

Association study to evaluate Foxo1 and Foxo3 gene polymorphisms in polycystic ovary syndrome: a preliminary case-control study and in silico analysis.

Polycystic ovary syndrome (PCOS) is known as a multifactorial and multi-gene-mediated endocrine disorder among women of reproductive age. FoxO1 and FoxO3 are members of the forkhead transcriptional factors family that play a pivotal role in the function of ovaries. The current work is aimed at investigating the association between gene variants of FoxO1 and FoxO3 and the risk of PCOS in a sample of the Iranian population. We recruited 200 women diagnosed with PCOS and 200 healthy women. Both polymerase PCR-RFLP and ARMS-PCR methods were used for genotyping. Sanger sequencing was recruited to confirm the genotypingresults. The T allele of rs17592236 and the C allele of rs12585277 decreased PCOS risk by 29 and 28%, respectively. In contrast, the C allele of rs2253310 and G allele of rs2802292 increasedthe risk of PCOS by 1.39 and 1.63 folds, correspondingly. Bioinformatics results showed that some genes, including matrix metallopeptidase 9 (MMP-9), phosphoinositide-3-Kinase Regulatory Subunit 224 1 (PIK3R1), peroxisome proliferator-activated receptor Gamma (PPARG), and glycogen synthase 225 kinase-3 beta (GSK-3 beta) have significant interactions with FoxO1, suggesting that FoxO1 might have crucial roles in regulating different signaling pathways in ovarian cells. We found that FoxO1 rs17592236C > T and rs12585277C > T had a protective role against PCOS, while FoxO3 rs2253310C > G and rs2802292G > T enhanced the risk of this metabolic disorder in our population. Additional studies on larger populations with varying racesare needed to confirm these findings.

Efficacy of cognitive behavioral therapy after the surgical treatment of women with endometriosis: A preliminary case-control study

Regardless of unique status or symptoms, any woman with endometriosis is at risk of developing mental health issues such as anxiety and depression. Cognitive behavioral therapy (CBT) is an effective psychological treatment for depression, anxiety, and stress. The objectives of the study were to see whether usual care combined with CBT improves depression, anxiety, and stress in patients after surgery for endometriosis as compared to usual care alone. Patients aged 18 to 50 years old with endometriosis who were scheduled for surgery were received usual care (Chinese martial arts) with CBT (1 pre-surgery and 6 post-surgery CBT sessions; Case or Intervention group, n = 48) or usual care only (Control group, n = 48). The demographic characteristics questionnaire was given to all individuals. Depression, anxiety, and stress were evaluated at baseline (within 24 hours after admission to the hospital) and postintervention (immediately before discharged) in both groups using the Chinese short version of Depression Anxiety and Stress scale (DASS-21). At postintervention DASS-21 scores for depression, anxiety, and stress of the case group and the control group were decreased as compared to baseline (P < .0001 for all). At postintervention DASS-21 score for anxiety of the case group was decreased compared to the control group (P = .0091). Usual care plus CBT significantly increased the number of females with no symptoms of depression as compared to baseline at postintervention(s) (P = .0356). At postintervention(s), there was no female with extremely severe depression in both groups. Usual care plus CBT significantly decreased the number of females with symptoms of extremely severe anxiety as compared to baseline at postintervention(s) (P = .035). Unlike the control group, in the case group, there were no females with extremely severe stress at postintervention. females with endometriosis who had surgery reported high levels of depression, anxiety, and stress at the time of hospital admission. Patients with endometriosis can benefit from CBT.

Gene expression of circadian genes and CIART in bipolar disorder: A preliminary case-control study

Based on the observed circadian rhythms disruptions and sleep abnormalities in bipolar disorders (BD), a chronobiological model has been proposed suggesting that core clock genes play a central role in the vulnerability to the disorder. In this context, the analysis of circadian genes expression levels is particularly relevant, however studies focused on the whole set of core clock genes are scarce. We compared the levels of expression of 19 circadian genes (including the recently described circadian repressor (CIART)) in 37 euthymic individuals with BD and 20 healthy controls (HC), using data obtained by RNA sequencing of lymphoblastoid cell lines and validated the results using RT-qPCR. RNA sequencing data showed that CIART gene expression was correlated with those of ARNTL, ARNTL2, DBP, PER2 and TIMELESS. Data from RNA sequencing showed that the level of expression of four circadian genes (ARNTL, ARNTL2, BHLHE41 and CIART) discriminated individuals with BD from HC. We replicated this result using RT-qPCR for ARNTL and CIART. This study suggests that an imbalance between activation/repression of the transcription within the circadian system in individuals with BD as compared to HC and as such opens avenues for further research in larger independent samples combining both expression and epigenetic analyses.

High Serum Levels of IL-6 Are Associated with Suicide Attempt but Not with High Lethality Suicide Attempts: A Preliminary Case-Control Study.

Suicide attempts are an emerging health problem around the world. Increased levels of IL-6 have been associated with suicidal behavior. Therefore, the aims of this study were to evaluate the serum levels of IL-6 in individuals with suicide attempts and a comparison group and to associate the IL-6 levels with the lethality of the suicide attempt. Additionally, we associated the rs2228145 polymorphism of the IL6R gene with suicide attempts or with the IL-6 serum levels. Suicide attempts and their lethality were evaluated using the Columbia Suicide Severity Rating Scale. The serum concentrations of IL-6 were measured by the ELISA technique in individuals with suicide attempts and then compared to a control group. The rs2228145 polymorphism of the IL6R gene was analyzed by real-time polymerase chain reaction. We found elevated serum levels of IL-6 in the suicide attempt group when compared to the control group (F = 10.37, p = 0.002). However, we found no differences of the IL-6 levels between high and low lethality. The IL6R gene polymorphism rs2479409 was not associated with suicide attempts. Our data suggest that IL-6 serum is increased in individuals with suicide attempts.

Association between osteoporotic fractures and statin use – A review of literature and results of a preliminary case control study done at National Hospital of Sri Lanka

A case control study was conducted among elderly patients presenting to NHSL accident service. A hundred patients aged more than 60 years who presented with newly diagnosed neck of femur, distal radial and vertebral body wedge fractures following minor trauma were recruited from April 2021 to July 2021. Patients who had previous osteoporotic fractures and previous hip, distal radius and spine surgery were excluded from the study. An additional group of 100 patients who were matched for age and sex presenting to the same unit following minor trauma without osteoporotic fractures were selected as the control group with the same exclusion criteria. Use of statins for more than 4 months and other sociodemographic and lifestyle factors were compared among the two groups.&#x0D; As no other independent variable was found to be significantly related to osteoporotic fracturs between the two groups, univariable analysis was done. The odds of current statin use in cases with osteoporotic fracture (45.2%) were lower than the odds of current statin use (54.8%) in subjects without osteoporotic fractures adjusted OR 0.74, 95% CI 0.42, 1.32) (p=0.304).&#x0D; According to our results there might be a protective effect in statin use against osteoporotic fractures although a statistical significance was not demonstrated. However further studies using larger sample size and randomized control studies are suggested to ascertain a statistically significant result.

An association between the sarcolemmal membrane-associated protein gene and microvascular endothelial diabetic retinopathy in patients with type 2 diabetes mellitus: A preliminary case control study

Background and aimsDiabetic retinopathy (DR) is one of the most common microvascular diabetic complications. Sarcolemmal membrane-associated protein (SLMAP) has been implicated in playing a role in microvascular endothelial dysfunction. This study aimed to assess the significance of SLMAP rs17058639C > T gene polymorphism among patients with type 2 diabetes mellitus (T2DM) and its relevance to microvascular endothelial diabetic retinopathy. MethodsWe conducted this case-control study on 100 individuals divided into 60 participants with T2DM and 40 healthy controls. Patients with T2D were stratified into two groups: 40 patients with DR and 20 patients with diabetic non-retinopathy (DNR). Patients with T2DM were compared with age- and sex-matched healthy controls. Fundus examinations were conducted to detect microvascular endothelial changes. The polymorphism of SLMAP rs17058639C > T gene was identified by real-time polymerase chain reaction (RT-PCR) TaqMan allelic discrimination. ResultsPatients with DR have significantly increased glycated hemoglobin (HbA1c) compared to patients with DNR (P < 0.001). There was no statistically significant difference found between diabetic and control groups regarding the frequency of SLMAP rs17058639C > T genotypes. The homozygous CC genotype was the most common variant among patients with DR; however, the results did not reach statistical significance. ConclusionsDiabetic retinopathy is correlated with poor glycemic control, and SLMAP rs17058639C > T polymorphism was associated with microvascular endothelial DR in patients with T2DM, although further studies with a large sample size are needed to confirm our findings.

Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis.

Accumulating evidence has suggested that miR-137 and its target genes, CACNA1C, and TCF4, are amongst the most robustly implicated genes in psychiatric disorders. This preliminary study is aimed at investigating the effects of genetic variations in miR-137 (rs1625579A/C), TCF4 (rs1261084C/T), and CACNA1C (rs10774053A/G and rs10466907G/T) on BD susceptibility. We recruited 252 BD patients and 213 healthy subjects as the control group. Genotyping was performed using PCR-RFLP and ARMS-PCR methods. Enhanced risk of BD was found under the codominant homozygous, dominant, and allelic models of TCF4 rs1261084C/T, codominant homozygous and allelic models of CACNA1C rs10466907G/T polymorphisms, as well as codominant homozygous, dominant, recessive, and allelic models of the CACNA1C rs10774053A/G. Moreover, both TT/AG/GT/AA and TT/GG/GT/AC genotype combinations strongly increased the risk of BD in the participants. The bioinformatics analyses revealed that rs1261084C/T and rs10466907G/T created and disrupted binding sites of some miRNAs in the 3′-untranslated region of TCF4 and CACNA1C genes. In contrast, the rs10774053A/G created a new binding site for a major splicing factor and might have an effective role in the function of the CACNA1C protein. We have found that all the studied SNPs are positively associated with BD susceptibility. Replicated studies on different ethnicities are required to confirm these findings.

Methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphisms in breast cancer: A Filipino preliminary case-control study

Single nucleotide polymorphisms (SNP) present in folate metabolic enzymes, such as methylenetetrahydrofolate reductase (MTHFR), affect DNA synthesis and methylation processes that can lead to cancer development. Several studies suggest that MTHFR SNP is associated with breast cancer risk, particularly among Asian populations. Thus, this study determined the association of MTHFR 677C>T SNP with breast cancer risk in selected Filipino population. DNA samples from breast cancer cases (n = 100) and clinically healthy controls (n = 100) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The differences in MTHFR genotype and allele frequencies were evaluated by computing for the odds ratio (OR) with a 95 % confidence interval (CI). The CT genotype (OR: 0.775, 95 % CI: 0.35–1.71, p = 0.53), T allele (OR: 0.703, 95 % CI: 0.34–1.48, p = 0.35), and presence of at least one T allele (ORCT+TT: 0.729, 95 % CI: 0.33–1.60, p = 0.43) were not associated with breast cancer risk. Based on the SNP interaction with other risk factors, no significant difference (p > 0.05) was observed for the tumor characteristics, menarche age, and menopause age. Interestingly, a decreased risk (OR: 0.342, 95 % CI: 0.14–0.84, p = 0.019) was observed for the CC genotype in individuals who consumed dietary fibers. Meanwhile, there was an increased risk for passive smokers with the CC genotype (OR: 6.31, 95 % CI: 2.68–14.9, p < 0.001). Overall, the MTHFR 677C>T was not significantly associated with breast cancer risk in a selected Filipino population. Since this study involved a relatively small number of participants, increasing the number of samples is recommended for a more conclusive test of association of MTHFR 677C>T with breast cancer risk in Filipinos.