Association between rs20456 and rs6930913 of Kinesin-Like Family 6 and Hypertension in a Chinese Cohort

This study aimed to investigate the relationship between kinesin-like family 6 (KIF6) polymorphisms and hypertension in a northeast Chinese cohort. In this study, two single nucleotide polymorphisms of KIF6 (rs20456 and rs6930913) and their haplotype were analyzed in 382 hypertension patients and 378 controls with SHEsis analysis platform, and the gene-environmental interactions were evaluated with logistic regression analysis. After adjusting for confounding factors, significantly lower risk of hypertension was observed in participants with genotype TC (0.416 (CI 0.299–0.578), p < 0.001 ) and CC (0.577 (0.389–0.857), p = 0.007 ) of rs20456 compared with TT. For rs6930913, allele T (0.522 (0.386–0.704), p < 0.001 ), genotype TT (0.325 (0.205–0.515), p < 0.001 ), and genotype CT (0.513 (0.379–0.693), p < 0.001 ) were significantly associated with lower risk of hypertension than allele C and CC genotype, respectively. Gene-environment analyses confirmed the significant influence on hypertension by the interactions between genotypes distribution in rs20456 (CT: p = 0.036 , TT: p = 0.022 ) and smoking status. No interactions were found between smoking and rs6930913, except those with dominant or recessive genetic models (both P s = 0.006 ). There were no interactions between KIF6 and overweight (all P s > 0.05 ). Haplotype analyses showed that CC ( p = 0.005 ) and TC ( p = 0.001 ) of rs20456 and rs6930913 were significantly associated with a statistically increased risk of hypertension. The false-positive report probability (FPRP) analysis was used to verify significant findings. In conclusions, KIF6 might affect the susceptibility of hypertension. The allele C (rs20456) and allele T (rs690913) were inclined to protect individuals from hypertension both in genotype and haplotype analyses.

Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence

Purpose. With the increasing incidence of thyroid cancer (TC), associations between genetic polymorphisms and TC risk have attracted a lot of attention. Considering that the results of associations of genetic variants with TC were usually inconsistent based on publications until now, we attempted to comprehensively evaluate the real evidence of associations between single nucleotide polymorphisms (SNPs) and TC risk. Method. We performed meta-analyses on 36 SNPs in 23 genes associated with TC susceptibility based on the data from 99 articles and comprehensively valued the epidemiological evidence of significant associations through the Venice criteria and false-positive report probability (FPRP) test. OR and P value were also calculated for 19 SNPs in 13 genes based on the insufficient data from 22 articles. Results. 19 SNPs were found significantly associated with TC susceptibility. Of these, strong epidemiological evidence of associations was identified for the following seven SNPs: POU5F1B rs6983267, FOXE1 rs966423, TERT rs2736100, NKX2-1 rs944289, FOXE1 rs1867277, FOXE1 rs2439302, and RET rs1799939, in which moderate associations were found in four SNPs and weak associations were found in eight SNPs. In addition, probable significant associations with TC were found in nine SNPs. Conclusion. Our study systematically evaluated associations between SNPs and TC risk and offered reference information for further understanding of polymorphisms and TC susceptibility.

YTHDF2 Gene rs3738067 A>G Polymorphism Decreases Neuroblastoma Risk in Chinese Children: Evidence From an Eight-Center Case-Control Study

Neuroblastoma is a primary malignancy mainly occurring in children. We have reported that polymorphisms of several N6-methyladenosine (m6A) RNA modification-related genes contributed to neuroblastoma risk in previous studies. YTHDF2, a “reader” of RNA m6A modification, is involved in cancer progression. Here, we estimated the association between a YTHDF2 gene rs3738067 A&gt;G polymorphism and neuroblastoma susceptibility in 898 neuroblastoma patients and 1,734 healthy individuals from China. We found that the rs3738067 A&gt;G could decrease neuroblastoma risk [AG vs. AA: adjusted odds ratio (OR) = 0.76, 95% confidence interval (CI) = 0.64–0.90, P = 0.002; AG/GG vs. AA: adjusted OR = 0.81, 95% CI = 0.69–0.95, P = 0.011). Besides, the rs3738067 AG/GG genotype was related to reduced neuroblastoma risk in the following subgroups: children aged 18 months and under, boys, patients with tumors originating from retroperitoneal, patients at clinical stage IV, and cases at clinical stages III plus IV. Importantly, false-positive report probability analysis proved our significant results worthy of close attention of. The expression quantitative trait locus analysis results revealed that the rs3738067 was associated with the expression of YTHDF2.

METTL14 gene polymorphisms decrease Wilms tumor susceptibility in Chinese children

Background Wilms tumor is a highly heritable malignancy. Aberrant METTL14, a critical component of N6-methyladenosine (m6A) methyltransferase, is involved in carcinogenesis. The association between genetic variants in the METTL14 gene and Wilms tumor susceptibility remains to be fully elucidated. We aimed to assess whether variants within this gene are implicated in Wilms tumor susceptibility. Methods A total of 403 patients and 1198 controls were analyzed. METTL14 genotypes were assessed by TaqMan genotyping assay. Result Among the five SNPs analyzed, rs1064034 T > A and rs298982 G > A exhibited a significant association with decreased susceptibility to Wilms tumor. Moreover, the joint analysis revealed that the combination of five protective genotypes exerted significantly more protective effects against Wilms tumor than 0–4 protective genotypes with an OR of 0.69. The stratified analysis further identified the protective effect of rs1064034 T > A, rs298982 G > A, and combined five protective genotypes in specific subgroups. The above significant associations were further validated by haplotype analysis and false-positive report probability analysis. Preliminary mechanism exploration indicated that rs1064034 T > A and rs298982 G > A are correlated with the expression and splicing event of their surrounding genes. Conclusions Collectively, our results suggest that METTL14 gene SNPs may be genetic modifiers for the development of Wilms tumor.

DESCRIPTIVE STUDY OF HRCT CHEST IN EVALUATION OF RADIOLOGICAL PULMONARY FINDINGS IN POSITIVE COVID-19 PATIENTS

COVID19 pandemic severely infects patients with co morbidities like diabetes mellitus, hypertension, cardio-pulmonary diseases, elderly population. In view of paucity of sensitive and specic vaccines and treatment for COVID19 patient and being a contagious disease with high morbidity and mortality rate, its mandatory to spot the disease course in early stages before complications develop and isolate (quarantine) the infected individual to prevent community spread of infection. Aim was to study the role of HRCT chest to observe extent of pulmonary involvement in positive covid-19 patients in tertiary care centre .It is a Hospital record based descriptive study carried out at the Department of Radio-diagnosis, patient with laboratory proven positive report for COVID-19 and undergoing HRCTChest. Out of 200 patients with laboratory proven positive report for COVID-19, 180 patients showed features of COVID19 infection on HRCTChest. It was found that patients with co morbidities like diabetes mellitus, hypertension, cardio-pulmonary diseases and chronic kidney disease were severely affected.

Role of HRCT Chest in Diagnosing Covid-19 Disease in Initially RT-PCR Negative Patients

Objective: To analyze CTSS score in clinically symptomatic COVID-19 patients having initial negative RT-PCR report. Design of the Study: It’s a retrospective cross sectional descriptive study. Study Settings: This study was carried out at Radiology Department, CMH Lahore from July to December 2021. Material and Methods: A total of 1000 patients presented with suspected clinical symptoms of covid-19. 770 were male patients (average of 52±15yrs) and 230 were female patients (49±15 years).Out of which 235 (23.5%) patients had initial negative PCR report & 765 patients had initial PCR positive report. 235 initial PCR negative patients got positive PCR report on subsequent repeat testing. All the patients underwent HRCT chest. Results of the Study: CTSS score of 765 PCR positive patients was determined as 545 (71.2%) having mild to moderate disease (<19.5 CTSS) and 220 (28.7%) as having severe disease (>19.5 CTSS).CTSS score of 235 PCR negative patients was determined on HRCT chest and classified as 210 (89.3%) having mild to moderate disease (<19.5 CTSS) and 25 (10.6%) as having severe disease (>19.5 CTSS). CO-RADS scoring were done and HRCT pattern analyzed in all the patients according to the standard protocol. Multivariate analysis was performed and showed significant correlation between CTSS score and initial PCR negative patients. Sensitivity and specificity of CT chest in determining covid-19 findings was 89.3% and 28.7%.PPV was 89.8% and NPV was 27.8%. Conclusion: HRCT with CTSS scoring is an important tool for diagnosis of COVID-19 infection despite initial negative PCR, having sensitivity and specificity of 89.3% and 28.7% respectively. Timely identification and isolation of COVID-19 patients is helpful in preventing the spread of infection and also aid in prompt symptomatic management. Keywords: COVID-19, Computed Tomography, Ground-Glass Opacity, Reverse Transcriptase Polymerase Chain Reaction.

The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

Background Coronary heart disease (CHD) is the leading cause of human death worldwide. Genetic factors play an important role in the occurrence of CHD. Our study is designed to investigate the influence of CYP7B1 polymorphisms on CHD risk. Methods In this case–control study, 508 CHD patients and 510 healthy individuals were recruited to determine the correlation between CYP7B1 polymorphisms (rs7836768, rs6472155, and rs2980003) and CHD risk. The associations were evaluated by computing odds ratios (OR) and 95% confidence intervals (CI) with logistic regression analysis. The association between SNP-SNP interaction and CHD susceptibility was carried out by multifactor dimensionality reduction analyses. Results Our study found that rs6472155 is significantly associated with an increased risk of CHD in age > 60 years (OR 2.20, 95% CI = 1.07–4.49, p = 0.031), women (OR 3.17, 95% CI = 1.19–8.44, p = 0.021), and non-smokers (3.43, 95% CI = 1.16–10.09, p = 0.025). Rs2980003 polymorphism has a lower risk of CHD in drinkers (OR 0.47, 95% CI = 0.24–0.91, p = 0.025). Further analyses based on false-positive report probability validated these significant results. Besides, it was found that rs6472155 polymorphism was associated with uric acid level (p = 0.034). Conclusion Our study indicated that CYP7B1 polymorphisms are related to the risk of CHD, which provides a new perspective for prevent of CHD.

Association between long non-coding RNA (lncRNA) GAS5 polymorphism rs145204276 and cancer risk

Objective The long non-coding RNA (lncRNA) growth arrest‑specific transcript 5 (GAS5) plays an important role in various tumors, and an increasing number of studies have explored the association of the GAS5 rs145204276 polymorphism with cancer risk with inconclusive results. Methods PubMed, Medline, EMBASE, Cochrane databases, and Web of Science were searched, and nine studies involving 6107 cases and 7909 controls were deemed eligible. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated to evaluate the relationship between rs145204276 and cancer risk in six genetic models. Results The pooled results suggest that the variant allele del was not associated with overall cancer risk. However, the subgroup analysis showed that allele del was significantly associated with a 22% decreased risk of gastrointestinal cancer (OR = 0.78, 95% CI: 0.72–0.85). Both sensitivity analyses and trial sequential analyses (TSA) demonstrated that the subgroup results were reliable and robust. Moreover, False-Positive Report Probability (FPRP) analysis indicated that the results had true significant correlations. Conclusion These findings provide evidence that the GAS5 rs145204276 polymorphism is associated with the susceptibility to gastrointestinal cancer. Further studies with different ethnicities and larger sample sizes are warranted to confirm these results.

Invasive pulmonary and sino-orbital mucor mycosis in patient with SARS-Cov-2 infection with diabetic ketoacidosis

Patients with Severe acute respiratory syndrome coronavirus-2 (SARS-Cov-2) are susceptible for developing fungal infection due to uncontrolled diabetes or immunosuppression. A 46 years male presented with diabetic ketoacidosis, respiratory failure with peri orbital blackish discoloration with SARS-Cov-2 positive report. Computed tomography (CT) chest was suggestive of perihilar ground glass opacity and multiple thick-walled cavities. Left nasal cavity scrapings revealed hyaline aseptate hyphae and growth of Rhizopus arrhizus. Patient was initially managed conservatively with liposomal amphotericin B but later underwent orbital exenteration and finally succumbed. We want to emphasize higher mortality and aggressive management of mucor mycosis when it occurs with SARS-Cov-2 as a concurrent illness.

Thrombotic Pathology in Placenta of COVID Positive Pregnancy

Covid positive pregnant women were increasingly getting delivery in the health institution. Most of them were asymptomatic and had positive report after their obstetric event was over because of emergency nature of care. Lack of autopsy is the lacunae in determining tissue pathology. One case of sudden intrauterine fetal death in Covid positive patient had induced delivery in the hospital and the placental histopathology examination showed widespread villous infarction, decidual arteriopathy with thrombosis and chorioamnionitis.Keywords: Covid positive; fetal death; placenta; thrombosis