The digit ratio (2D:4D) has been associated with prenatal hormonal influences and various traits and pathologies. This article explores the relationship between 2D:4D and a series of common polymorphisms and Torque Teno Viruses. In this study, 120 healthy participants were included. The IGF2 Apa I, ACE I/D, INS -23 Hph I, VDR Fok I, VDR Apa I, VDR Taq I, AT1R A1166C polymorphism were genotyped by PCR-RFLP technique, and the IL-6 -174 G/C polymorphism by tetra-primer ARMS-PCR. The presence of TTV was identified by a hemi-nested PCR technique. Haplotype analyses were performed using the SHEsis software. The average 2D:4D values were similar for men and women. Overweight men presented higher 2D4D ratios than normal-weight women (p<0.05). Lower 2D:4D values were recorded in women with pregnancy loss or one child or none (p<0.001). Men with lower 2D4D ratios reported a higher number of children (p<0.001). The IGF2 GG and ACE DD were associated with a higher digit ratio in all subjects and in the women’s subset. A significant association was found in men between 2D:4D and the INS-23 Hph I – IGF2 Apa I T-G haplotype (p<0.01). The data obtained in this study indicate a sexual dimorphism for the digit ratio. The associations between 2D:4D and the genetic polymorphisms studied could be influenced by gender.
Different factors may be involved in the clinical heterogeneity of spinal muscular atrophy disease. The vitamin D receptor (VDR) might be a candidate gene for this disease. Our study aimed to assess the preferential transmission of VDR polymorphisms from parents to SMA children. We genotyped 261 subjects (87 SMA nuclear families) for VDR FokI, BsmI, ApaI, and TaqI polymorphisms. The transmission of the genetic marker was estimated with Plink and FBAT software. It detected a preferential transmission of the rs731236 and rs7975232 variants to SMA1 patients and of rs1544410 variants to SMA2 patients. The variants of rs2228570 were preferentially transmitted to parents of all SMA patients. Haplotype analysis identified that haplotypes C-C-G-A and T-A-A-G seem to be involved in the booth type of SMA whereas the impact of T-A-A-A seems to be limited only to SMA2. Strong linkage disequilibrium (LD) between rs7975232 and rs1544410 was detected in samples from parents. Even though we investigated a small number of nuclear families the results suggest a potential link between VDR polymorphisms and SMA disease.
Vitamin D receptor gene polymorphisms have been intensively studied in relation with many diseases, including neurodegenerative disorders. We investigated the relationship between VDR polymorphisms and spinal muscular atrophy type I, a common lower motor neuron disease. Forty clinically and molecular diagnosed patients and 54 healthy subjects were analyzed PCR-RFLP method. We found an association trend (p=0.01) for the BsmI polymorphism taken individually and a significant association for two of four-locus inferred haplotypes (fBAt and fbaT). Also, baT, Bat and bAT were the most frequent estimated haplotypes in our control group, which is in accordance with previous published reports for Caucasian populations. We concluded that future studies performed in order to identify possible modifier genes for spinal muscular atrophy disease should take into consideration the involvement of vitamin D receptor gene polymorphisms.
Stroke has a significant prevalence in Romania. The predisposition for this multifactorial disease is partially known. The aim of this study is to investigate the predisposition for stroke in Romanian population. Material and methods. We selected cases with recent ischemic stroke (n=100) and healthy control subjects (n=100). The AGTR1 A1166C (rs5186) polymorphism was genotyped by restriction of amplicons with Dde I endonuclease. Results. Active cigarette smoking (O.R. =6.92, p=0.0001) or presence of the AT1R C variant (O.R. =6.69, p=0.0006) in overweight or obese women significantly increase the risk for ischemic stroke. The diagnosis of stroke (71.5 vs 68 years old) or T2DM (63.39 vs 60.77 years old) was recorded at an older age in women compared to men (p<0.05). Obesity considered independent (O.R. =4.22, p<0.05) or in association with T2DM (O.R. = 10.16, p=0.0002) confers the highest risk of stroke when compared to women. Conclusions. Obesity in association with T2DM confers the highest risk of stroke for men when compared to women. Active cigarette smoking or AT1R C variant significantly increase the risk for stroke in women with a high BMI compared with controls.
Acute myocardial infarction (AMI) is a multifactorial condition and a leading cause of morbidity and mortality worldwide. This study aimed to assess the distribution of clinical and demographic characteristics among AMI patients and compare these findings with data from the RO-STEMI program for the Romanian population. We performed a case-control analysis of 138 patients presenting with chest pain at the Emergency Department of “Dr. Carol Davila” Central Military Emergency University Hospital between November 2021 and April 2022. The AMI group (n = 69) included patients with STEMI-specific ECG changes and elevated cardiac biomarkers, while the control group (n = 69) was represented by patients with chest pain but normal ECG and biomarkers. Men with AMI were 8.66 years younger than women, exceeding the 6.51-year difference reported by RO-STEMI. Hypertension and dyslipidemia were strongly associated with AMI (OR = 8.20 and OR = 7.36, p < 0.0001). During the pandemic, early presentation (<6 h) decreased by 15%, while arrivals within 6–12 h increased by 19.02%. Primary percutaneous coronary intervention was performed in 81.16% of cases versus 12.94% previously. Killip class and reduced left ventricular ejection fraction correlated with mortality and hospitalization duration. These findings indicate significant changes in AMI onset age, treatment strategies, and presentation delays compared to pre-pandemic data.
