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.
The cytogenetic aberrations induced by doxorubicin (DOX) may be influenced by diet. Investigation regarding effects of low doses of DOX on chromosomal aberrations frequency in mice bone marrow. The study explored a possible relationship between diet, follow-up period, and cytostatic doses. Four mice groups received normal or high-fat (pork) diet. At the beginning of the 8th day mice from each group received a single intraperitoneal injection with DOX (dose range: 1.7-7.7 mg/kg b.w.) or isotonic saline solution (0.02 mL/g control mice). In the 10th (groups I, II) and 14th (groups III, IV) days from the beginning of the experiment, the mice were euthanized and chromosome aberrations were tested in bone marrow cells. The body weight of all mice who received DOX decreases, especially at higher doses. In the first three days post-injection, weight loss percentage was significantly influenced by DOX doses and/or type of diet (p0.05). DOX doses were able to increase the frequency of chromosomal aberrations. DOX acts as a potent inductor of cytogenetic aberrations in bone marrow cells, regardless of the type of diet.
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.
Diabetes mellitus refers to metabolic disorders whose main characteristic is chronic hyperglycaemia. The cause is either disturbed insulin secretion, insulin resistance, or usually both. MicroRNAs represent a subclass of non-coding RNA molecules that are short in length, about 17-26 nucleotides. Since they are circulant and can be tissue-specific, their use as diagnostic biomarkers or screening for different diseases is currently undergoing deeper studies. It was found that 22 miRNAs were associated with the pathophysiology of T1DM, 34 with T2DM, and 16 miRNAs were identified to be common amongst T1DM and T2DM. All of them were reconfirmed in at least two separate studies.
