Vascular endothelial growth factor I/D variant and postmenopausal osteoporosis risk in the Turkish population.

INTRODUCTION: Postmenopausal osteoporosis (PMOP) is a common metabolic bone disorder manifested by low bone mineral density and increased fracture risks in postmenopausal women. Vascular endothelial growth factor (VEGF) has been shown to play an important role in bone formation. In this study, we investigated the potential association between the VEGF insertion/deletion (I/D) variant (rs35569394) and PMOP in a cohort of postmenopausal Turkish women. METHODS: This study included 300 women, including 150 PMOP patients and 150 healthy postmenopausal women. A T score was used in the diagnosis of OP. DNA was extracted from all subjects. The VEGF I/D polymorphism was analyzed by the PCR method. The Hardy-Weinberg equilibrium (HWE) test and odds ratio (OR) were analyzed, considering CI 95% and p ≤ 0.05. RESULTS: The mean age of patients aged between 40 and 74 was 60.32 ± 8.65. The frequency of the I/I, I/D, and D/D genotypes was 7.34% versus 6.66%; 67.33% versus 65.34%; and 25.33% versus 28%, in patients and the control group, respectively. The allele frequencies were I: 41% (patients) and 39.4% (controls); D: 59% (patients) and 60.66% (controls). There was no statistically significant difference in the VEGF - 2549 I/D allele and genotype distribution between patients with PMOP and control subjects (p = 0.349, p = 0.864, respectively). CONCLUSION: Our results showed that the VEGF I/D variant was not a significant factor in the development of PMOP in a Turkish population sample. These findings need confirmation in other ethnic populations.

The role of the progesterone receptor PROGINS variant in the development of fibromyalgia syndrome and its psychological findings.

Fibromyalgia syndrome (FMS), a chronic pain disorder of unknown etiology, is more common in women. This suggests that biological sex is important. Therefore, we performed an analysis to determine whether the progesterone receptor (P GR) gene Alu insertion (named P ROGINS) variant is associated with an increased risk of FMS in the Turkish population. A total of 288 subjects, including 138 patients diagnosed with FMS according to the 2016 American College of Rheumatology criteria and 150 healthy subjects, were evaluated. Genotyping of the P GR P ROGINS variant was determined by polymerase chain reaction (P CR) analysis. The results of the analyses were evaluated for statistical significance. There were no subjects in the control group carrying the T2 allele. The P GR P ROGINS T1/T2 genotype was more prevalent in both all patients and female patients compared to all controls and female controls (p = 0.001, p = 0.003, respectively). A statistically significant relationship was observed in both all patients and female patients when compared to the control group according to T1/T1 vs. T1/T2+T2/T2 (p < 0.000, p < 0.001, respectively). The current study suggests that the P GR Alu insertion variant T2 allele might influence FMS susceptibility in the Turkish population. Large-sample sizes and studies of different ethnicities are required to further evaluate the association between this variant and FMS.

Evaluation of the 18-bp deletion/insertion variant of the VEGF gene in athletes.

The skeletal muscle capillary supply mainly determines the highest exercise capacity. Vascular endothelial growth factor (VEGF) is the major growth factor during the angiogenesis process. Therefore, we aimed to investigate whether the VEGF insertion/deletion (I/D) variant differs between athletes and sedentary controls in the Turkish population. Three hundred sixteen subjects, including 146 athletes from different branches and 170 sedentary people, voluntarily participated in this study. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) analysis for the VEGF I/D variant. The results were evaluated statistically. In this study, the athletes and the controls showed a statistically significant difference in the genotype and allele distribution of the VEGF I/D variant. The athletes had a more prevalent D allele and D/D genotype than the controls (p = 0.008 and p = 0.034, respectively). There was a statistically significant association between the patients and the controls in terms of D/D vs. I/I + I/D genotypes (p = 0.018). There was no significant difference in VEGF I/D genotype distribution according to sports branches. Athletic performance is a complex trait influenced by genetic and environmental factors. As far as we know, this is the first study to evaluate the VEGF I/D variant in athletes in Turkey. According to our results in this study, we concluded that the VEGF I/D variant, D/D genotype, and D allele are associated with sport performance in the Turkish population. However, there is a need for studies with large samples in which environmental and emotional factors will also be taken into account.

Evaluation of a circadian rhythm gene (PER3) VNTR variant in Turkish athletes.

OBJECTIVE: Circadian rhythmicity has been shown to contribute to the regulation of key physiological and cognitive processes related to performance. The period homolog 3 (PER3) is expressed in a circadian pattern in the suprachiasmatic nucleus. Therefore, in this study, we aimed to evaluate the role of the variable tandem repeat (VNTR) variant of the PER3 gene in athletic performance in the Turkish population. METHODS: This study included 223 subjects, which consisted of 123 athletes and 100 sedentary controls. Blood samples were drawn from all subjects. DNA was extracted from whole-blood samples. The PER3 VNTR variant was genotyped using the polymerase chain reaction-restriction method (PCR). The results of the analyses were evaluated for statistical significance. RESULTS: The mean ages of athletes and controls were 22 ± 2.814 and 23 ± 3.561, respectively. Endurance athletes in the group were 21.1%, and sprint athletes were 78.9%. There was no statistical significance in terms of PER3 VNTR genotype distribution or allele frequency. In the recessive model, a statistically significant association was observed when the athletes were compared with the controls according to 4/4 + 4/5 versus 5/5 genotype (p = 0.020). CONCLUSION: In this case-control study, for the first time in our country, we obtained findings suggesting that the PER3 VNTR variant may affect sports performance in the Turkish population. Results need to be replicated in different ethnic and larger samples.

Evaluating interleukin-6 levels and the rs1800795 variant in Turkish patients with COVID-19: a prospective cohort study.

BACKGROUND: Coronavirus disease 2019 (COVID-19) is a multisystem disease of global significance. Interleukin (IL)-6 is a soluble cytokine with a pleiotropic effect on inflammation and the immune response. OBJECTIVES: Investigate the relationship between the interleukin 6 (IL6) rs1800795 variant and IL6 level in Turkish patients with COVID-19 disease. DESIGN: Prospective cohort study. SETTING: Tertiary care hospital. PATIENTS AND METHODS: Real-time polymerase chain reaction (RT-PCR)-positive and/or chest computerized tomography (CT) scan-compatible COVID-19 patients were enrolled in the study. The clinical data and whole blood samples were collected from April 1, 2020, to August 1, 2020. IL6 rs1800795 genotyping was performed by the PCR-restriction fragment-length polymorphism (RFLP) method in 148 patients. Serum IL-6 concentrations were measured using the ELISA method in 89 patients. We evaluated the patients in three groups: asymptomatic, symptomatic, and intensive care unit patients. MAIN OUTCOME MEASURES: IL6 rs1800795 genotype frequencies and serum IL-6 levels in COVID-19 patients with different clinical presentations. SAMPLE SIZE: 148 cases. RESULTS: IL6 rs1800795 GG genotype and G allele frequency increased in PCR positive patients compared to PCR-negative patients (p ˂ 0.000). IL6 rs1800795 GC genotype and C allele frequency were lower in PCR-positive patients than in PCR-negative patients. IL6 rs1800795 GG genotype and G allele frequency were higher in asymptomatic patients than in the symptomatic and intensive care unit groups. The IL6 rs1800795 C allele frequency was lower in asymptomatic patients than in the symptomatic and intensive care unit groups. IL6 rs1800795 GG genotype and G allele frequency were higher in CT negative patients than CT positive patients, while IL6 GC genotype and C allele frequency were higher in CT positive patients than negative patients. IL6 level elevation was seen in the asymptomatic patients compared to the symptomatic and intensive care unit groups. CONCLUSIONS: These findings suggest that IL6 rs1800795 may contribute to the susceptibility of COVID-19 in people to Turkish origin. LIMITATIONS: Further large-scale studies in different genetic populations are needed as this is a single-center, prospective study.

Effect of vitamin D receptor gene BsmI polymorphism on hospitalization of SARS-CoV-2 positive patients.

Low vitamin D levels and adverse effects have been reported in SARS-COV-2 positive patients. This study examined the effect of the vitamin D receptor gene BsmI polymorphism on SARS-COV-2 positive patients. A total of 80 SARS-COV-2 positive inpatients were included in the study, and 110 healthy individuals were included as a control group. The 25-(OH) vitamin D3, lymphocyte, and activated partial thromboplastin time levels of SARS-COV-2 positive patients were lower than those of the control group. The prothrombin time (PT), international normalized ratio (INR), D-dimer, C-reactive protein (CRP), procalcitonin, and ferritin levels of SARS-COV-2 positive patients were higher than those of the control group. A negative correlation was found between 25-(OH) vitamin D3 levels and white blood cell count, PT, INR, D-dimer, CRP, procalcitonin, and ferritin levels in SARS-COV-2 positive patients. The 25-(OH) vitamin D3 level in individuals with the BB genotype was higher than the 25-(OH) vitamin D3 level in individuals with the Bb and bb genotype. A statistically significant difference was found between the groups in terms of the genotype and allele distributions of BsmI polymorphism. When the genotypes were analyzed in terms of bb versus Bb + BB, a statistically significant difference was found between the groups. However, this finding was not found between the intensive care inpatient subgroup and the other inpatient subgroup. In conclusion, BsmI b allele and bb genotype were associated with hospitalization for SARS-COV-2 infection. This may be because individuals with b allele have low levels of vitamin D.

Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort.

The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis. The aim of this study is to investigate the risk of developing FMF-related amyloidosis with macrophage migration inhibitory factor (MIF), interleukin 4 (IL-4), and IL-1 receptor antagonist (IL-1RA) variants. This study included 62 FMF patients with amyloidosis, 110 FMF patients without amyloidosis, and 120 controls. The clinical information of the patient groups was compared. MIF-173G/C, IL-4 variant number tandem repeat (VNTR), and IL-1RA VNTR variants were analyzed for all participants. The use of colchicine, pleurisy, and appendectomy was more common in FMF patients with amyloidosis than in FMF patients without amyloidosis. MIF-173G/C C/C genotype and C allele were higher in both patient groups compared to controls. IL-1RA VNTR A1/A2 and A1/A4 genotypes and A1-A4 alleles were more common in both patient groups than controls. The IL-4 VNTR P1 allele was more common in FMF patients with amyloidosis compared to controls. The MIF-173G/C allele and the IL-1RA VNTR A1-A4 allele are associated with FMF in the Turkish population but not with amyloidosis risk in FMF patients. The IL-4 VNTR P1 allele is more common in FMF patients with amyloidosis than in healthy individuals.

Investigation of circadian rhythm gene Per3 in diabetic neuropathy.

PURPOSE: Diabetic neuropathy (DN) is a serious complication of diabetes that affects peripheral and autonomic nerves, and it has been linked to irregularities in circadian rhythm. Several studies have demonstrated that disruptions in circadian rhythm and changes in expression of rhythm genes may play a role in the development and progression of diabetes, including the development of DN. METHODS: In this study, the association between the VNTR polymorphism of the PER3 gene and diabetic neuropathy was investigated. The study included 84 patients with diabetes, 220 patients with diabetic neuropathy, and 218 healthy individuals as the control group. RESULTS: Upon analyzing the data from the study, it was found that there was no significant difference in the PER3 VNTR polymorphism between the diabetic neuropathy patients, diabetes and control groups. However, there was a significant difference observed between the control group and the diabetes group, particularly in terms of the 5/5 genotype and 5 alleles. Moreover, a significant difference was observed between the patient group and the control group (p < 0.05). CONCLUSIONS: In conclusion, first in the world, the relationship between PER3 gene VNTR polymorphism and diabetic neuropathy and diabetes, was investigated. Our results showed that PER3 may be associated with diabetes but not with diabetic neuropathy.

The evaluation of superoxide dismutase 1 gene insertion/deletion variant in athletes.

OBJECTIVE: Regular exercise benefits health by increasing the body's antioxidant defenses. However, excessive exercise can produce excessive reactive oxygen species, which can lead to oxidative stress. Superoxide dismutase is the primary enzyme involved in the elimination of reactive oxygen species. This study aimed to determine the relationship between the SOD1 gene insertion/deletion variant and elite athletes. METHODS: A total of 305 subjects, including 165 elite athletes from different branches and 140 sedentary individuals, participated in this study. The SOD1 insertion/deletion variant was genotyped using polymerase chain reaction. The results were evaluated statistically. RESULTS: There was no statistical significance between the athletes and control groups in terms of SOD1 insertion/deletion genotype distribution and allele frequency. Then, we evaluated the groups as females and males. There were no female athletes carrying the D/D genotype. The SOD1 I/I genotype and the I allele were more prevalent in female athletes than in the control group. There was a significant difference in terms of SOD1 I/I: I/D+D/D in females (p=0.028). SOD1 genotype and allele distribution did not differ between male athletes and male controls. CONCLUSION: As far as we know, this is the first study to evaluate the SOD1 insertion/deletion variant in athletes in Turkey. Our results showed that the SOD1 I allele was more common in female athletes, but not in male athletes.

MEFV gene pathogenic variants: a risk factor for dysmenorrhea in the Turkish population.

BACKGROUND/AIM: The Mediterranean fever (MEFV) gene codes for protein pyrin, which is among the modulators of inflammasome activity in innate immune cells. It was suggested that there is a relation between MEFV variations and inflammatory diseases. The aim of this study was to investigate MEFV gene variations in the patients with primary dysmenorrhea. METHODS: The prevalence of common MEFV gene variations (M694V, M680I, V726A, E148Q and R202Q) was investigated in 145 young women with primary dysmenorrhea and 135 unrelated healthy controls. MEFV gene variations were genotyped using PCR-based RFLP assay. RESULTS: Number of childbirth and marriage were significantly lower in the study group than the controls, respectvely (p < 0.001, p = 0.001). Family history was statistically higher in the patient group (p < 0.001). In total, MEFV genotype and allele frequencies were significantly higher in patients than controls, respectively (p = 0.008 and p = 0.005, respectively). It was found that MEFV gene E148Q allele was more common in patient group (p = 0.039). MEFV R202Q A allele was higher in the patients than the controls (p = 0.045). A significant association was observed when the patients were compared with the controls according to R202Q variant AA versus GG+GA genotypes (p=0.020). CONCLUSION: Our findings suggest that MEFV variations may be a risk factor for patients with dysmenorrhea in a Turkish cohort.HighlightsThere are very few studies in the literature regarding the relationship between pathological variants of MEFV and dysmenorrhea disease.The common MEFV mutations/variants were evaluated in primary dysmenorrhea patients.Family history was statistically higher in the patient group (p <.001).MEFV gene variations were found 52 (35.9%) in patients and 29 (21.5%2) in controls.MEFV gene allele frequency was significantly higher in-patient group than control (p =.005).

Lack of association between VNTR variant of the circadian gene (PER3) and major depressive disorder in a sample of a Turkish population.

Major depressive disorder (MDD), which is a prevalent psychiatric disorder, is characterized by sleep-wake disturbances. An underlying circadian rhythm disorder mainly may cause these disturbances. The study presented here was designed to investigate the existence of Period Circadian Regulator 3 (PER3) gene VNTR variant in MDD patients in Turkish population. A sample of 118 patients with MDD and 150 healthy volunteers were included in the study. The PER3 VNTR genotyping was performed on DNA by polymerase chain reaction (PCR) using specific primers. The prevalence rates of genotypes of 5/5, 5/4, and 4/4 profiles for the PER3 variant were 30.5%, 55.9%, and 13.6%, respectively, in patients with MDD, and 23.3%, 57.3%, and 19.3%, respectively in the control group. No significant difference was observed between the two groups in terms of either genotype distributions or allele frequencies of the VNTR variant of the PER3 gene (p > 0.05). There was no statistically significant association between the patients and the controls in terms of 5/5 + 4/5 versus 4/4 and 5/5 versus 4/5 + 4/4 (p > 0.05). The present results suggest that the PER3 VNTR variant was not associated with MDD in the Turkish population. However, further studies with other gene variants in different ethnic populations are needed to address the exact role of this variant in MDD.

VEGF I/D variant and preeclampsia risk in Turkish women: a case-control study.

Preeclampsia (PE) is a systemic vascular disorder, is caused by an imbalance of pro- and anti-angiogenic factors that directly affect endothelial function. Vascular endothelial growth factor A (called VGF), a pro-angiogenic factor associated with endothelial dysfunction, plays an important role in the pathophysiology of PE. Therefore, we investigated the relationship between -2549 insertion/deletion (I/D) variant in the VEGF promoter region and PE in pregnant women in Turkey. A total of 100 patients diagnosed with PE and 118 healthy pregnants were recruited. To genotype the VEGF I/D variant, the PCR method was used. The results of analyses were evaluated for statistical significance. The weight of the PE group was found to be higher before and after pregnancy than the control group (p = 0.009, p = 0.012, respectively). The birth weight, and Apgar score (1 min and 5 min) of the PE group was lower than that of the control group (p= <0.001, p= <0.001, p= <0.001, respectively). The mean 24-h urine protein, ALT and AST levels in the PE group were higher than the control group (p= <0.001, p= <0.001, p= <0.001, respectively). There was no significant difference between the patients and the controls in terms of VEGF I/D genotype and allele distribution. There was no deviation from HWA for VEGF I/D variant in patient and control groups. In the patients carrying D/D genotype and the D allele had low gestational week and birth weight. Knowing the risk factors for PE is very important for its prevention and treatment. In conclusion, for the first time, our results supported that the VEGF I/D variant is not a risk factor for the development of PE in a group of Turkish populations. But VEGF I/D variant D/D genotype associated with low gestational week and birth weight while I/D genotype seems to be protective from high systolic blood pressure.

The effect of RORA (RAR-Related Orphan Receptor Alpha) receptors on litter size in Akkaraman sheep breed.

In this study, the relationship between RORA 23bp indel genotype and allele frequency with twin pregnancy, fertility, live weight and milk yield in 106 female Akkaraman ewes raised in Elazig province was investigated. In the study conducted in Elâzig province, 10ml milk was collected from 106 Akkaraman sheep and DNA was extracted from these milk. In RORA 23bp indel genotype frequency, DD genotype was found more than ID and II genotypes and RORA 23bp indel in allele frequency, the D allele was found to be higher than the I allele. In both the first and second parity, the twinning rate was found to be lower. In both the first and second parity, the twinning rate was higher in the DD genotype, and it was observed that this genotype prominated middle livestock weight and milk yield. According to the results of our study, mutations in the RORA gene, which is a gene affecting reproductive efficiency in sheep, do not have a positive effect on fertility and twinning rate in Akkaraman sheep. To sum, this study provided theoretical references for the comprehensively research of the function of RORA gene and the breeding of Akkaraman Sheep. The 23-bp indel variants can be considered as molecular markers for litter size of sheep for marker-assisted selection breeding.

Vascular endothelial growth factor gene insertion/deletion polymorphism is associated with Vitamin D level in Turkish patients with coronavirus disease 2019.

OBJECTIVE: Coronavirus disease 2019 emerges as a disease caused by severe acute respiratory syndrome coronavirus 2. It is a systemic disease associated with vascular inflammation and endothelial damage. In this study, we aimed to investigate whether vascular endothelial growth factor gene insertion/deletion polymorphism is associated with coronavirus disease 2019 in the Turkish population. METHODS: The study included 179 participants (79 patients with coronavirus disease 2019 and 100 controls). DNA isolation was made from peripheral blood, and then the polymerase chain reaction analysis was performed. RESULTS: When we analyze vascular endothelial growth factor gene insertion/deletion polymorphism in the study group, we found that the DD genotype and D allele were found to be statistically significantly different when compared to coronavirus disease 2019 patients with high vitamin D value (p=0.005 for DD genotype and p=0.006 for D allele) in the control group. In this high-level control group, when we analyze II+ID genotype versus DD, a statistically significant difference was also detected (p=0.007). CONCLUSION: As a result of the study, we found that DD genotype and D allele were associated with vitamin D level in Turkish patients with coronavirus disease 2019.

Dual effect of methylene-tetrahydrofolate reductase and angiotensinconverting enzyme gene polymorphisms on the risk of acute ischemic stroke.

Ischemic stroke, a prevalent neurological disease, is the major reason of serious disability and death worldwide. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms increase homocysteine levels which also raise the risk of vascular diseases. Angiotensin-converting enzyme (ACE) gene polymorphisms can cause vascular reorganization and disrupt arterial wall stability. The aim of this study was to explore how the MTHFR and ACE gene polymorphisms are related to acute ischemic stroke. A total of 200 individuals (102 acute ischemic stroke patients and 98 healthy controls) were included in this case-control research. MTHFR gene C677T (rs1801133) and A1298C (rs1801131) polymorphisms were studied through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays, ACE gene I/D polymorphism (rs1799752) was studied by PCR. The MTHFR C667T and ACE I/D polymorphisms did not show any statistically meaningful differences between healthy controls and acute ischemic stroke patients (P>0.05). However, compared to healthy controls, acute ischemic stroke patients had almost nine-fold higher prevalence of the CC genotype based on the MTHFR A1298C polymorphism (P=0.024, OR=8.8, 95%Cl=1.27-208.2). Additionally, individuals with acute ischemic stroke had greater frequencies of the combined genotypes of MTHFR and ACE gene polymorphisms in the forms of CC/CC (C667T/A1298C), CC/ DD (A1298C/ACE I/D) and CC/CC/DD (C677T/A1298C/ACE I/D) (P = 0.027, P = 0.015 and P = 0.037, respectively). A statistically significant correlation was assessed between MTHFR gene A1298C polymorphism and acute ischemic stroke. Additionally, it was discovered that the genotype combinations of CC/CC (C667T/A1298C), CC/DD (A1298C/ACE I/D) and CC/CC/DD (C677T/A1298C/ ACE I/D) have risk-increasing effects on acute ischemic stroke. To employ these genetic variations as alternative treatments for ischemic stroke, these findings should be validated by more research.

Lack of association of superoxide dismutase I/D variant with osteopenia/osteoporosis in Turkish postmenopausal women.

BACKGROUND: Osteoporosis (OP) is a common systemic, metabolic bone disease that affects 40% of postmenopausal women. Oxidative stress (OS) ìs caused by reactive oxygen species (ROS), inhibits osteoblast differentiation and causes apoptosis in osteoblastic cells. Superoxide dismutase (SOD) reduces OS by playing a role in the reduction and defense of intracellular ROS. Therefore, the purpose of this study was to investigate the relationship between osteopenia/OP and the SOD1 50-bp insertion/deletion (I/D) variant in Turkish postmenopausal women. METHODS: A total of 180 women participated in this study includá¸-ng 89 osteopenia/OP postmenopausal women and 91 healthy postmenopausal women. T-score > -1 standard deviation (SD) defined normal bone mass, T-score between -1 and -2.5 SD defined osteopenia, T-score ≥ -2.5 SD was defined as OP. DNA was extracted from all subjects and the SOD1 I/D variant genotyped by PCR. The results of the analyses were evaluated for statistical significance. RESULTS: The mean age of 89 osteopenia/OP patients aged 45 to 74 was 58.57 ± 6.57. There was no D/D homozygous genotype in the patient and control groups. The prevalence of genotypes of I/I, and I/D, profiles for the SOD1 I/D variant were 76.4%, and 23.6% respectively, in patients, and 72.5%, and 27.5% respectively, in the control group. When the patient group and control group were compared, the SOD1 I/D genotype distribution and allele frequencies did not show a significant difference between the groups (p > 0.05). CONCLUSION: Our results showed that the SOD1 I/D variant may not be considered a determining factor in the development of osteopenia/OP in a Turkish population sample. However, ethnic differences, gene-gene, and gene-environment interactions should not be ignored.

Association of ACE ID, MTHFR C677T, and MIF-173GC variants with the clinical course of COVID-19 patients.

The course of coronavirus disease-2019 (COVID-19) differs from person to person. The relationship between the genetic variations of the host and the course of COVID-19 has been a matter of interest. In this study, we investigated whether Angiotensin-Converting Enzyme (ACE) ID, Methylenetetrahydrofolate Reductase (MTHFR) C677T, and Macrophage Migration Inhibitory Factor (MIF)-173GC variants are risk factors for the clinical course of COVID-19 disease in Turkish patients. One hundred COVID-19 patients were included in the study. The diagnosis of COVID-19 was made using Reverse Transcription Polymerase Chain Reaction (RT-PCR) and Chest Computed Tomography (CT). The patients were evaluated in 3 groups: intensive care, service, and outpatient treatment. ACE ID, MTHFR C677T, and MIF-173GC variants were genotyped by PCR-Restriction Fragment Length Polymorphism (RFLP) methods. When the genotype distribution between the groups was examined, it was found that the frequency of the ACE DD genotype and the D allele was higher in the intensive care group compared to the hospitalized and outpatient groups. MTHFR C677T CT genotype T allele and MIF-173GC, CC genotype C allele were more prevalent in the intensive care group compared to other groups. Patients with PCR-positive results had a higher MTHFR C677T C/C genotype and C allele. In CT-positive patients, the MTHFR C677T CT genotype and the MIF-173GC, G allele were more common. It is predicted that genetic predisposition may contribute to COVID-19 morbidity and mortality. Our results show that ACE ID, MTHFR C677T, and MIF-173GC variants affect the course of COVID-19 disease in the Turkish population.

Impact of methylene-tetrahydrofolate reductase gene C677T and A1298C polymorphisms as a risk factor for hepatitis B virus infection.

Chronic hepatitis B infection caused by Hepatitis B virus (HBV), influences over two billion people worldwide despite having an effective vaccine. With a total prevalence of 4.57%, there are 3.3 million estimated HBV carriers in Türkiye. Methylene-tetrahydrofolate reductase (MTHFR) arrange folate metabolism through nucleic acid synthesis and DNA methylation. C677T (rs1801133, p.Ala222Val) and A1298C (rs1801131, p.Glu429Ala) polymorphisms of MTHFR gene have effect of reducing the activity of enzyme. We purposed to investigate the correlation between C677T and A1298C polymorphisms of MTHFR gene with HBV infection in a Turkish population. One hundred eighteen HBV-infected participants and ninety healthy controls were incorporated in this research. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was applied to discover the genotypes of MTHFR polymorphisms. We demonstrated that T allele and CT + TT genotype frequencies of C677T polymorphism were significantly increased in HBV-infected participants than healthy controls [p = 0.015, OR (95% Cl) = 1.7 (1.11-2.79) and p = 0.020, OR (95% Cl) = 1.9 (1.10-3.42), respectively). No significant associations were noted concerning the A1298C polymorphism (p > 0.05). CC-AA composite genotype was observed to be significantly elevated in healthy controls than HBV-infected participants (32.2% vs. 13.6%, p = 0.001). In addition, the frequency of T-C haplotype was found to be considerably higher in the patient group than control group (15.8% vs 11.8%, p = 0.018). In conclusion, we found that T allele of C677T polymorphism poses a risk factor for HBV infection. We also discovered a protective impact of the CC-AA composite genotype against HBV infection and a risk effect of the T-A haplotype for HBV-infection.

Clock 3111 T/C and Period3 VNTR gene polymorphisms and proteins, and melatonin levels in women with infertility.

PURPOSE: One of the causes of infertility is circadian rhythm disorders. This study aimed to investigate Clock 3111 T/C and Period3 VNTR (variable number tandem repeat) gene polymorphisms and these gene proteins, some biochemical parameters, and circadian rhythm hormones in infertile women. METHODS: Thirty-five infertile women and thirty-one healthy fertile women were included. Blood samples were taken in the mid-luteal phase. DNAs obtained from peripheral blood were analyzed using polymerase chain reaction-restriction fragment length polymorphism methods. Follicle-stimulating hormone, LH (luteinizing hormone), estradiol, prolactin, free triiodothyronine, fT4 (free thyroxine), thyroid-stimulating hormone, testosterone, cortisol, progesterone, prolactin, ferritin, vitamin B12, and folate levels in serum samples were determined by the electrochemiluminescence immunoassay method. Melatonin, Clock, and Period3 protein levels were determined with ELISA kits. RESULTS: There was a significant difference in the frequency of Period3 DD (Per34/4) genotype between the groups. The Clock protein level of the infertile group was higher than the fertile group. Clock protein levels of the fertile group were positively correlated with estradiol levels and negatively correlated with LH, prolactin, and fT4 levels. PER3 protein levels of the infertile group were negatively correlated with LH levels. Melatonin levels of the fertile group were positively correlated with progesterone levels and negatively correlated with cortisol levels. Melatonin levels of the infertile group were positively correlated with LH levels and negatively correlated with cortisol levels. CONCLUSION: Per34/4 genotype may be an independent risk factor in infertile women. Different correlation results found in fertile and infertile women can form the basis for future studies.

Association of eNOS gene 4a/4b VNTR and T786C polymorphism with Crimean-Congo hemorrhagic fever.

The most common viral hemorrhagic fever is Crimean-Congo hemorrhagic fever (CCHF). Endothelial nitric oxide synthase (eNOS) gene polymorphisms have been linked to both hemorrhagic fevers and viral diseases. The study's goal is to evaluate if the eNOS gene 4a/4b and T786C polymorphisms are related to CCHF. The study included 54 CCHF RNA-positive patients and 60 control subjects. The Bosphore CCHF virus Quantification Kit v1 was used to obtain CCHF RNA, and the Magnesia 16 isolation device was used to isolate DNA (Anatolia Gene works, Turkey). Polymerase chain reaction and restriction fragment length polymorphism were used to genotype the samples. The frequency of the eNOS 4a/4a, 4a/4b, and 4 b/4b genotypes in patients and the control was 6.6% versus 1.7%, 37.0% versus 43.3%, and 57.4% versus 55%, respectively. 4a: 24.07% of patients and 23.33% of controls; and 4 b: 75.92% of patients and 76.66% of controls. The frequency of the eNOS-786 T/C, T/T, T/C, and C/C genotypes in patients and the control group was 35.2% versus 68.3%; 51.9% versus 26.73%; and 13.0% versus 5.0%, respectively. The allele and genotype frequencies of the eNOS T786C variant differ statistically between patients and the control (p < 0.05). The eNOS T786C variant could be a genetic determinant for susceptibility to CCHF. To our knowledge, this is the first study to figure out the association between eNOS gene T786C polymorphisms and CCHF disease.