Endothelial nitric oxide synthase G894T, intron 4 VNTR, and T786C polymorphisms in retinopathy of prematurity

2021 ◽  
pp. 1-7
Author(s):  
F. Tekkeşin ◽  
M. Yurdakok ◽  
E. Gumus ◽  
M.O. Babaoglu ◽  
A. Bozkurt ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Birth Weight ◽  
Retinopathy Of Prematurity ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Enos Gene ◽  
Genotype Distribution ◽  
Functional Polymorphisms ◽  
Significant Difference ◽  
Intron 4

BACKGROUND: Our objective in this study was to assess the association between eNOS gene, that achieves synthesis of nitric oxide especially in the endothelial cells known to have an important role in angiogenesis and vasculogenesis, G894T, intron 4 VNTR (27-bp repeat) and T786C functional polymorphisms and retinopathy of prematurity (ROP), which is an important cause of morbidity in premature or low birth weight babies. METHODS: A total of 139 babies who were followed up in our neonatal intensive care unit because of premature birth in our hospital or admitted to our unit. 69 of them had retinopathy of prematurity and comprised the patients group. The remaining 70 babies who did not have ROP comprised the control group. An additional of 1 ml of blood samples were drawn from babies who were in the study groups during routine laboratory analysis. eNOS gene polymorphisms were determined by using polymerase chain reaction method. RESULTS: eNOS G894T, intron 4 VNTR and T786C gene polymorphisms did not differ between the patient and control groups (p >  0.05). Using logistic regression analysis; while gender did not differ between two groups; gestational age, birth weight, time on mechanical ventilation differ between two groups. After adjustment for variables other than eNOS gene polymorphisms, we found no significant difference in the genotype distribution of eNOS G894T, intron 4 VNTR and T786C polymorphisms (p >  0.05). CONCLUSION: We observed no association between ROP and eNOS gene polymorphisms but needs more investigation.

scholarly journals Analysis of T-786C and 4a/b endothelial nitric oxide synthase gene polymorphisms in retinopathy of prematurity

Genetika ◽  
2016 ◽  
Vol 48 (2) ◽  
pp. 707-716 ◽  
Author(s):  
Jelica Pantelic ◽  
Tatjana Varljen ◽  
Nela Maksimovic ◽  
Biljana Jekic ◽  
Ana Oros ◽  
...  
Keyword(s):  
Risk Factors ◽  
Preterm Infants ◽  
Gestational Age ◽  
Retinopathy Of Prematurity ◽  
Gene Polymorphisms ◽  
Linear Regression Analysis ◽  
Control Group ◽  
Enos Gene ◽  
Multivariate Linear Regression Analysis ◽  
Significant Difference

Retinopathy of prematurity (ROP) is a vascular proliferative disorder of retina, that causes visual impairment in premature children. Beside well known risk factors such as short gestational age, low birth weight and early oxygen exposure, genetic susceptibility is considered as a risk factor for development of the disease. The aim of our study was to explore the association of T-786C and 4a/b eNOS gene polymorphisms with the development of severe ROP. Study included 174 preterm infants, 84 with ROP and 90 as a control group. No differences have been observed in genotypes and alleles distributions of eNOS T-786C and eNOS 4a/b polymorphisms between two analyzed groups. There was significant difference in female infants by dominant model for 4a/b genotypes (4bb/4ba+4aa). Namely, female infants in ROP group were more frequently carriers of 4ba and 4aa genotypes than female infants in control group (p=0.037). Analysis of association between 4a/b eNOS polymorphism and ROP among preterm infants have not shown statistically significant association (p=0.288). Gestational age values by recessive model (4bb+4ba/4aa) were significantly lower in infants with 4aa genotype (t=2.034 p=0.044). Almost all detected 4aa genotypes were present in the group of infants with gestational age under 30 weeks (p=0.032), but multivariate linear regression analysis does not show association of 4a/b genotypes with gestational age of premature infants. According to results of the present study T-786C and 4a/b polymorphisms of the eNOS gene may not be the risk factors for the manifestation of severe ROP in Serbian infants.

scholarly journals NO Level and Endothelial NO Synthase Gene Polymorphism (Glu298Asp) in the Patients with Coronary Artery Disease from the Turkish Population

2004 ◽  
Vol 36 (10) ◽  
pp. 661-666 ◽  
Author(s):  
Lale Afrasyap ◽  
Guler Ozturk
Keyword(s):  
Nitric Oxide ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Gene Polymorphism ◽  
Turkish Population ◽  
Control Group ◽  
Enos Gene ◽  
Nitric Oxide Level ◽  
Significant Difference ◽  
Artery Disease

Abstract Nitric oxide is synthesized from L-arginine by endothelial nitric oxide synthase encoded by eNOS gene. This study was performed to investigate the relationship between the serum nitric oxide level and eNOS gene polymorphism in the Turkish population with angiographically diagnosed coronary artery disease (63.47 ± 9.10 years old, n=250) and control subjects without any history and/or risk factors of coronary artery disease (60.71 ± 9.14 years old, n=150). Griess assay and PCR-RFLP analysis were used to measure the serum nitric oxide metabolites and genotypes, respectively. It was found that Glu/Glu, Glu/Asp and Asp/ Asp genotype frequencies of the eNOS were 49.3%, 41.3% and 9.3% respectively in the control group, and 45.6%, 41.2% and 13.2% in the patient group. Serum nitric oxide levels were (32.56 ± 17.26) μM in controls and (29.84 ± 11.88) μM in patients. Neither the frequencies of the Glu298Asp genotypes nor the serum nitric oxide levels showed a significant difference between the groups. There was also no correlation between serum nitric oxide levels and the frequencies of the eNOS genotypes. Result showed that the coronary artery disease of the Turkish population seemed to develop without any alterations in eNOS Glu298Asp genotype frequency and the serum nitric oxide level.

scholarly journals The Effect of Phosphodiesterase Type 5 Inhibitors on the Development of Retinopathy of Prematurity in Imam Khomeini Hospital's, Ahvaz, Iran Preterm Infants: A Randomized Clinical Trial

2019 ◽  
pp. 1-9
Author(s):  
Masoud Dehdashtian ◽  
Mostafa Feghhi ◽  
Mohammad Reza Aramesh ◽  
Arash Malakian ◽  
Mohammad Reza Abbaspour ◽  
...  
Keyword(s):  
Placebo Group ◽  
Birth Weight ◽  
Premature Infants ◽  
Retinopathy Of Prematurity ◽  
Phase 1 ◽  
Extremely Low Birth Weight ◽  
Control Group ◽  
Case Group ◽  
Phosphodiesterase Type 5 Inhibitors ◽  
Significant Difference

Background: Retinopathy of prematurity (ROP) affects premature infants, and it is characterized by the development of vascular proliferation due to hyperoxia, down regulation of Vascular endothelial growth factor(VEGF) and death of endothelial cells. We hypothesized that inhibition of Phosphodiesterase 5 enzyme suppresses retinal vasoconstriction and prevent ROP. Study Design: 109 newborns with respiratory distress syndrome treated with oxygen with early gestational age (GA) ≤30 weeks and birth weight (BW) ≤1500 g were randomized into two groups, 52 patients in sildenafil and 50 patients in placebo group were studied, Group sildenafil (as case group) and placebo Group (as control group), sildenafil was administered via nasogastric tube. Occurrence of ROP phase 1 as primary outcome and stage 2-5 ROP, duration of mechanical ventilation, oxygen therapy and duration of hospitalization as secondary outcomes were assessed. Results: There was no differences between the two group in demographic characteristics. ROP phase 1 was seen in 11(22%) and 7(14%) of placebo and interventional group, respectively. Stage 3 ROP was not seen in any of the patients. Conclusion: Sildenafil therapy did not affect ROP development in premature infants treated with oxygen. May be due to our exclusion criteria (BW less than 1000g) and this fact that there is a high incidence of ROP in extremely low birth weight neonates, we didn’t find any significant difference. More studies with larger population and expanded criteria are needed to find the effect of sildenafil on ROP.

Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

2020 ◽  
Vol 21 ◽  
Author(s):  
Elli Anagnostou ◽  
Alexia Kafkoutsou ◽  
Despina Mavrogianni ◽  
Ekaterini Domali ◽  
Evangelia Dimitroulia ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Ovarian Response ◽  
Greek Population ◽  
Control Group ◽  
Genotype Distribution ◽  
Β Subunit ◽  
Molecular Genetic Study ◽  
The Impact ◽  
First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

scholarly journals Analysis of Human Bradykinin Receptor Gene and Endothelial Nitric Oxide Synthase Gene Polymorphisms in End-Stage Renal Disease Among Malaysians

2014 ◽  
Vol 17 (1) ◽  
pp. 37-40 ◽  
Author(s):  
Vasudevan R. ◽  
Ismail P. ◽  
Jaafar N.I. ◽  
Mohamad N.A. ◽  
Etemad E. ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
End Stage Renal Disease ◽  
Endothelial Nitric Oxide Synthase ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Enos Gene ◽  
Stage Renal Disease ◽  
End Stage ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

Abstract The aim of this study was to determine the association of the c.894G>T; p.Glu298Asp polymorphism and the variable number tandem repeat (VNTR) polymorphism of the endothelial nitric oxide synthase (eNOS) gene and c.181C>T polymorphism of the bradykinin type 2 receptor gene (B2R) in Malaysian end-stage renal disease (ESRD) subjects. A total of 150 ESRD patients were recruited from the National Kidney Foundation’s (NKF)dialysis centers in Malaysia and compared with 150 normal healthy individuals. Genomic DNA was extracted from buccal cells of all the subjects. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was carried out to amplify the products and the restricted fragments were separated by agarose gel electrophoresis. Statistical analyses were carried out using software where a level of p <0.05 was considered to be statistically significant. The genotypic and allelic frequencies of the B2R gene (c.181C>T, 4b/a) and eNOS gene (c.894G>T) polymorphisms were not statistically significant (p >0.05) when compared to the control subjects. The B2R and eNOS gene polymorphisms may not be considered as genetic susceptibility markers for Malaysian ESRD subjects.

scholarly journals Effects of nano mineral-supplemented diet on sow productivity

2019 ◽  
Vol 41 (4) ◽  
Author(s):  
Hoang Nghia Son
Keyword(s):  
Birth Weight ◽  
Reproductive Performance ◽  
Metal Content ◽  
Mineral Content ◽  
Control Group ◽  
Average Weight ◽  
Group Iii ◽  
Newborn Piglets ◽  
Group I ◽  
Significant Difference

This study aimed to evaluate the effects of nano mineral-supplemented diet on sow productivity. The data were estimated by several parameters consisting of piglet live ratio at newborn stage and weaning stage, piglet weight at newborn stage and weaning stage, metal content in piglet livers. The results showed that live ratio of newborn piglets in group III was highest (93.44 ± 2.83%) comparing with other groups. However, there was no significant difference of live ratio in piglets at weaning stage between nano mineral-supplemented groups with control. The birth weight of piglets in nano mineral-supplemented groups was similar to control group. The birth weight of piglets in nano mineral-supplemented groups was ranged from 1,361.61 ± 47.37 grams (group II) to 1,410.48 ± 44.28 grams (group I). However, the average weight of weaned pigs in groups III and IV was higher than other groups (6,772.92 ± 105.47 grams and 6,818.87 ± 89.59 grams). Moreover, the amount of Fe, Cu, Zn, Mn in piglet liver from nano mineral-supplemented groups have been found to be lower than those in control group. These results revealed that the supplement of nano minerals for sows promoted the reproductive performance of sows and reduced mineral content in the liver of piglets. 

scholarly journals An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Saneipour ◽  
Abdolkarim Sheikhi ◽  
Abbas Moridnia
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Allele Frequency ◽  
Genetic Alterations ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Estrogen Receptor 1

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

2021 ◽  
Vol 32 (2) ◽  
pp. 79-84
Author(s):  
Kevin Owen ◽  
Siti Syarifah ◽  
Mutiara Indah Sari
Keyword(s):  
Breast Cancer ◽  
Oxidative Stress ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Healthy Control Group ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Healthy Control

Background: Oxidative stress induced cancer cell formation. Gene polymorphism plays roles in carcinogen metabolism, antioxidant and DNA repairing pathway was susceptibility to oxidative stress. This study aim to determine the association between CAT-21 A/T polymorphism with breast cancer susceptibility. Methods: Case control study was conducted on 65 breast cancer patient and 65 healthy control group. The whole blood samples were isolated from 65 breast cancer patients in Haji Adam Malik General Hospital Medan and 65 healthy control group. The CAT-21A/T polymorphism was analyzed by PCR-RFLP procedure. PCR-RFLP product was electrophoresed and visualized in agarose 4%. Results:The AA CAT-21 genotype were lower in breast cancer (BC) than healthy control (HC) group (31/47.7% vs 40/61.5%), in the contrary AT+TT genotype was greater in BC than HC group (34/52.3% vs 25/38.5%) with (p=0.159, OR=1.755, CI=0.874–3.525). A allele CAT-21 were found lower in BC than HC group (89/68.5% vs 105/80.8%) then T allele were greater in BC than HC group (41/31.5% vs 25/19.2%) with (p=0.033, OR=1.935;CI=1.022-3.428). Conclusions: There was significant difference in allele distribution of CAT-21 A/T between case and control group but no in genotype distribution. In this population study showed that allele of CAT -21 A/T polymorphism could represent as a risk factor to breast cancer. Bangladesh J Medicine July 2021; 32(2) : 79-84

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