Rs1799983 Polymorphism Research Articles

Interaction of CETP rs708272 Polymorphism on Trans Fatty Acid Intake and Glucose Metabolism Markers.

Dietary fats influence gene expression and several metabolic pathways. Therefore, it is crucial to study the role of personal genotypes in the interaction between fat consumption and cardiometabolic markers. This research aimed to determine the interaction of the rs708272 polymorphism of CETP and the fatty acid intake with changes in the HOMA-IR in adults living with overweight or obesity. The current study was a secondary analysis of an 8-week controlled clinical trial. The final sample for this analysis comprised 78 Mexican adults with the Cholesteryl Ester Transfer Protein (CETP) rs708272 polymorphism who followed a dietary intervention. Using an interaction analysis, we evaluated the fatty acid intake and the genotypes of rs708272, with changes in blood glucose, insulin, and the HOMA-IR from baseline to endpoint. Our findings suggest a significant interaction between the trans fatty acid intake and the GG genotype with changes in glucose (p = 0.024), insulin (p = 0.004), and the HOMA-IR (p = 0.002). The higher the consumption of trans fatty acids, the less these markers of glucose metabolism were reduced. carriers of the GG genotype may benefit from limiting dietary trans fatty acid intake, as there was no reduction in plasma glucose and insulin despite a hypocaloric dietary intervention in adults with overweight and obesity.

Single Nucleotide Polymorphisms and Tendon/Ligament Injuries in Athletes: A Systematic Review and Meta-analysis.

This systematic review and meta-analysis aimed to identify the association between genetic polymorphisms and tendon and ligament injuries in adolescent and adult athletes of multiple competition sports. The PubMed, Web of Science, EBSCO, Cochrane Library, and MEDLINE databases were searched until July 7, 2023. Eligible articles included genetic studies on tendon and ligament injuries and comparisons between injured and non-injured athletes. This review included 31 articles, comprising 1,687 injury cases and 2,227 controls, from a meta-analysis of 12 articles. We identified 144 candidate gene polymorphisms (only single nucleotide polymorphisms were identified). The meta-analyses included vascular endothelial growth factor A (VEGFA) rs699947, collagen type I alpha 1 rs1800012, collagen type V alpha 1 rs12722, and matrix metalloproteinase 3 rs679620. The VEGFA rs699947 polymorphism showed a lower risk of injuries in athletes with the C allele ([C vs. A]: OR=0.80, 95% CI: 0.65-0.98, I 2 =3.82%, p=0.03). The risk of these injuries were not affected by other polymorphisms. In conclusion, the VEGFA rs699947 polymorphism is associated with the risk of tendon and ligament injuries in athletes. This study provides insights into genetic variations that contribute to our understanding of the risk factors for such injuries in athletes.

Features of prooxidant/antioxidant balance disorders in patients with diabetic nephropathy — carriers of different genotypes of G894T polymorphism of eNOS gene

Objective — to determinate the state of prooxidant‑antioxidant balance in patients with type 2 diabetes mellitus with nephropathy — carriers of different genotypes of G894T (rs 1799983) polymorphism of eNOS gene. Materials and methods. 126 patients with diabetic nephropathy (DN) were examined. The control group included 20 healthy individuals. Patients with type 2 diabetes mellitus (DM) were divided into two groups depending on the eNOS rs 1799983 gene polymorphism: group I — patients with DN and G/G genotype eNOS G894T gene (n=80); group II — patients with DN and G/T and T/T genotypes eNOS G894T gene (n=46). Results. The distribution of genotypes of the rs1799983 polymorphism of the eNOS gene corresponded to the Hardy‑Weinberg equilibrium. Data analysis demonstrated a significant difference in the frequency of occurrence of genotypes and alleles of the studied polymorphism in the group of patients with DN compared with controls, which corresponds to the dominant model of inheritance (odds ratio 0.31 (95% confidence interval 0.09—0.99), p=0.045). There were significant gender differences in the frequency of genotypes and alleles of the studied polymorphism in the group of patients with type 2 DM with DN: women had a significantly lower risk of the G/T polymorphism genotype than men. The study of total antioxidant activity (TAA) revealed significantly lower values of this parameter in patients with G/G genotype of the rs1799983 polymorphism of the eNOS gene compared to carriers of the T allele (G/T+T/T genotypes). In diabetic patients with different genotypes of the rs1799983 polymorphism of the eNOS gene, the levels of total hydroperoxides (THP) did not differ significantly. Homozygous and heterozygous carriers of the T allele of the rs1799983 polymorphism of the eNOS gene had a significant increase in the prooxidant‑antioxidant balance. Conclusions. In patients with DN, the distribution of genotypes of the G894T polymorphism (rs 1799983) of the eNOS gene corresponds to the Hardy‑Weinberg equilibrium in all studied groups and does not differ significantly from European populations. In men, the risk of having a heterozygous G/T genotype of the G894T (rs 1799983) polymorphism of the eNOS gene is 3 times higher than in women (according to the dominant model of inheritance, odds ratio 0.41 (95% confidence interval 0.20—0.83), p=0.013). In carriers of G/T and T/T genotypes, a significant increase in prooxidant‑antioxidant balance was observed against the background of a decrease in total antioxidant activity, compared with carriers of G/G genotype (p<0.05).

<i>CDKN2B-AS1</i> polymorphism rs1333049 is associated with advanced carotid artery atherosclerosis in a Slovenian population

Several studies have reported an association between the 9p21 region in the human genome and atherosclerosis. The rs1333049 polymorphism is a single nucleotide polymorphism (SNP) in CDKN2B-AS1, located in the 9p21 region. The aim of our study was to investigate the association between the rs1333049 polymorphism and advanced carotid atherosclerosis, as well as its effect on CDKN2B expression in endarterectomy sequesters. In our case-control study, we included 881 participants, divided into two groups. The case group comprised 308 participants with advanced atherosclerosis of the internal or common carotid artery (stenosis > 75 %) who underwent a revascularization procedure. The control group included 573 participants without hemodynamically significant carotid atherosclerosis. We analyzed the rs1333049 polymorphism using the StepOne real-time polymerase chain reaction (PCR) and TaqMan SNP genotyping assay. We found a statistically significant association according to the co-dominant (P=0.014, OR=3.29, 95% CI: 1.32-8.91, and P=0.015, OR=2.50, 95% CI: 1.22-5.37) and dominant (P=0.006, OR=2.74, 95% CI: 1.36-5.71) models. We performed immunohistochemical analysis of CDKN2B expression on 26 endarterectomy sequesters. The C allele of rs1333049 was associated with a lower numerical area density of CDKN2B-positive cells in atherosclerotic plaques. In conclusion, the C allele of the rs1333049 SNP is associated with an increased risk of developing advanced carotid atherosclerosis and lower CDKN2B expression in the plaques.

The effect of dulaglutide on glycated hemoglobin is associated with PNPLA3 Ι148Μ gene polymorphism in patients with type 2 diabetes mellitus.

The evaluation of the effect of dulaglutide on glycated hemoglobin (HbA1c) and non-invasive indices of hepatic steatosis among different genotypes of the PNPLA3 I148M (rs738409) and CETP Taq1B (rs708272) polymorphisms in patients with type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease (NAFLD). Relevant data from patients with inadequately controlled T2DM, also displaying NAFLD, administered 1.5 mg dulaglutide weekly for 6 months were retrospectively retrieved. The non-invasive indices, fatty liver index (FLI) and hepatic steatosis index (HSI), were calculated. Genotyping for rs738409 and rs708272 were performed with polymerase chain reaction. Data from 80 patients (39 females), aged 64.4 ± 9.5 years and displaying a baseline BMI of 34.5 ± 5.8 kg/m2, were retrieved at baseline and after 6 months (endpoint) of dulaglutide treatment. Glycated hemoglobin (HbA1c; -0.72 ± 1.10%; p < 0.001), FLI (-5.8 ± 9.8; p < 0.001) and HSI (-1.18 ± 3.51; p = 0.004) significantly decreased after treatment. Lipid profile and liver function tests also improved after treatment. Overall, homozygotes for the reference rs738409 allele (CC) displayed a 2.4-fold decrease (p = 0.002) and heterozygotes (CG) an 1.6-fold decrease (p = 0.013) compared to GG homozygotes after treatment, but the effect was largely limited to female patients. No similar effect was observed in FLI, HSI and other relevant parameters. No association was observed between rs708272 and any of the parameters studied. rs738409, but not rs708272, was associated with the effect of dulaglutide on HbA1c, but not on presumed hepatic steatosis or other relevant parameters. Sex-specific effects were also noticed.

The role of NOS3-rs1799983 and NOS3- rs2070744 SNP in occurrence of avascular necrosis as a post COVID-19 complication

Avascular necrosis (AVN) is a debilitating condition characterized by bone tissue death due to inadequate blood supply, leading to joint dysfunction and collapse. This study investigates the potential association between AVN and COVID-19, focusing on genetic factors such as NOS3 polymorphisms. A total of 180 individuals were included, comprising 120 COVID-19 patients and 60 healthy controls. Clinical, haematological, biochemical, and genetic parameters were assessed. Results revealed significant differences in respiratory and heart rates, haematological counts, and biochemical markers between AVN and control groups. Genetic analysis showed a higher prevalence of the TG genotype and G allele in NOS3 rs1799983 polymorphism among AVN patients. Additionally, NOS3 rs2070744 polymorphism correlated with various clinical parameters, including blood pressure, heart rate, and haematological indices. This study highlights the potential role of genetic factors in predisposing individuals to AVN following COVID-19 infection.

Association between eNOS rs1799983 (894G&gt;T) Polymorphism with Cancer and Stroke Risk: A meta-analysis

Background Although numerous case-control studies have examined the role of nitric oxide, particularly the 894G&gt;T polymorphism in the eNOS gene, in increasing the risk of stroke and cancer, there remains a need for a comprehensive meta-analysis to clarify these associations. This study aims to address this gap by thoroughly evaluating the relationship between the eNOS 894G&gt;T polymorphism and the risks of cancer and stroke. Methods We conducted an exhaustive search across digital databases including Science Direct, PubMed, and Google Scholar for studies published between 2012-2023. A rigorous selection process was employed to include relevant studies, which were then analyzed using robust meta-analytical techniques to determine the association between the eNOS 894G&gt;T polymorphism and the risks of cancer and stroke. Results In this meta-analysis, we combined data from 2,013 cases and 2,187 control subjects for cancer risk assessment and 1,006 cases with 1,146 control subjects for stroke risk evaluation. Our findings indicate that the eNOS 894G&gt;T polymorphism is significantly associated with an increased risk of cancer when comparing GG vs. GT+TT genotypes. Additionally, there is a notable correlation between this polymorphism and stroke incidence under various genetic models (T vs. G, TT vs. GG + GT, GG + GT vs. TT). Conclusions The results of this meta-analysis suggest a significant association between the eNOS 894G&gt;T polymorphism and increased risks of cancer and stroke. These findings underscore the importance of conducting future studies with larger sample sizes and more comprehensive analyses further to elucidate the role of nitric oxide in these diseases. This study addresses some concerns but further detailed and non-repetitive research is necessary for conclusive evidence.

Cardiohemodynamic responses and heart rate variability following an active orthostatic test among male residents of the North with different NOS3 (rs2070744) genotypes

AIM: This study explored associations between the -786TC (rs2070744) genetic polymorphism of the NOS3 gene and the main indices of systemic hemodynamics and heart rate variability following an active orthostatic test in men living in the North. MATERIAL AND METHODS: Eighty-three healthy men aged 33.5±1.5 yеаrs on average, who were permanent residents of the Magadan Region, comprised the sample. The participants underwent both resting and active orthostatic testing modes. Cardiovascular system variables were recorded using an automatic tonometer. Hemodynamic indices were then calculated. Short-term heart rate variability in frequency and spectral areas was simultaneously measured using the Varikard hardsoft complex unit. Genotyping was conducted using polymerase chain reaction. The sample was then divided into two groups: Group 1 consisted of homozygotes with the TT genotype (n=34), while Group 2 comprised carriers of the NOS3*C allele variant (genotypes TC+CC) associated with reduced nitric oxide production (n=49). RESULTS: By examining the complex vasomotor, chrono- and inotropic reactions of hemodynamic and heart rate variables during the active orthostatic test, we were able to discern unique patterns in the response of the two groups under study. Men in Group 1 demonstrated an elevated cardiac output response during orthostatic changes, while maintaining consistent vascular resistance values. This was accompanied by a shift towards sympathetic autonomic activity and an increase in the very low-frequency component of heart rate variability. In Group 2, individuals with sympathetic insufficiency and increased vascular resistance during the orthostatic test showed a 35% increase in the low-frequency component of the cardiac rhythm reflecting the importance of this indicator as a stimulator of blood pressure rhythm fluctuations mediated by baroreflex mechanisms. CONCLUSION: Our findings suggest that men lacking the NOS3*С allele variant in their genotype demonstrate more favorable responses to the active orthostatic test. This may reflect higher level of cardiovascular functional reserves. The 786TC (rs2070744) polymorphism of the NOS3 gene can be considered as a marker of cardiohemodynamic status and autonomic regulations during functional exercise, such as an active orthostatic test.

Joint Effects of Dietary Patterns and Paraoxonase1 rs662 Polymorphism on Coronary Artery Disease Severity (Gensini and SYNTAX Scores) and Its Risk Factors in adults Undergoing Angiography.

The present study aims to assess the interaction of dietary patterns (DPs) and paraoxonase1 (PON1) rs662 polymorphism on coronary artery disease (CAD) severity and its risk factors. This cross-sectional study is conducted on 425 patients undergoing angiography. The PON1 genotypes are detected by the polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) technique. DPs are extracted by exploratory factor analysis. Two dietary patterns Western (WDP) and Traditional (TDP) are extracted. A gene-diet interaction concerning a high Gensini score is observed. Accordingly, high adherence to the WDP increases the odds of a high Gensini score in R allele carriers compared to QQ genotype carriers by 2.48 times (odds ratio [OR]: 2.48, 95% confidence interval [CI] 0.98-6.26, p = 0.05). Also, the risk of high systolic blood pressure (SBP) is higher in R allele carriers with high adherence to the WDP compared to QQ genotype carriers(OR: 3.49, 95% CI 1.38-8.82, p<0.001. No significant interaction is observed between TDP and PON1 rs662 on any cardiometabolic risk factors (p-value>0.05). The results remain significant after adjusting for confounders. The present study's findings indicate the existence of an interaction between the PON1 rs662 polymorphism and the WDP on the risk of stenosis severity and high SBP.

The lifestyle for brain health index, the cluster of differentiation 33 (CD33) gene, and cognitive function among rural Chinese older adults: A population-based study

BackgroundWe sought to examine the associations of the Lifestyle for Brain Health (LIBRA) index with cognitive function among rural Chinese older adults and to explore the potential role of cluster of differentiation 33 gene (CD33) in the associations. MethodsThis population-based cross-sectional study included 4914 dementia-free participants (age ≥60 years; 56.43 % women) in the 2018 baseline examination of MIND-China. The LIBRA index was generated from 11 factors. We used a neuropsychological test battery to assess episodic memory, verbal fluency, attention, executive function, and global cognition. The CD33(rs3865444) polymorphism was detected using multiple-polymerase chain reaction amplification. Data were analyzed using the general linear regression models. ResultsA higher LIBRA index was associated with multivariable-adjusted β-coefficient (95 %CI) of -0.011(-0.020- -0.001) for global cognitive z-score, -0.020(-0.033- -0.006) for episodic memory, and -0.016(-0.029- -0.004) for verbal fluency. The CD33(rs3865444) was associated with a lower global cognitive z-score in the additive (CA vs. CC: β-coefficient=0.042; 95 %CI=0.008–0.077), the dominant (CA+AA vs. CC: 0.040; 0.007–0.073), and the over-dominant (CA vs. CC+AA: 0.043; 0.009–0.077) models. Similar results were obtained for verbal fluency and attention. The CD33 gene showed statistical interactions with LIBRA index on cognitive function (Pinteraction<0.05) such that a higher LIBRA index was significantly associated with lower z-scores of global cognition and attention only among CD33 CC carriers (P < 0.05). ConclusionsThis population-based study reveals for the first time that a higher LIBRA index is associated with worse cognitive performance in rural Chinese older adults and that CD33 gene could modify the association.

The effect of RNLS gene polymorphisms on preeclampsia susceptibility: a meta-analysis study.

Aim: The authors designed a meta-analysis to find a comprehensive result of the impact of RNLS polymorphisms on preeclampsia (PE) susceptibility. Methods: The online databases PubMed, Scopus, and Google Scholar were employed for the purpose of literature search. Data analysis was conducted using STATA (ver. 12.0) and MetaGenyo web tool. Results: The findings showed that the RNLS rs10887800 polymorphism could increase risk of PE in allelic, codominant heterozygous and dominant genetic models. In addition, the analysis indicated that the RNLS rs2576178 polymorphism was associated with higher risk of PE in allelic, codominant homozygous, dominant, and recessive models. Conclusion: The findings of meta-analysis showed that the RNLS rs10887800 and rs2576178 polymorphisms could increase risk of PE in several genetic models.

The effects of ANRIL polymorphisms on colorectal cancer, tumor stage, and tumor grade among Iranian population.

Colorectal cancer (CRC) is a type of neoplasm, developing in the colon or rectum. The exact etiology of CRC is not well known, but the role of genetic, epigenetic, and environmental factors are established in its pathogenesis. Therefore, the aim of this research was to explore the effects of ANRIL polymorphisms on the CRC and its clinical findings. The peripheral blood specimens were collected from 142 CRC patients and 225 controls referred to Milad Hospital, Tehran, Iran. PCR- RFLP method was used to analyze ANRIL rs1333040, rs10757274 rs4977574, and rs1333048 polymorphisms. The ANRIL rs1333040 polymorphism was related to a higher risk of CRC in the co-dominant, dominant, and log-additive models. ANRIL rs10757274, rs4977574, and rs1333048 polymorphisms showed no effect on CRC susceptibility. The CGAA and TGGA haplotypes of ANRIL rs1333040/ rs10757274/ rs4977574/rs1333048 polymorphisms were associated with the higher and the lower risk of CRC respectively. The rs1333040 polymorphism was associated with higher TNM stages (III and IV). The frequency of ANRIL rs10757274 polymorphism was lower in CRC patients over 50 years of age only in the dominant model. In addition, the rs10757274 was associated with well differentiation in CRC patients. The ANRIL rs1333040 polymorphism was associated with a higher risk of CRC and higher TNM stages. ANRIL rs10757274 polymorphism was associated with the well-differentiated tumor in CRC.

Cholesterol Ester Transfer Protein Taq1B Polymorphism and Its Association with Cardiovascular Risk Factors in Patients Undergoing Angiography in Yazd, Eastern Iran: A Cross-Sectional Study.

Several studies assessed the relationship between the cholesterol ester transfer protein (CETP) Taq1B gene polymorphism (rs708272) with risk factors of cardiovascular diseases (CVDs). However, their findings were inconsistent. The present study investigated the relationship between CVD risk factors and the Taq1B variant in patients undergoing coronary angiography. This cross-sectional study was conducted on 476 patients aged 30-76 years old of both sexes from 2020-2021, in Yazd (Iran). The Taq1B polymorphism genotypes were evaluated using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) on DNA extracted from whole blood. Standard protocols were used to measure cardio-metabolic markers. To determine the association between CVDs risk factors and the rs708272 variant, binary logistic regression was used in crude and adjusted models. Taq1B polymorphism genotype frequencies were 10.7% for B1B1, 72.3% for B1B2, and 17% for B2B2. There was no significant association between abnormal levels of CVDs risk factors and different genotypes of the Taq1B variant, Gensini score (P=0.64), Syntax score (P=0.79), systolic blood pressure (P=0.55), diastolic blood pressure (P=0.58), and waist circumference (P=0.79). There was no significant association between genotypes of the rs708272 variant and any abnormal serum lipid levels. After adjusting for confounders, the results remained non-significant. There was no significant association between CVDs risk factors and CETP rs708272 polymorphism. The relationship between CETP gene variants and CVD occurrences varied across groups, implying that more research in different regions is required.A preprint version of this manuscript is available at https://www.researchsquare.com/article/rs-2575215/v1 with doi: 10.21203/rs.3.rs-2575215/v1.

Association of the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) Polymorphisms With Risk of Coronary Artery Disease in Iranian Patients.

Coronary artery disease (CAD) is a devastating illness and a leading cause of death worldwide, primarily caused by atherosclerosis resulting from a genetic-environmental interaction. This study aimed to investigate the relationship between the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) polymorphisms, lipid profile parameters, and CAD risk in a southeast Iranian population. A total of 400 subjects (200 CAD patients with hyperlipidemia and 200 healthy controls) were enrolled in this case-control study. Five selected polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. For all single nucleotide polymorphisms (SNPs), the population under study was in the Hardy-Weinberg equilibrium. The T-risk allele frequency of rs2228570 was associated with an increased risk of CAD. The TT and CT genotypes of rs2228570 had also been associated with the risk of CAD. Additionally, the TT genotype was associated with higher serum low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) levels. The GG genotype of the rs3736234 was associated with higher body mass index (BMI) and triglyceride (TG) levels, and the AA genotype of the rs708272 was associated with higher HDL-c levels. Based on these findings, we propose that the VDR (rs2228570) polymorphism was associated with serum HDL-c and LDL-c levels and may serve as potential risk factors for CAD within the Iranian population. Moreover, rs3736234 and rs708272 influence the concentrations of TG and HDL-c, respectively. These findings provided insights into the complex interplay between genetic variations, cardiovascular risk, and lipid metabolism.

Association of ITGA4 and ICAM-1 gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease

To assess the association between the polymorphism of integral protein α4 (ITGA4) and intercellular adhesion molecule 1 (ICAM-1) genes and the risk and clinicopathological characteristics of Crohn's disease (CD) among Chinese patients. From January 2010 to January 2021, a total of 215 CD patients and 529 gender- and age-matched healthy controls were enrolled from the Second Affiliated Hospital of Wenzhou Medical University as the study subjects. Genotypes of ITGA4 (rs6740847, rs7562325) and ICAM-1 (rs5498) were determined by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Harvey-Bradshaw Index (HBI) was applied to assess the disease activity of CD, and the patients were further divided into subgroups based on the Montreal Classification Criteria of CD. Unconditional logistic regression was employed to analyze the distribution of ITGA4 (rs6740847, rs7562325) and ICAM-1 (rs5498) polymorphisms between the patients and healthy controls and their association with the clinicopathological characteristics of the patients. The frequencies of T allele and CT+TT genotypes of ITGA4 (rs7562325) were higher in CD patients than the healthy controls (40.70% vs. 31.57%, P = 0.001; 62.79% vs. 54.36%, P = 0.042). The G variant and AG+GG genotypes of ITGA4 (rs6740847) were less common in patients with moderately to severely active CD compared with those with mildly active CD (31.18% vs. 51.72%, P = 0.002; 55.91% vs. 75.86%, P = 0.042). However, the opposite conclusion was drawn for the G allele (G) and AG+GG genotypes of ICAM-1 (rs5498) (31.45% vs. 17.24%, P = 0.027; 54.30% vs. 31.04%, P = 0.020). Compared with patients with terminal ileal or ileocolic CD, G allele and AG+GG genotypes of ITGA4 (rs6740847) were more prevalent in patients with colonic CD (55.26% vs. 29.38%, P < 0.001; 84.21% vs. 53.11%, P<0.001). The same conclusion could also be drawn for the G allele and AG+GG genotypes of ICAM-1 (rs5498) (42.11% vs. 26.84%, P = 0.008; 73.69% vs. 46.33%, P = 0.002). The frequency of homozygous GG genotype of ICAM-1 (rs5498) was lower in patients with stricturing and penetrating CD than those with non-stricturing and non-penetrating CD (0.00% vs. 12.32%, P = 0.001). The G allele and AG+GG genotypes of the ITGA4 (rs6740847) were more common in patients with perianal lesions than those without (40.28% vs. 30.77%, P = 0.049; 72.22% vs. 51.75%, P = 0.004). Variants of the ITGA4 (rs7562325) may be a risk factor for CD, whilst those of the ITGA4 (rs6740847) may be associated with the decline of disease activity and risk for colon involvement and perianal lesions. Variants of the ICAM-1 (rs5498) may increase the risk of disease activity and colonic involvement in CD patients, however, it may be a protective factor for stenosis and penetration. In addition, variants of the ITGA4 (rs6740847) and ICAM-1 (rs5498) may be associated with the early onset of CD.

Risk association of the nitric oxide synthase VNTR intron 4 a/b variant with diabetic nephropathy – a pilot study

Diabetic nephropathy (DN) is known to be a leading complication of type 2 diabetes mellitus (T2D). This study evaluated whether the VNTR intron 4 a/b and rs1799983 polymorphisms of endothelial-derived nitric oxide synthase (eNOS) gene modulated the risk of developing DN in Asian Indian patients. The eNOS variants were genotyped in 200 patients, 100 with DN and 100 without DN. A significant risk association was observed for the VNTR intron 4 a/b (p < 0.05). Haplotype analysis revealed that the allele combination of rs1799983894 G/Intron 4b and rs1799983894 T/Intron 4b had a statistically significant inverse association with DN.

Nomogram developed with APOA5 genetic variant rs662799 and clinical characteristics predicting risk of essential hypertension in a Chinese population.

The apolipoprotein A5 (APOA5) gene has been identified as a key regulatory factor in triglyceride (TG) metabolism and plasma lipid levels. Genetic polymorphisms of APOA5 have been linked to an elevated risk of atherosclerosis, metabolic syndrome, stroke, and coronary artery disease. The rs662799 variant is a single nucleotide polymorphism (SNP) that occurs at a specific position within the APOA5 gene. However, the association between rs662799 polymorphism and essential hypertension (EHT) remains unclear. The study aimed to comprehensively examine the potential correlation between the rs662799 polymorphism and the susceptibility to EHT in a Chinese population using a systematic analysis. In a case study conducted at the First Affiliated Hospital of Xinjiang Medical University between Jan 2019 and Dec 2021, we examined a total of 700 cases of EHT along with 700 corresponding controls. The serum concentrations of various lipid parameters were measured by enzymatic method, while the genotyping of the SNP was performed using the improved multiplex ligation detection reaction (iMLDR) method. The independent risk factors of EHT were identified from multivariable logistic regression analysis. The nomogram prediction model that incorporated the APOA5 genetic variations and clinical variables was constructed. In addition, receiver operating characteristic (ROC) curve and Hosmer-Lemeshow test were conducted to determine the performance of the nomogram model. The optimal threshold was calculated based on Youden index. Our study revealed a higher prevalence of the G allele of the rs662799 variant in individuals diagnosed with EHT compared to the control group. Logistic regression analysis indicated that with the adjustment of other confounders, the observed difference between the two groups remained statistically significant [odds ratio (OR) =1.519; 95% confidence interval (CI): 1.203-1.917; P<0.001]. Based on 8 independent risk factors including APOA5 rs662799 G allele, age, body mass index (BMI), smoking, diabetes, education, low-density lipoprotein cholesterol (LDL-C), and TG, we constructed a novel risk evaluation nomogram of EHT. The area under the ROC curve of the nomogram was 0.722 (95% CI: 0.693-0.752; P<0.001) and 0.747 (95% CI: 0.690-0.804; P<0.001) for the training and validation set, respectively. Furthermore, the Hosmer-Lemeshow test indicated excellent calibration performance, yielding P values of 0.969 for the training set and 0.761 for the validation set. In our study, the rs662799 variant of the APOA5 gene was significantly associated with susceptibility to EHT. A nomogram for the early prediction of EHT in in the Chinese population was successfully constructed and validated. The nomogram can provide a visual assessment of the risk of EHT for clinical consultation.

Body mass index-dependent association between cholesteryl ester transfer protein variants and atherometabolic risk factors in gestational diabetes mellitus

Objective Gestational diabetes mellitus (GDM) is associated with metabolic abnormalities such as an altered serum lipid profile. This study investigated the influence of polymorphisms in the lipid metabolism-related cholesteryl ester transfer protein gene (CETP) on the metabolic parameters of pregnant women with GDM. Methods This prospective case-control study included 665 women with GDM and 1,044 women with uncomplicated pregnancies. The PCR-restriction fragment length polymorphism method was used to genotype rs708272 and rs1800775 single nucleotide polymorphisms (SNPs). Lipid and glucose metabolic parameters were assessed. Genetic associations with related traits were analyzed. Results Genotype distributions of rs708272 and rs1800775 in patients with GDM were similar to those in normal controls. However, the two CETP SNPs were associated with altered plasma total cholesterol (TC), high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol (LDL-C) concentrations in patients with GDM and in control pregnant women. Additional subgroup analysis demonstrated that the rs708272 polymorphism was associated with variations in triglyceride (TGs), TC, LDL-C, and apolipoprotein B (ApoB) levels in patients with overweight or obesity GDM, whereas both polymorphisms were associated with glucose metabolic traits (plasma insulin, glucose, or insulin) and the insulin resistance index in patients with GDM without obesity. Conclusions In patients with GDM, the rs708272 polymorphism was associated with atherogenic lipid levels (TG, TC, LDL-C, and ApoB), whereas the rs708272 and rs1800775 polymorphisms were associated with glucose metabolism and insulin resistance parameters, which were influenced by the body mass index. These results suggest that genetic associations with atherogenic metabolic factors may increase the risk of adverse outcomes in mothers with GDM and their offspring.

Association between plasma angiotensinogen level and response to valsartan among sample of Iraqi hypertensive patients.

Aim: The main aim of the present paper is to investigate allele frequencies of rs1799983 polymorphism eNOS genes and to determine association between rs1799983 polymorphism of eNOS gene and essential hypertension in Iraqi hypertensive patients. Materials and Methods: Data obtained at the Al-Diwaniyah teaching hospital in Iraq by researchers from the Department of Pharmacology and Therapeutics in the College of Medicine at University of Al-Qadisiyah from July 2022 to July 2023. All participants (aged 20 to 70) had been taking valsartan 160 mg once day for essential hypertension for at least two weeks before to the study. There were a total of 90 participants, 37 males and 53 women. Initial investigations of hypertension have indicated that the angiotensinogen gene has a substantial impact in susceptibility to essential hypertension through observational cross sectional descriptive single center study. Results: Indicate, in patients with essential hypertension, that the "AGT gene A>G (rs699) and C>T(rs5051)" have high angiotensinogen level, and there is no signif i cant association between these two (rs699, rs5051) and responsiveness to valsartan (P >0.05). Conclusions: Result showed the most common allele for rs699 was G allele (67%) while the most frequent genotype was AG (49%) and regarding rs5051 the most frequent allele was C (54%) while the most frequent genotype was CT (46%). In this study we demonstrate the lack of signif i cant association between two these polymorphisms and clinical response to valsartan (P >0.05).

The potential impact of vascular endothelial growth factor rs699947 polymorphisms on breast tumors susceptibility in a sample of iraqi females

The potential impact of vascular endothelial growth factor rs699947 polymorphisms on breast tumors susceptibility in a sample of iraqi females