CG Genotype Research Articles

Prognostic impact of serum vascular endothelial growth factor and VEGF gene polymorphism (rs2010963) in breast cancer patients

Back groundVascular Endothelial Growth Factor (VEGF) mediates breast carcinogenesis. Several studies shown that, VEGF is associated with increased breast cancer risk. However its prognostic significance and expression in different molecular subtypes remain unclear. The current study aimed to evaluate the diagnostic and prognostic role of serum VEGF and VEGF rs2010963 polymorphism in Egyptian women with breast cancer. AimThe current study aimed to evaluate the diagnostic and prognostic role of serum VEGF and VEGF rs2010963 polymorphism in Egyptian women with breast cancer. Subjects and methodsThis study was held in Menoufia University Hospital and included 275 participants, 150 women with invasive breast cancer and 125 women as healthy controls. Serum VEGF was assayed by ELISA technique and genotyping of VEGF rs2010963 polymorphism was analyzed by real time PCR. ResultsThe frequency of GG, CG genotypes and G allele were higher in breast cancer group when compared to the control group (p value = 0.001). In breast cancer patients there was significant relation between VEGF gene (C/G) polymorphism and patient age, tumor and nodal stage, molecular subtype and higher level of serum of CA15–3, CEA and VEGF for patients with GG genotype (P ≤ 0.05). Multivariate Cox regression analysis of factors affecting survival showed that advanced tumor stage, presence of metastasis, serum level of VEGF and GG rs 2010963VEGF gene polymorphism were independent factors affecting patient survival (P ≤ 0.05). Conclusionrs2010963 VEGF gene polymorphism and serum VEGF could be considered as potential risk factors for breast cancer, Patients with breast cancer presenting the GG genotype have the highest serum VEGF levels, large tumor size, advanced tumor stage and shorter survival than CC carriers.

Polymorphism of the GnRH1 gene and Its effect on some Physiological parameters of Local chickens

The GnRH1 gene is among the genes that mainly affect reproduction and productive traits in local chickens. The GnRH hormone regulates reproductive activity in poultry by regulating the production of other reproductive hormones, such as LH and FSH, which significantly affect birds' productivity. This study was conducted to detect Genetic polymorphism of the GnRH1 gene in local chickens using PCR-SSCP sequencing. Samples were collected at ages 2, 4, 6, and 8 months of birds (n=50). The results found homogeneity in all encoded regions except for one. Polymorphism was detected in the Exon-4 1SNP site 147 C>G. The results indicated significant differences (P≤ 0.05) for the interaction of sex with the genotype of the LH, as the statistical results show that birds with the genotype CC for both, gender outperformed the birds carrying the genotype CG at the age of 2 and 4 months. The results showed significant differences (P≤ 0.05) in the mean genotype within each month in the mean testosterone concentration in males and estrogen in females. Age progression revealed that the homologous genotype CC-carrying birds had an arithmetic advantage over the CG-carrying birds in terms of the average sex hormone concentration. This gene may serve as a marker that is helpful in the marker-assisted selection of local chicken. This study is one of the first to study polymorphisms GnRH1 in local chickens.

Association between PNPLA3 rs738409 variant and 5-year estimated glomerular filtration rate decline in post-menopausal women with type 2 diabetes: A panel-data analysis

Background and aimsLittle is known about the relationship between patatin-like phospholipase domain-containing protein-3 (PNPLA3) rs738409 variant and decline in estimated glomerular filtration rate (eGFR) over time in individuals with type 2 diabetes (T2DM). Methods and resultsWe enrolled an outpatient sample of 46 post-menopausal women with T2DM and preserved kidney function at baseline (in 2017), who were followed through 2022. eGFR and albuminuria were measured annually. Genotyping of PNPLA3 rs738409 was performed by TaqMan-based RT-PCR system. Overall, 25 (54.3%) patients had PNPLA3 rs738409 CC (homozygous wild-type) genotype and 21 had CG or GG genotypes. During the 5-year follow-up, the presence of rs738409 CG/GG genotypes was associated with faster eGFR decline (coefficient: −6.55; 95% CI −11.0 to −2.08; p = 0.004 by random-effects panel data analysis). This association remained significant even after adjustment for 5-year changes in age, hemoglobin A1c, hypertension status, albuminuria and use of sodium-glucose co-transporter-2 inhibitors or glucagon-like peptide-1 receptor agonists. ConclusionsThis pilot study suggests that in post-menopausal T2DM women with preserved kidney function at baseline, the risk allele (G) of PNPLA3 rs738409 is associated with a faster eGFR decline during a 5-year follow-up, independent of annual changes in common renal risk factors and use of certain glucose-lowering medications.

PNPLA3 genotypes modify the adverse effect of the total energy intake on high-risk nonalcoholic steatohepatitis development

BackgroundThe relationship between diet and risk genotypes in nonalcoholic steatohepatitis (NASH) development and fibrosis progression in patients with nonalcoholic fatty liver disease (NAFLD) remains unclear. ObjectiveWe aimed to investigate the effects of diet on NASH development and fibrosis progression in patients with NAFLD stratified by the PNPLA3 genotype. MethodsWe performed a prospective study in a cohort of patients with biopsy-confirmed NAFLD. Histologic deterioration was obtained using serial transient elastography at every 1 or 2 y. The primary outcome was fibrosis progression, and the secondary outcome was development of high-risk NASH, defined as FibroScan-aspartate aminotransferase score ≥0.67 during the follow-up of patients with nonalcoholic fatty liver at the baseline. Dietary intake was evaluated using a semiquantitative food frequency questionnaire. ResultsThe primary outcome was observed in 42 (29.0%) of the 145 patients during a median follow-up of 49 mo; neither the total energy intake nor each macronutrient intake significantly affected the primary outcome occurrence. Conversely, the total energy intake (HR per 1-SD: 3.03; 95% CI: 1.31, 7.01) and the PNPLA3 rs738409 genotype [HR per 1 risk allele (G): 2.06; 95% CI: 1.11, 3.83)] were independent risk factors for high-risk NASH. The significant interaction between the total energy intake and PNPLA3 genotype was noted in developing high-risk NASH (P = 0.044). As the number of PNPLA3 risk alleles decreased, the effect of the total energy intake on high-risk NASH increased; the HR per 1-SD increment in total energy intake was 1.52 (95% CI: 0.42, 5.42), 3.54 (95% CI: 1.23, 10.18), and 8.27 (95% CI: 1.20, 57.23) for the GG, CG, and CC genotypes, respectively. ConclusionsThe total energy intake adversely affected the development of high-risk NASH in patients with biopsy-confirmed NAFLD. The effect was more prominent in patients without the PNPLA3 risk allele, highlighting the importance of personalized dietary interventions in NAFLD treatment.

Association of S19W polymorphism in APOA5 gene and serum lipid levels in patients with type 2 diabetic nephropathy.

Type 2 diabetic Mellitus (T2DM) is the most common systemic and endocrine disease in humans, anddiabetic nephropathy is one of the most serious complications of this disorder. The polymorphisms in the apolipoprotein A5 (ApoA5) gene are strongly related to hypertriglyceridemia and are considered a predisposing factor for diabetic nephropathy. The current study proposed to examine the association of APOA5-S19W polymorphism with serum lipids levels in patients with type 2 diabetic nephropathy in Mazandaran province. This case-control study was designed to determine the association of APOA5-S19W polymorphism with plasma lipid profile in 161 T2DM patients with nephropathy (DN+), without nephropathy (DN-), and in 58 healthy individuals. Lipid profile values were measured using ParsAzmoun commercial kits. S19W variant, one of the polymorphisms of the APOA5 gene, was determined by PCR-restriction fragment length polymorphism (PCR-RFLP) and Taq1 restriction enzyme. In comparison between the three groups, DN+ had a higher mean TG than DN- and the control group (p<0.001). The incidence of the G allele in DN+ was not significant compared to groups of DN-. Comparing the relationship between the mean of biochemical variables with CC and CG genotypes showed that the mean level of TG in people with CC genotype was increased compared to people with CG genotype in diabetic patients. However, this increase was not significant (p=0.19). There was no association between SNP APOA5 S19W and serum lipids in diabetic patients with and without nephropathy.

Study the Association of Uromodulin Gene rs13332878 with Chronic Kidney Disease

Uromodulin is the most abundant protein ordinary excreted in urine which could be used as a biomarker to diagnose kidney diseases. However, evidence suggests that it regulates salt transport, protects against urinary tract infection and kidney stones, and has a role in kidney damage and innate immunity. This study aimed to understand the association of uromodulin gene rs13332878 with chronic kidney disease. More than 100 people were selected for the study and the samples collected from the under study subjects were divided into two groups. 70 chosen subjects were under the dialysis with kidney failure, and aged between 18-88 years. The second group included 30 samples from healthy individuals, used as control. One of the ways used to identify the genotype was the tetra-primers amplification refractory mutation system–polymerase chain reaction (ARMS–PCR). Regarding the results of SNP (rs13332878), there were three genotypes: GG, CG and CC. Genotype GG was shown in the size 288bp, genotype CG was shown in the size 288+577bp, whereas genotype CC was shown in the size 577bp. The results of frequency genotypes that appeared for GG, GC and CC were 74.29%, 17.14% and 8.57% respectively in patients. Whereas in the control, the frequency of genotypes was GG 3.33%, GC 16.67% and CC 80%. It was observed that less than 1 odds ratio meant that the genotypes were to be considered as a preventive factor. While more than 1 OR meant that the risk had increased (P-value 0.01). No significant differences for the genotypes GC were found when comparing patients and the control groups (P&gt; 0.01). So, we can conclude that there was an association between SNP (rs13332878) of uromodulin with kidney disease and genotype GG should be considered a risk factor while CC genotype represents a preventive factor.

An association study of the PNPLA3 I148M polymorphism (rs738409) with serum lipids in patients with dyslipidemia

Aim: One single nucleotide polymorphism (SNP) rs738409 in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene has been considered a major genetic risk factor of nonalcoholic fatty liver disease (NAFLD). Data have indicated that NAFLD is related to insulin resistance and dyslipidemia, but whether rs738409 is associated with circulating lipid and lipoproteins is not fully elucidated. The main aim of this study was to assess the association of rs738409 with lipid and lipoprotein levels in patients with dyslipidemia. Methods: This was a post-hoc analysis of a study in patients with dyslipidemia recruited on an outpatient basis. Morning blood samples were collected after a 12-h fast. Genomic DNA was extracted from whole-blood samples. Results: One hundred seventy-five patients with dyslipidemia were included (97 women). Lipid levels [total cholesterol (TC), triglycerides (TGs), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C)] or glycosylated hemoglobin (HbA1c) were not associated with the SNP, even after adjustment for gender, body mass index (BMI) and type 2 diabetes mellitus (T2DM), using either the additive (CC vs. CG vs. GG) or the dominant (CC vs. GG + CG) inheritance model. When data were stratified for obesity, significant associations between the variant and TC (P = 0.014) or LDL-C levels (P = 0.046) in the non-obese were observed. Pairwise comparison revealed significant changes only in TC between CC and CG genotypes (P = 0.012). Conclusions: No association was shown between rs738409 SNP and lipid/lipoprotein levels in patients with dyslipidemia. In subgroup analysis, TC was higher in non-obese, but not in obese, patients with CC, compared to CG carriers.

DIO1 Gene Polymorphism Is Associated with Thyroid Profiles and Reproductive Performance in Dairy Cows

Thyroid hormones mediate the interaction between the metabolic and reproductive systems, while their metabolism is controlled by different deiodinases. The present study aimed to search for associations of cow genotypes with SNPs in the deiodinase type 1 gene (DIO1) with thyroid profiles and reproductive traits. The blood was sampled from Russian black-and-white cows 2–6 weeks before calving and 1–13 weeks after calving to measure the hormonal levels by ELISA. RT-PCR analysis was performed for known mutations in the bovine DIO1 gene, and a polymorphism at position 13,149 was found. In animals with the CG genotype, the blood concentration of reverse triiodothyronine 6 weeks prepartum was higher and decreased much earlier than in animals with the CC genotype. Furthermore, 1 week after calving, the total triiodothyronine to reverse triiodothyronine ratio in cows with the CG genotype was higher than in cows with the CC genotype. A higher proportion of animals with better values of fertility traits was revealed in the CC group compared to the CG group. Thus, cows with the CC genotype of the DIO1 gene more often have a high reproductive ability, which may be associated with the rT3 profile features during the prepartum and early postpartum periods.

Impact of Arg72Pro polymorphism in P53 gene in cancer susceptibility in Algerian population

TP53 is a tumor suppressor gene involved in the development of several types of cancer. It has been reported that single nucleotide polymorphism in codon 72 of this gene, causing substitution of a Proline for an Arginine, may increase the risk of carcinogenesis. The objective of this study was to assess the frequency of the Arg72Pro polymorphism and to look for a possible association between this polymorphism and the occurrence of cancer. Our study concerned 82 DNA samples collected from the DNA bank of the Laboratory of Biology and Molecular Genetics of the Constantine University 3, and grouped 2 populations: 41 controls and 41 patients with one of three types of cancer: breast cancer, cervical cancer and lung cancer. This polymorphism was detected with PCR / RFLP. The results obtained in our study revealed a significant difference between the two patient and control groups for the heterozygous CG genotype (OR = 0.13, P = 0.001), which makes it possible to conclude that the CG genotype constitutes a risk factor in the occurrence cancer. However, the study showed that there is no difference between the Pro allele and the Arg allele in the patients compared to the controls (OR = 0.95, P = 0.87), which could rule out the possible association between the Arg72Pro polymorphism and the onset of cancer.

Does NUCB2/Nesfatin-1 Influence Eating Behaviors in Obese Patients with Binge Eating Disorder? Toward a Neurobiological Pathway.

Nesfatin-1 is a new anorexigenic neuropeptide involved in the regulation of hunger/satiety, eating, and affective disorders. We aimed to investigate nesfatin-1 secretion in vitro, in murine adipose cells, and in human adipose fat samples, as well as to assess the link between circulating nesfatin-1 levels, NUCB2 and Fat Mass and Obesity Gene (FTO) polymorphisms, BMI, Eating Disorders (EDs), and pathological behaviors. Nesfatin-1 secretion was evaluated both in normoxic fully differentiated 3T3-L1 mouse adipocytes and after incubation under hypoxic conditions for 24 h. Omental Visceral Adipose tissue (VAT) specimens of 11 obese subjects, and nesfatin-1 serum levels' evaluation, eating behaviors, NUCB2 rs757081, and FTO rs9939609 polymorphisms of 71 outpatients seeking treatment for EDs with different Body Mass Index (BMI) were studied. Significantly higher levels of nesfatin-1 were detected in hypoxic 3T3-L1 cultured adipocytes compared to normoxic ones. Nesfatin-1 was highly detectable in the VAT of obese compared to normal-weight subjects. Nesfatin-1 serum levels did not vary according to BMI, sex, and EDs diagnosis, but correlations with grazing; emotional, sweet, and binge eating; hyperphagia; social eating; childhood obesity were evident. Obese subjects with CG genotype NUCB2 rs757081 and AT genotype FTO rs9939609 polymorphisms had higher nesfatin-1 levels. It could represent a new biomarker of EDs comorbidity among obese patients.

A Novel c.100C > G Mutation in the FST Gene and Its Relation With the Reproductive Traits of Awassi Ewes.

Reproductive traits are affected by many factors, including ovarian function, hormones, and genetics. Genetic polymorphisms of candidate genes are associated with reproductive traits. Several candidate genes are associated with economic traits, including the follistatin (FST) gene. Thus, this study aimed to evaluate whether the genetic variations in the FST gene are associated with the reproductive traits in Awassi ewes. The genomic DNA was extracted from 109 twin ewes and 123 single-progeny ewes. Therefore, 4 sequence fragments from the FST gene were amplified using polymerase chain reaction (PCR) (exon 2/240, exon 3/268, exon 4/254, and exon 5/266 bp, respectively). For a 254 bp amplicon, 3 genotypes were identified: CC, CG, and GG. Sequencing revealed a novel mutation in CG genotypes c.100C > G. The statistical analysis of c.100C > G showed an association with reproductive characteristics. Ewes carrying the c.100C > G had significantly (P ⩽ .01) lower litter sizes, twinning rates, lambing rates, and more days to lambing compared with CG and CC genotypes. Logistic regression analysis confirmed that the c.100C > G single-nucleotide polymorphism (SNP) is responsible for decreasing litter size. According to these results, the variant c.100C > G negatively affects the traits of interest and is associated with lower reproductive traits in Awassi sheep. As a result of this study, ewes carrying the c.100C > G SNP have lower litter size and are less prolific.

AURKA Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer.

Association between variants rs1047972 and rs8173 of the AURKA gene in healthy women and breast cancer (BC) in a Mexican population. Genomic DNA samples from 409 healthy women and 572 patients with BC were analyzed for variants rs1047972 and rs8173 of the AURKA gene by polymerase chain reaction-restriction fragment length polymorphism. TT genotype (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.22-5.11; p = 0.0015) and the T allele (OR, 1.16; 95% CI, 1.23-2.12; p = 0.0007) of the rs1047972 variant were associated as risk susceptibility for BC relative to the control group. Contrarily, the GG genotype (OR, 0.64; 95% CI, 0.43-0.94; p = 0.029) was associated as a protective factor of susceptibility of BC of the variant rs8173 of the AURKA gene. Differences were observed in the patients with BC who were carriers of the CT genotype of the rs1047972 variant with overweight, obesity, estrogen receptor-positive plus obesity, Ki-67 (≥ 20%) plus history familial positive of cancer; and for variant rs8173 the BC patients who were CG carriers and presented chemotherapy gastric toxicity, hormonal receptor positive plus chemotherapy gastric toxicity, and menopause status plus chemotherapy gastric toxicity (p < 0.05). Two common haplotypes were identified in the study groups: CG and TC genotypes, were associated as a protective and risk factor, respectively (p < 0.05). Variants rs1047972 and rs8173 of the AURKA gene and the TC haplotype were associated as risk susceptibility factors for BC in this population.

XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.

Oral cancer is alarming disease in the developing countries like India. DNA repair capacity may affect by genetic polymorphisms in DNA repair genes and thus may cause to cancer. XRCC3 involves in homologous recombination repair pathway and repair DNA damage and crosslinks while, NBS1 participate in repair of double strand DNA break and starts the cell-cycle checkpoint signaling. This study was to conducted to find the association of XRCC3, NBS1 polymorphisms with oral disease. TT genotype of XRCC3 was associated with high risk of precancerous lesions and oral cancerous lesions (P value=0.0001, OR=9.68, 95% CI=2.82-33.21; and P value=0.0001, OR=13.10, 95% CI=3.38-50.73 respectively). We did not observe any interactions of XRCC3 polymorphism with demographic parameters in influencing the risk of oral diseases. Variant allele genotypes (CG, GG) of NBS1 (C>G) polymorphism showed protective association with Oral submucous fibrosis (OSMF), lichen planus as well as oral cancer (OR=0.31, OR=0.01; OR=0.39, OR=0.03; OR=0.43, OR=0.31 respectively). Particularly, tobacco chewer with CG & GG genotypes were at decrease risk of oral diseases (P value=0.02, OR=0.32, 95% CI=0.12-0.80). Compared to CC/CC combined genotype CG/CC, CG/CT, GG/CC and CG/CT genotypes decreased the risk of oral disease (OR=0.05, 0.47, 0.26 & 0.14 respectively). This study concludes that SNP in XRCC3, NBS1 affects susceptibility to oral disease.

Positive Interaction Between CG, CC Genotypes of Cryptochrome Circadian Clocks 1, and Energy-Adjusted Dietary Inflammatory Index on High Sensitivity C-Reactive Protein Level in Women With Central Obesity.

Creating a complex balance between dietary composition, circadian rhythm, and the hemostasis control of energy is important for managing diseases. Therefore, we aimed to determine the interaction between cryptochrome circadian clocks 1 polymorphism and energy-adjusted dietary inflammatory index (E-DII) on high-sensitivity C-reactive protein in women with central obesity. This cross-sectional study recruited 220 Iranian women aged 18-45 with central obesity. The 147-item semi-quantitative food frequency questionnaire was used to assess the dietary intakes, and the E-DII score was calculated. Anthropometric and biochemical measurements were determined. By polymerase chain response-restricted length polymorphism method, cryptochrome circadian clocks 1 polymorphism was assigned. Participants were categorized into three groups based on the E-DII score, then categorized according to cryptochrome circadian clocks 1 genotypes. The mean and standard deviation of age, BMI, and high-sensitivity C-reactive protein (hs-CRP) were 35.61 ± 9.57 years, 30.97 ± 4.16 kg/m2, and 4.82 ± 5.16 mg/dL, respectively. The interaction of the CG genotype and E-DII score had a significant association with higher hs-CRP level compared to GG genotype as the reference group (β, 1.19; 95% CI, 0.11-2.27; p value, 0.03). There was a marginally significant association between the interaction of the CC genotype and the E-DII score with higher hs-CRP level compared to the GG genotype as the reference group (β, 0.85; 95% CI, -0.15 to 1.86; p value, 0.05). There is probably positive interaction between CG, CC genotypes of cryptochrome circadian clocks 1, and E-DII score on the high-sensitivity C-reactive protein level in women with central obesity.

THE ROLE OF ANTIFUNGAL THERAPY IN THE TREATMENT OF ATOPIC DERMATITIS IN CHILDREN

Relevance. Atopic dermatitis (AD) is a common multifactorial disease in which allergens from the yeast Malassezia can worsen the severity of the disease. Local application of antimycotic drugs can reduce the allergen load on the skin and improve its condition.&#x0D; Objective: The aim of this study was to evaluate the effectiveness of ketoconazole 2% cream in the treatment of AD in children as an additional therapy, and the effect of sensitization to Malassezia and polymorphism rs7309123 in the Dectin-1 gene on the effectiveness of treatment.&#x0D; Materials and methods. 54 patients with atopic dermatitis aged 6-18 years were included in the study. Patients were randomized into two groups: a group receiving ketoconazole cream 2% (n=28) and a control group (n=26). Specific IgE to Malassezia was analyzed in 28 patients of the main group. Genotyping of the rs7309123 polymorphism in the Dectin-1 gene was performed in a group of patients using real-time PCR. Atopic dermatitis disease activity was evaluated before and after treatment using the SCORAD.&#x0D; Results. Improvement was observed in both groups of children in 3 weeks after treatment (p&lt;0,001). Children who received ketoconazole in addition to therapy had significantly better dynamics of the severity indicator, compared to the control group (W=465,0, p&lt;0,001). The rs7309123 polymorphism in the Dectin-1 gene affected the effectiveness of treatment: ΔSCORAD in the subgroup of children with the CC and CG genotypes was significantly higher than in the subgroup of children with the pathological GG genotype (20,2±11,5 and 13±6,5, respectively, T=2,12, p=0,044).&#x0D; Conclusion. This study demonstrated the effectiveness of ketoconazole in the treatment of atopic dermatitis as an additional therapy.

Evaluation of metabolic disorders and aging rates depending on SIRT1 polymorphism in patients with arterial hypertension and subclinical hypothyroidism

There is an increase in the frequency and severity of metabolic disorders in patients with arterial hypertension (AH) in combination with subclinical hypothyroidism (SH), that is accompanied by accelerated aging rates, but the research findings on the aging rates in this category of patients are extremely few in number. Therefore, the aim of our study was to assess metabolic disorders and the aging rates depending on the SIRT1 rs7069102 polymorphism in patients with AH and SH. A total of 132 patients with a median age of 47.6 years were included in the study and divided into 3 groups: a control group (n=30), a group of patients with AH without SH (n=49) and patients with AH in combination with SH (n=53). Anthropometric parameters, biochemical parameters, pro-inflammatory and oxidative states were evaluated in all pa­tients. The aging rates were assessed using two different methods. The frequencies of SIRT1 rs7069102 genotypes carriers in the study sample of patients were 8% for the CC genotype, 51% for the CG genotype and 41% for the GG genotype. There was a significant difference in the incidence of CC homozygosity and carriers of the G allele between groups of patients with AH depending on the SH presence (p&lt;0.001). We showed that carriers of the G allele and GG genotype of the SIRT1 gene (rs7069102) polymorphic marker with AH and SH had significantly higher (p&lt;0.05) insulin resistance, higher levels of low-density lipoprotein cholesterol, alkaline phosphatase, C-reactive protein and lower glomerular filtration rate, which negatively affected the aging processes in this category of patients. In addition, patients with AH had a marked effect of carrying the G allele on the lipid profile and biological age of patients. Therefore, timely detection of a polymorphic variant of the SIRT1 gene may be effective in premature aging prevention in patients with AH and SH.

Study of single nucleotide polymorphism of vascular endothelium factor in patients with differentiated thyroid cancer

BackgroundGenetic alterations and high levels of the vascular endothelial growth factor (VEGF) are presumptive risk factors for differentiated thyroid cancer (DTC).ObjectiveThis work aims to study the presence of − 634G/C polymorphism of vascular endothelial growth factor (rs2010963) and its’ serum level in patients with DTC and comparing these results with those of the control subjects.Material and methodThe study was a retrograde case–control study that included seventy patients with DTCin addition to seventy apparently healthy control subjects. Blood sample was taken and subjected to study of − 634G/C VEGF polymorphism (rs2010963) by real time PCR and measurement of its’ plasma level by immunoassay kit (ELISA).ResultsRegarding genotyping of VEGFA − 634G/C (rs2010963) polymorphism, there was significant increase in CG and GG genotypes (28.6%, 18.6% respectively) among patients compared to control subjects (20.0%, 4.3% respectively) and significant increase in CC genotype in control subjects (75.7%) compared to patients (52.9%), P = 0.001. The VEGF mean ± SD level was significantly elevated in patients compared to control subjects (1215.81 ± 225.78 versus 307.16 ± 91.81, P = 0.006). Moreover, there was significant increase in VEGF levels in patients with CG and GG genotypes (1295.9 ± 68.74, 1533.08 ± 109.95, respectively) compared to patients with CC genotype (1061 163.25), P = 0.001).ConclusionThere was significant increase in GG and CG genotypes in patients with DTC compared to control subjects which may suggest a predisposing role for these genotypes in development of DTC. Moreover, there was significant increase in serum level of vascular endothelial growth factor in patients with GG and CG genotypes which may reflect the mechanism of these genotypes in development of DTC.

Detection of polymorphism in growth differentiation factor 9 gene (GDF9) Exon1 and its association with litter size in local Iraqi goats

Litter size is one of the most important economic traits in goats. Growth Differential Factor 9 (GDF9) Gene is suggested as a functional candidate for fertility, fecundity and twining rate. This study was performed to identify SNPs in exon1 of the GDF9 gene and their association with fertility traits in local Iraqi goats. The exon 1 of GDF9 was sequenced, and the SNP (Single nucleotide polymorphism ) was determined in 36 local Iraqi goats. Then the association analyses between polymorphic locals of GDF9 and litter size were performed using the chi-square analysis procedure. The result shows that mutation (C 1902 G) was significantly associated with litter size in local Iraqi goats and the location of C1902 G mutation with three genotypes CC, CG and GG. A significant effect was found for birth weight, weaning weight and twin ratio, where the homozygous dominant genotype outperformed CC. A significant impact was seen for fertility and mortality, where CC topped CG and GG in fertility percentage and superiority of CG over CC and GG in mortality rate. The results preliminarily demonstrated that GDF9 was a critical gene affecting the fecundity of local Iraqi goats and that (C 1902 G) could be a potential genetic marker. Keywords: GDF9 gene, litter size, polymorphism, Iraqi goats

Study of the rs1800795 polymorphism of the &lt;i&gt;IL6&lt;/i&gt; gene to verify the clinical portrait of a patient with chronic heart failure: gender aspects

Background. Genetic studies in cardiology allow to identify predisposition and predict the course of multifactorial cardiovascular diseases by identifying the association of polymorphic loci of candidate genes with the clinical phenotype. One of these diseases associated with poor prognosis is chronic heart failure (CHF). Activation of pro-inflammatory cytokines is one of the key aspects of the development and progression of CHF.&#x0D; Aim. To identify the features of the clinical course of CHF of ischemic etiology in patients, taking into account the gender and genotype of the rs1800795 polymorphism of the IL6 gene.&#x0D; Materials and methods. Four hundred fourteen patients of both sexes with stable CHF of ischemic origin, aged 66.410.4 years, were included. Clinical characteristics of men and women of each genotype of the rs1800795 polymorphism of the IL6 gene were compared. Genotyping of the rs1800795 polymorphism of the IL6 gene was performed by real-time polymerase chain reaction.&#x0D; Results. In male patients with CHF, the frequency of allele C was higher than in the control group (p=0.04). Homozygous carriers of the C allele showed a greater risk of developing atrial fibrillation (p=0.021). In terms of biochemical parameters, in patients with a heterozygous genotype, compared with homozygotes for the G allele of the rs1800795 polymorphism of the IL6 gene, the levels of cholesterol, triglycerides (TG), cholesterol not associated with high-density lipoproteins (non-HDL-cholesterol) were higher (p=0.044, p=0.019, p=0.016). Patients with the CC genotype of the rs1800795 polymorphism of the IL6 gene females compared with men were more likely to have IIIIV functional class of CHF (p=0.001) and had a high heart rate (p=0.021). Male patients of the CG genotype were more likely to undergo coronary interventions (p=0.001). In women of the CG genotype, CHF was more often combined with DM (p=0.015), the level of non-HDL-cholesterol (p=0.04) was higher, and glomerular filtration rate was lower than in men (p=0.001). Comparison of the GG genotype revealed a higher incidence of chronic kidney disease in women (p=0.022). Women had significantly lower glomerular filtration rate (p=0.001), systolic blood pressure (p=0.004). The level of such biochemical parameters as cholesterol (p=0.001), TG (p=0.019), low-density lipoprotein cholesterol (p=0.002) was reduced, except for high non-HDL-cholesterol (p=0.001). There were more men with left ventricular ejection fraction 40% (p=0.009), women with left ventricular ejection fraction 50% (p=0.002).&#x0D; Conclusion. The identified phenotypic and gender differences create prerequisites for determining patient-oriented genetic risk, opening up new opportunities for preventing the progression and complications of CHF.

The Relation between Resistin (−420C/G) Single Nucleotide Variant, Resistin Serum Concentration, Carbohydrate, and Lipid Parameters and Fried Food Taste Preference in Patients with Hypertriglyceridemia

Resistin is a proinflammatory adipokine involved in metabolic disorders. Its interplay with hypertriglyceridemia remains to be elucidated. We aimed to evaluate the relationship between resistin (-420C/G) single nucleotide variant (SNV) and metabolic parameters and preference for fried food consumption in hypertriglyceridemia. The study enrolled 179 hypertriglyceridemic (HTG) and 182 normotriglyceridemic (NTG) patients. Anthropometric measurements, serum resistin, insulin and fasting glucose concentration, a homeostatic model assessment-insulin resistance (HOMA-IR), triglycerides (TG), cholesterol concentration, and fried food taste preference (FP) or other cooking methods preference (OP) were assessed in the study. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. HTG and NTG groups did not differ significantly in serum resistin concentration; HTG individuals demonstrated significantly increased serum levels of TG, glucose, total cholesterol (TCH), and HOMA-IR and decreased HDL cholesterol. Resistin, insulin, glucose, HOMA-IR, and cholesterol fractions were similar among particular resistin genotypes in HTG, NTG, FP, or OP groups. TG and TCH concentrations differ significantly among CG and CC genotypes in the FP group. Considering the FP group, GG and CG genotypes appeared more frequently in hyperlipidemic (OR 2.6 95% CI; 1.16-5.82; p = 0.01; significant after Bonferroni correction) than in NTG patients. Multivariable logistic regression models showed that the G allele and CG genotype of SNV (-420C/G), adjusted for selected confounders such as fried food preference, increased the odds of hypertriglyceridemia about twofold. Allele G and CG genotype of resistin SNV (-420C/G) are linked with the preference for fried food taste in hypertriglyceridemic patients.