Gene Rs9939609 Research Articles

Novel single nucleotide polymorphism biomarkers to predict opioid effects for cancer pain.

There have been few studies on predictive biomarkers that may be useful to select the most suitable opioids to optimize therapeutic efficacy in individual patients with cancer pain. We recently investigated the efficacy of morphine and oxycodone using single nucleotide polymorphisms (SNPs) of the catechol-O-methyltransferase (COMT) rs4680 gene as a biomarker (RELIEF study). To explore additional biomarkers that may enable the selection of an appropriate opioid for individual patients with cancer pain, three SNPs were examined: C-C motif chemokine ligand 11 (CCL11; rs17809012), histamine N-methyltransferase (HNMT; rs1050891) and transient receptor potential V1 (TRPV1; rs222749), which were screened from 74 pain-related SNPs. These SNPs, which were identified as being significantly associated with the analgesic effect of morphine, were then used to genotype the 135 patients in the RELIEF study who had been randomized into a morphine group (n=69) or an oxycodone group (n=66). The present study then assessed whether the SNPs could also be used as selective biomarkers to predict which opioid(s) might be the most suitable to provide pain relief for patients with cancer. Oxycodone tended to provide superior analgesic effects over morphine in patients carrying the genotype AA for the CCL11 rs17809012 SNP (P=0.012 for interaction), suggesting that it could serve as a potential biomarker for personalized analgesic therapy for patients suffering with cancer pain.

ESR1 and FTO genetic variants: impact on body weight reduction following bariatric surgery

Background Variation in reduction of body weight after bariatric surgery has been observed. Genetics may have a role in the varying outcomes among obese patients. Aim of this research work was to examine the effect of genetic variants within the Fat Mass and Obesity-Related gene (FTO) (rs9939609) and Estrogen Receptor Alpha gene (ESR1) (rs712221) on body weight reduction and blood glucose control in obese individuals, six months following laparoscopic sleeve gastrectomy (LSG). Patients and methods Ninety obese individuals with BMI ≥35 kg/m2 undergoing LSG were recruited and followed up after 6 months. Genotyping for FTO gene (rs9939609) and ESR1 gene (rs712221) variants was done using Real-Time PCR (TaqMan probes). Results FTO (rs9939609) genotype AA was found to be associated with more obesity before operation (P value 0.005) and lead to successful surgery and weight loss (P value 0.023, OR 0.080, 95%CI 0.009–0.702). Patients with risk allele A had more weight loss and BMI reduction after operation compared to patients with non-risk allele T (P value <0.001). ESR1 (rs712221) genotype TT was found to be associated with more reduction of body weight six months after surgery when compared to genotypes TA and AA (P value 0.001). Carriers of the allele T of the ESR1 (rs712221) had more reduction of HbA1c after operation compared to patients with allele A (P value <0.001). Conclusion The single nucleotide variants; rs9939609 of FTO and rs712221 of ESR1 may be considered potential predictors of body weight reduction and/or blood sugar control following bariatric surgery for obese individuals.

The obesity associated FTO gene polymorphism and the risk of preeclampsia in Iranian women: A case–control study

ABSTRACT Background Preeclampsia (PE) is one of the leading disorders in pregnant women with maternal and fetal complications. Obesity is considered an important risk factor for the development of PE. Genetic variations in fat mass and obesity associated (FTO) gene may play a role in the development of PE. This study aimed to investigate the possible association between FTO gene rs9939609 and PE risk in a sample of Iranian pregnant women. Material and methods In this case–control study, 312 pregnant women were included, including 128 with PE and 184 without PE. Demographic data and blood samples were obtained from all individuals. The genotyping of rs9939609 polymorphisms was performed by the tetra‐primer amplification refractory mutation system‐polymerase chain reaction (TP‐ARMS‐PCR) method, and the results of TP‐ARMS‐PCR were confirmed using DNA sequencing. Results The genotype frequency was 50%, 47.7%, and 2.3% in pregnant patients and 37%, 47.8%, and 15.2% in healthy controls for TT, AT, and AA, respectively. The risk of PE was significantly reduced in the pregnant women having the AA genotype. Conclusion Based on the results of the present study, rs9939609 polymorphism in the FTO gene may play a protective role against PE. However, further studies are warranted.

Academic stress, self-esteem and nonsuicidal self-injury among adolescents: The moderating effect of the oxytocin receptor (OXTR) gene rs53576 polymorphism

Academic stress, self-esteem and nonsuicidal self-injury among adolescents: The moderating effect of the oxytocin receptor (OXTR) gene rs53576 polymorphism

Impact of the FTO Gene Variation on Appetite and Fat Oxidation in Young Adults

The FTO rs9939609 gene, which presents three polymorphisms (AA, AT, and TT), has been associated with the development of obesity through an increased fat accumulation; however, the associations of the gene with other physiological mechanisms, such as appetite or fat oxidation, are still unclear. Therefore, this study aims to evaluate the influence of the FTO rs9939609 gene on different obesity-related factors in young adults. The FTO rs9939609 polymorphism was genotyped in 73 participants (28 women, 22.27 ± 3.70 years). Obesity-related factors included dietary assessment, physical activity expenditure, body composition, appetite sensation, resting metabolic rate, maximal fat oxidation during exercise (MFO), and cardiorespiratory fitness. Our results showed that TT allele participants expressed higher values of hunger (p = 0.049) and appetite (p = 0.043) after exercising compared to the AT allele group. Moreover, the TT allele group showed significantly higher values of MFO (p = 0.031) compared to the AT group, regardless of sex and body mass index. Thus, our results suggest that the FTO rs9939609 gene has an influence on appetite, hunger, and fat oxidation during exercise, with TT allele participants showing significantly higher values compared to the AT allele group. These findings may have practical applications for weight loss and exercise programs.

IL-10 A/G rs1800896 and TNF-α G308A rs1800629 Polymorphisms and Their Relationship with the Risk of Implant Loss in Adult Patients from Argentina

Introduction: the results of treatment in implantology have been evaluated mainly as implant survival rates in small groups of patients selected from specialized clinical or university settings. There is evidence to support polymorphisms that could be linked to some biological complications in implantology. The results may vary according to the origin or ethnic mixtures of the population studied. The objective of this study was to analyze the relationship between the polymorphisms IL-10 A/G rs1800896 and TNF-α G308A rs1800629308 and the loss of dental implants and periodontal disease. Material and method: 140 patients were selected, 10 with implant losses within a maximum period of 6 months of their placement. Each patient voluntarily consented to participate in the study (approved by CIEIS Adult Hospital Córdoba) Filiatory and clinical data were collected in a clinical history. Samples of clinically healthy oral mucosa were obtained and genotyped by PCR and RFPL. Results: The population consisted of male and female individuals in similar proportions (p=0.6121). The average age was 53.06±16.22 years, and an age variation range of 20 to 80 years. 7.7% of the patients included in the study had loss of their implant. It was observed that 62.5% of the patients who presented loss of implants were women. Of the patients with missing implants, 75% were smokers and did not consume alcohol. On the other hand, in relation to periodontal disease only 31% presented disease. In relation to genotype, patients with lost implants had 50% of the mutated allele of the SNP TNFα rs1800629, while 50% of patients with periodontal disease were carriers of the mutated allele for SNP IL-10 rs1800896. On the other hand, considering the total population under study, 31.06% of the patients presented the genotypes with the genetic variation, AG+GG, of the IL10 rs1800896 gene; while 64.07% presented the AA and GA genotypes, (both with the mutated allele) of the TNF-α G308A rs1800629 gene. No significant association (p=0.3298) was observed between IL10 rs1800896 genotypes and periodontal disease; contrary to whether there was a significant relationship of this SNP with periodontal disease (p=0.0164). Conclusion: The polymorphisms evaluated were not predictive of the failure of dental implants. However, a significant association between periodontal disease and TNF-α rs1800629 genotype could be observed. It is noteworthy that this is the first study that describes the frequency of the SNPs studied in a population of Córdoba–Argentina.

Frequency of rs2228570 single nucleotide polymorphism of Vitamin-D Receptor (VDR) gene among the Kazakh ethnic group

The article presents the results of the study of vitamin D receptor (VDR) gene rs2228570 single nucleotide polymorphism (SNP) genotypes and individual alleles frequency among the Kazakh ethnic group representatives living in the Karaganda region. This SNP was determined by real-time polymerase chain reaction using TaqMan technology. The study relevance is due to the fact that genetic variations in rs2228570 affect the synthesis of the VDR protein and its activity as a transcription factor that regulates the expression of other genes. This mechanism determines the association of individual rs2228570 genotypes or alleles with susceptibility, course, and outcomes of various diseases. The polymorphism frequency may be depending on ethnicity. According to the study results, the most common genotypes of rs2228570 SNP among the Kazakhs were AG (32.8 %) and GG (25.2 %). The rarest are homozygotes TT (1.7 %) and CC (0.8 %). The frequency of all rs2228570 alleles was detected simultaneously in the present study for the first time. G became the predominant allele (51.3 %), less common was A (31.0 %), and the C and T alleles were the rarest (11.8 % and 5.9 %, respectively). The potential value of this SNP further study as a possible factor influencing the body’s susceptibility to various diseases, including COVID-19, is shown.

Parent-Adolescent Conflict, Peer Victimization, and Internet Gaming Disorder Among Chinese Adolescents: The Moderating Effect of OXTR Gene rs53576 Polymorphism.

Despite growing evidence that parent-adolescent conflict positively correlates with Internet gaming disorder (IGD) among adolescents, its underlying mediating and moderating mechanisms have yet to be thoroughly examined. Based on the social development model and gene-environment interaction perspective, this study investigates whether the indirect association of parent-adolescent conflict, which impacts adolescent IGD through peer victimization, was moderated by the oxytocin receptor (OXTR) gene rs53576 polymorphism. Overall, 673 Chinese adolescents (Meanage = 12.81years; SD = 0.48years; 54% boys) were included in this study. The participants completed questionnaires concerning parent-adolescent conflict, peer victimization, and IGD, and genomic DNA was extracted from each participant's saliva and buccal cells. The findings indicated that peer victimization mediated the link between parent-adolescent conflict and IGD among adolescents. The OXTR gene rs53576 polymorphism also moderated this indirect link. Specifically, the indirect effect of parent-adolescent conflict on adolescent IGD through peer victimization was significant for adolescents with AA homozygotes. However, it was non-significant for adolescents with GA and GG genotypes. This research simultaneously considers the roles of family, peers, and genetics in adolescent IGD. Furthermore, it provides beneficial information to customize interventions for adolescent IGD prevention.

Assessment of health risks caused by overweight in children depending on the FTO gene rs9939609 polymorphism

In this study, we aimed to estimate the association between the rs9939609 FTO (fat mass and obesity associated) polymorphism and a risk of overweight in children living in the Baikal region. We performed a case – control study that included 113 schoolchildren living in industrial centers of the Baikal region (Irkutsk, Angarsk, and Ulan-Ude). Anthropometric parameters were measured and body mass index was calculated with its values being ranked in accordance with the WHO BMI curves depending on a sex and age. Genotyping of the rs9939609 FTO polymorphism was performed by allele-specific amplification with real-time results detection. To assess likelihood of an association between the FTO gene allele and overweight and obesity, relative risk (RR) and 95 % confidence interval (CI) were calculated. The assessment revealed the A allele of the rs9939609 FTO polymorphism to be by 1.29 times more frequent in the examined children with overweight and obesity (48.44 %) than in the children form the reference group (37.65 %). The FTO rs9939609 polymorphism was authentically associated with likelihood of elevated risks of overweight and obesity in children with the homozygous AA genotype (RR = 2.806, 95 % CI: 1.650–4.772; STD = 0.271). Our study confirms that the rs9939609 polymorphism of the FTO gene is a risk factor of overweight and obesity for children from the Baikal region who have the A allele of the homozygous AA genotype. Prevailing frequency of the TT genotype (29.2 %) as compared with the AA genotype (10.62) is likely due to influence of assimilation processes on urbanized territories in the Baikal region.

Association of the STAT4 Gene rs7574865 Polymorphism with IFN-γ Levels in Patients with Systemic Lupus Erythematosus.

STAT4 plays an important role in disease activity in SLE patients. STAT4 particles have the capacity to activate the transcription of genes associated with the production of TH1 and Th17 lymphocytes, with a greater predominance on the production of IFN-γ and IL-17A. The presence of variants in STAT4 genes has a major impact on the generation of autoimmunity. However, there are few studies evaluating the impact of these variants on the production of proinflammatory cytokines such as IFN-γ and IL-17A. Methods-A case-control study was carried out with 206 Mexican mestizo patients residing in Western Mexico with a diagnosis of SLE and a group of 80 patients without autoimmune diseases was captured to determine the cut-off point for high IFN-γ levels. In this study, SLE patients with high IFN-γ levels were considered as cases (cut-off > 15.6 pg/mL), and SLE patients with normal IFN-γ levels were considered as controls (cut-off ≤ 15.6 pg/mL). Disease activity was identified from the systemic lupus erythematosus disease activity index (SLEDAI). For the determination of levels of cytokines IFN-γ, IL-12, and IL17A, commercial ELISA kits were used. Genotyping of STAT4 rs7574865 (G > T) was performed by quantitative polymerase chain reaction (qPCR) using TaqMan probes. Results-The patients with SLE had a median age of 45 years with a range of disease duration from 4 years to 18 years; 45.6% were identified as having disease activity. In this sample, we identified a high IFN-γ prevalence of 35.4%. The levels of IFN-γ were higher in the patients with genotype TT than GG. We found that TT genotype conferred a higher risk of high IFN-γ when compared to the GG and GT genotypes. Conclusions-In this study, we identified that the polymorphic genotype TT of the STAT4 gene rs7574865 polymorphism is associated with increased levels of IFN-γ. However, its strength of association was weak, so complementary studies are needed to evaluate its impact on SLE patients.

ONE-CARBON METABOLISM GENE POLYMORPHISM CORRELATE WITH LEVELS OF DNA METHYLTRANSFERASES IN PATIENTS WITH MIGRAINE

Migraine is a common, disabling disorder characterized by attacks of 4 to 72 h of severe headache and associated autonomic and neurological symptoms. In the present study we analyzed the expression of DNMT1, DNMT3a, and DNMT3b in patients with migraine compared with healthy controls as well as the association between the levels of DNMTs and the LINE-1 methylation status in migraine patients with MTHFR C677T variant. Materials and Method: A total 48 individuals were enrolled in this study (24 patients with migraine and 24 age-matched healthy controls). The study protocol was approved by the Ethics Committee of Tbilisi State Medical University. Results: We observed that methylation of LINE-1 were correlated with the levels of DNMT3a in migraine. In addition, levels of DNMT1, DNMT3a and DNMT3b in patients with TT genotypes of MTHFR gene rs1801133 polymorphism were significantly lower compared with individuals with CC genotypes. Conclusions: Differential levels DNMTs may play an important role in the pathogenesis of migraine. Further investigation of enzymes involved in DNA methylation with larger number of samples may provide important insight into the development of novel treatments for episodic and/or chronic migraine.

Estimating the role of single-nucleotide polymorphism (rs1800629)-308 G/A of TNF-alpha gene as genetic marker associated with angina pectoris in a sample of Iraqi patients

BackgroundAngina pectoris (AP) occurs when oxygen and other nutrients are insufficient to meet the metabolic needs of the heart muscle. Stable angina is the most common, while the unstable angina is less frequent. Tumor necrosis factor alpha (TNF-alpha) is a pleiotropic cytokine plays a vital function in the immune response regulation. TNF gene cluster contains many polymorphisms; the most commonly investigated polymorphism is the rs1800629 SNP. This SNP, located at − 308 position with regard to the TNF promoter region, replaces guanine (G) with adenine (A), with the allelic types − 308 G/A, and has been linked to a variety of inflammatory condition and autoimmune diseases. The − 308 G/A SNP was investigated in AP and interconnected to the TNF level to figure out the responsibilities of TNF-alpha gene polymorphism in the pathogenesis of AP. MethodThe current work design as a case–control study that involves 300 participant divided to 200 patients evaluated as (stable angina n = 100 and unstable angina n = 100) compared with 100 apparently healthy control subjects. The serum level of TNF-alpha was assessed via enzyme-linked immunosorbent assay (ELISA)/sandwich method. The genotype and allele frequency distribution of TNF-alpha rs1800629 gene polymorphism were investigated by TaqMan probe of allelic discrimination method. ResultsThe levels of TNF-alpha were significantly higher in patients with stable and unstable angina pectoris in comparison with controls. The deviation from Hardy–Weinberg equilibrium (HWE) of TNF-alpha genotypes was obvious in control and unstable angina pectoris groups. Moreover, the significant differences between patients with AP and controls under the five genetic models consider the association between TNF-alpha (rs1800629) − 308 G/A and AP with OR > 1. However, data analysis of allelic and genotypic of (rs1800629) − 308 G/A revealed higher significantly differences of GG homozygous and GA heterozygous proportions between stable angina patients and control. The A allele was more represented as etiological allele, and G allele was represented as protective allele. The serum levels of TNF-alpha were significantly higher in subjects with genetically mutated AA genotypes than in subjects with wild GG genotypes in the study groups. ROC curve analysis found the best cutoff value of TNF-alpha level was 77.25 pg/ml. ConclusionAs the results, our data observed a linked of TNF-alpha (rs1800629) − 308 G/A genetic variant with angina pectoris patients, and the A allele has been linked to the production or expression of TNF-alpha serum level and represented an etiological factor of angina pectoris.

Association of <i>VEGF</i> gene rs699947 and rs2010963 polymorphisms with vascular endothelial growth factor levels in the blood serum of children with lupus nephritis

The growth factor genes VEGF and TGFB1 are involved in the normal functioning of the kidneys, and some polymorphic loci of these genes determine a genetic predisposition to the autoimmune diseases, including systemic lupus erythematosus (SLE) and its dangerous complication, lupus nephritis (LN). The products of these genes, in particular, the vascular endothelial growth factor protein and the transforming growth factor β1 protein are used in clinical practice as markers of endothelial dysfunction for early diagnosis of kidney pathology. However, the relationship between the expression of these proteins and the genotypes/alleles of the polymorphic loci of these genes has not been studied enough, which requires clarification of this issue for the child population of Belarus. In this work, we analyzed the associations of the TGFB1 (rs1800469) and VEGF (rs699947 and rs2010963) gene genotypes with the concentration of their products in the blood serum of patients with LN during exacerbation and remission of the disease. The study did not find a significant relationship between polymorphic variants of the TGFB1 gene (rs1800469) and levels of its product in the blood. An association has been established between the rs699947 and rs2010963 polymorphic variants of the VEGF gene and the serum concentration of the gene product in pediatric patients with LN during exacerbation. It was found that the homozygous minor genotype AA of the polymorphic locus rs699947 and the group of genotypes GC + CC containing at least one minor allele of the locus rs2010963 are associated with higher levels of the gene product in the blood serum of children with LN during disease exacerbation (p < 0.001 and p = 0.036, respectively). Thus, VEGF polymorphic variants associated with an increased concentration of the gene product in the blood serum during disease exacerbation can be considered as markers of the risk of disease exacerbation in patients with LN.

Linkage disequilibrium block single-nucleotide polymorphisms in FTO alpha ketoglutarate dependent dioxygenase gene inference with breast cancer and Type II diabetes in Pakistani female population.

Breast Cancer and Diabetes Mellitus are top ranked non-communicable life threatening diseases concerned in South Asia. The growing scientific clues witness the involvement of genetic variations which readily serve as risk factors for the disease onset. Comprehending the association of genetic predictors and risk factors in the conserved genome regions can help reveal underlying disease genetics and identify the sustained druggable targets. The present study aims to identify discrete inference of FTO alpha-ketoglutarate dependent dioxygenase gene linkage disequilibrium block SNPs rs9940128 and rs9939609 as prognostic genetic elements in defining the disease course either as BrC or NIDDM in Pakistani population. Clinically abreast female Breast Cancer and Type II (Non-Insulin Dependent) Diabetes Mellitus cases with the healthy controls participated in the study. The genomic study was established on the DNA of cases and controls through Tetra primers ARMS PCR and PCR-RFLP; data were analyzed statistically to reach comprehensive scientific annotation. Breast Cancer incidence was high in post menopause women. Fretful cholesterol, triglycerides, hypertension, sugar profiles and high incidence in females was evident in Type II (Non-Insulin Dependent) Diabetes Mellitus. BMI and family history were meager factor for either of the diseases. FTO gene alpha-ketoglutarate dependent dioxygenase linkage disequilibrium block Single-Nucleotide Polymorphism rs9939609 and rs9940128 threating inference was significant in the cancer and diabetes subjects correspondingly. The conclusion indicates serious clinical derailments in breast cancer and Type II (Non-Insulin Dependent) Diabetes Mellitus auxiliary to disease complication in genetically risk bearing FTO alpha-ketoglutarate dependent dioxygenase gene haplotype/linkage disequilibrium block SNPs prevailing in the affected Pakistani population. These clinical and genetic indicators could decisively be adopted in health care practice to intervene the sky rising disease incidence.

Polimorfizam gena MTHFR rs1801133 i podložnost leukemiji u detinjstvu u kineskoj populaciji

Background: The purpose of this study is to investigate the genotype and allele distribution of MTHFR rs1801133 in the Chinese population, and to analyze the relationship between gene polymorphism of MTHFR rs1801133 and risk of childhood leukemia. Methods: Blood samples and clinical data of childhood leukemia cases (n=1132) and age-matched healthy controls (n=1053) were collected. Genotypes and allele distribution of MTHFR rs1801133 were detected by PCR-RFLP. Logistic regression model was generated to analyze the relation between MTHFR rs1801133 and susceptibility to childhood leukemia and the chemotherapy response. Results: Age, sex, BMI and family history of tumor were comparable between childhood leukemia cases and healthy controls. Genotypes and allele distribution of MTHFR rs1801133 were remarkably correlated to the risk of childhood leukemia. Genotype risk of MTHFR rs1801133 was parallel to the susceptibility to childhood leukemia. Specifically, compared with people carrying AA allele of MTHFR rs1801133, higher risk of childhood leukemia may occur in people carrying AG+GG allele of MTHFR rs1801133 with a younger age (<15 years) or complete remission from chemotherapy. Conclusions: MTHFR rs1801133 gene polymorphism has a significant correlation with childhood leukemia. It is an important genetic susceptibility gene of childhood leukemia. The reliability of the results requires to be further validated by the high-quality research involving a large sample size in multi-center hospitals.

BDNF gene RS6265 polymorphism in patients with multiple sclerosis of Tomsk region

To study the effect of the RS6265 polymorphism of BDNF gene on the risk of development, main clinical characteristics and DMT response in MS patients in Tomsk region. The study group included 321 patients, the control group consisted of 266 healthy volunteers. Deoxyribonucleic acid (DNA) was isolated from venous blood using the standard phenol-chloroform method. Genotyping was carried out by real-time polymerase chain reaction (PCR) using competing TaqMan probes complementary to the polymorphic nucleotide sequence. Carriage of the C allele and CC genotype of the RS6265 polymorphism of the BDNF gene was found to be a factor determining a more favorable MS course. Carriers of the indicated genotype had a low rate of MS progression, a lower frequency of relapses and a less pronounced degree of disability with a comparable MS duration, and significantly more often demonstrated a more optimal response to first and second line of DMT.

Association of Transcription Factor 7 Like 2 (TCF7L2) ( rs7903146) Gene Polymorphisms with Some Trace Elements in the Type 2 Diabetes Mellitus Patients in Al-Najaf Governorate

The widespread prevalence of diabetes has led to a serious health risk for humans. Hyperglycemia is a hallmark of diabetes. Assessing the relation of TCF7L2 gene polymorphism (rs7903146) on the occurrence of T2DM in the Alnajaf population, and evaluating the impact of this investigated SNP on phenotypic parameters like BMI, fasting blood sugar(F.B.S), lipid profile , Mg and Zn. A case-control study of 800 individuals (400 T2DM and 400 apparently healthy control individuals) was done. The laboratory work was carried out in the laboratory of Department of Clinical Laboratory Sciences in the Faculty of Pharmacy and in the laboratory of Department of Chemistry in the Faculty of Sciences / the University of Kufa. DNA from whole blood was extracted and genotyping of TCF7L2 gene (rs7903146) polymorphism polymorphisms were carried out by RFLP –PCR. The results of this study showed that there is a significant association between the transcription factor 7-like 2 (TCF7L2) gene polymorphisms rs7903146 gene polymorphism with T2DM in the Alnajaf population. TCF7L2 gene polymorphism (rs7903146) did not show any major changes in relation to BMI, FSG, cholesterol, HDL-C, VLDL-C, or T.G, but there were significant changes in LDL, magnesium, and zinc.

The effects of FTO gene rs9939609 polymorphism on the association between breast cancer and dietary intake.

Breast cancer (BC) is the leading cause of cancer-related deaths in females worldwide and is related to genetic and environmental factors. Dietary components may strongly influence the risk of BC. A possible association was also reported between the fat mass and obesity-associated (FTO) single-nucleotide polymorphisms (SNPs) and BC. This study aimed to investigate the impact of FTO rs9939609 polymorphism on the association between BC and dietary intake. This study was conducted on 180 women with BC as the case group and 360 healthy women as the control group. The dietary intakes were assessed by a valid 168-item food frequency questionnaire (FFQ). The FTO gene was genotyped for rs9939609 polymorphism. After adjusting the confounding variables, there was no significant association between dietary intake and BC in individuals without risk allele. A positive association between dietary intake of omega-6 fatty acids and BC was found only in individuals with risk allele of FTO gene (OR: 1.31, 95% CI: 1.08-1.60, p: 0.006). FTO gene risk allele may influence the effect of diet on breast cancer risk. Further studies are needed to assess the possible effects of the FTO genotype on the association between BC risk and dietary components.

The Effect of Association between Fat Mass and Obesity-associated Gene Polymorphism (rs9939609) on the Body Composition of Older People: A Systematic Review.

The aging population is growing faster than any other age group worldwide. Associated with aging, the prevalence of overweight and obesity is a potential risk factor for the development and aggravation of numerous pathologies. A genetic factor often associated with obesity is the fat mass and obesity-associated (FTO) (rs9939609) gene polymorphism, which has been extensively investigated in children, young, and adults. However, few studies have been carried out on the older population. This review aimed to verify the influence of the FTO (rs9939609) gene polymorphism on the body composition of the older population. We conducted a systematic review and meta-analysis on PubMed, Scielo, and LILACS databases. Statistical analysis for meta-analysis was performed using mean values of Body Mass Index (BMI) and standard deviations. The results did not show significant differences between FTO genotypes and BMI values (-0.32, 95% CI -0.45 to -0.19, I2 = 0%, p = 0.52). However, 59% of the studies identified some influence on body composition, obesity, or comorbidities. Few publications verify FTO polymorphism effects on specific groups of the older population, suggesting a reduction in the influence of this gene on the BMI with advancing age. However, we believe that more controlled studies in older populations should be performed.

ЭФФЕКТИВНОСТЬ ЛЕЧЕНИЯ ЖЕНЩИН С ПОСТМЕНОПАУЗАЛЬНЫМ ОСТЕОПОРОЗОМ В ЗАВИСИМОСТИ ОТ ПОЛИМОРФИЗМА RS2234693 ГЕНА ЭСТРОГЕНОВОГО РЕЦЕПТОРА 1 ТИПА

Pharmacogenetic testing, that is promising technology for personalized medicine, is already being introduced into clinical practice. Pharmacogenetic approach is especially necessary when prescribing treatment for patients with osteoporosis, because anti-osteoporotic drugs effect can be assessed only after 12 months or more after therapy start. On this basis, aim of study was to estimate alendronic acid effectiveness in women with postmenopausal osteoporosis depending on rs2234693 polymorphism of estrogen receptor type 1 gene (ESR1). Material and methods. 136 patients were included to research. The studies in women were performed twice - before and 12 months after osteoporosis treatment, that included alendronic acid standard doses. Evaluation of 12-month therapy effectiveness was carried out according to bone mineral density increase based on X-ray osteodensitometry. Genotype of rs2234693 polymorphism of ESR1 gene was determined by real-time PCR. Results. Women with postmenopausal osteoporosis after alendronic acid 12-month course demonstrated significant (p<0.001) mineral density increase in various parts of skeleton - lumbar vertebrae L1-L4 (4.26% [1.00; 6.95]), left proximal region and femoral neck (2.76% [0.00; 5.95] and 2.42% [-1.41; 5.53], respectively) and right ones (3.76%[-0.20; 6.65] and 3.27% [0.00; 7.18], respectively). Patients with TT genotype of ESR1 gene rs2234693 polymorphism had lower (p<0.05) increase in mineral density of lumbar vertebrae L1-L4 (2.53% [-0.28; 5.54]) compared to all other patients (4.71% [1.75; 8.08]) or to women with CC genotype (5.52% [1.66; 9.12]). Conclusion. rs2234693 polymorphism of ESR1 gene testing in patients with postmenopausal osteoporosis before antiosteoporotic drugs prescription should be used for individualization of treatment regimens and therapy effectiveness enhancement.