Rs9939609 Polymorphism Research Articles

Associations Between rs9939609 FTO Polymorphism With Nutrient and Food Intake and Adherence to Dietary Patterns in an Urban Argentinian Population

BackgroundThe A allele of rs9939609 polymorphism at the FTO gene has been consistently associated with higher body mass index in different populations, but conflicting results have been found regarding its contribution to food intake variability. ObjectiveThis study aimed to investigate the association between this genetic variant and nutrient and food intake in an urban Argentinian population. DesignA cross-sectional, analytic investigation was performed between October 2018 and February 2020. Participants/settingsAdults of both sexes residing in La Plata, Argentina, were recruited through social networks (Instagram and Facebook). Of 179 eligible adults, a total of 173 adults were included in the final analyses. Outcome measuresNutrient and food group intake data were obtained by an interview-administered food frequency questionnaire. Height and weight were measured, and genotypes were obtained by real-time polymerase chain reaction. Statistical analysesThe per-allele effect on nutrient and food group intake was assessed by general linear models, adjusting for age, sex, educational level, total energy intake, and body mass index. Dietary patterns were derived by principal component analysis. The association of the A allele with adherence to each dietary pattern was also evaluated by the general linear model. ResultsThe frequency of the risk allele was 27%. A-carriers showed a higher total fat (1.88 [0.55, 3.21] % of total energy intake), saturated fatty acids (0.82 [0.25–1.39] % of total energy intake), and monounsaturated fatty acids (0.66 [0.08, 1.24] % of total energy intake), and a lower carbohydrate (−1.99 [−3.48, −0.50] % of total energy intake) intake than TT homozygous. A-carriers also reported a higher “milk and yogurt” (1.08 [0.24, 1.91] % of total energy intake), “animal fats” (1.09 [0.14–2.03] % of total energy intake), and fat-rich ultraprocessed foods (2.10 [0.52, 3.67] % of total energy intake) intake in comparison with TT homozygous. Furthermore, A-carriers showed higher adherence to the Western dietary pattern. ConclusionThe A allele contributed to nutrient and food intake variability in the studied population and was associated with the consumption of saturated fatty acids–enriched foods.

Sex-specific impact of GCKR rs1260326 polymorphism on metabolic traits in an older Japanese population: the Bunkyo Health Study.

Metabolic syndrome involves health problems influenced by aging and genetics. The glucokinase regulatory protein (GCKR) rs1260326 polymorphism (Leu446) is associated with metabolic traits. This study explores the impact of the GCKR rs1260326 polymorphism on metabolic traits in older Japanese with focusing on sex-specific differences. This cross-sectional study from the Bunkyo Health Study in Tokyo, Japan, examined 883 participants aged 65-84 years. Participants were excluded with diabetes, or on drug treatment for diabetes or dyslipidemia. The GCKR P446L polymorphism was analyzed and compared their characteristics of physical activity, dietary intake, body composition, and metabolic parameters. Study participants with GCKR rs1260326 genotypes (C/C 20.7%, C/T 47.6%, T/T 31.7%) had a median age of 72 years, and 60.4% were women. Men with the T/T genotype, as compared to the C/C genotype, had a lower body weight, body mass index (BMI), and skeletal mass index. This genotype also associated with lower fasting insulin, homeostasis model assessment of insulin resistance index (HOMA-IR), and higher Matsuda index, but not after adjustment for age, BMI, and physical activity. In contrast, women with the T/T genotype, compared to the C/C genotype, showed higher C-reactive protein, fibroblast growth factor 21, and Matsuda index. They also had lower fasting insulin, insulin area under the curve, and HOMA-IR; with these associations being independent of age, BMI, and physical activity. The GCKR rs1260326 genotype-affected metabolic traits differentially by sex in older Japanese. This highlights the need to consider sex differences in GCKR-related metabolic outcomes.

Association between Transcription Factor 7-Like 2 Gene Polymorphisms rs7903146 and rs12255372 with the Risk of Diabetic Nephropathy among South Indian Population

Abstract Introduction: Transcription factor 7-like 2 (TCF7L2) gene has been associated with the genetic predisposition of type 2 diabetes mellitus (T2DM) and diabetic nephropathy (DN) in different populations. The study aimed to explore the correlation between rs7903146 and rs12255372 polymorphisms of TCF7L2 gene and DN among the South Indian population. Methods: Polymerase chain reaction (PCR)-based direct sequencing method and allele-specific PCR were used to determine the genotypes of TCF7L2 polymorphisms in 20 normal glucose tolerance (NGT) participants, 35 T2DM patients without DN and 35 T2DM patients with DN. The differences in genotype and allelic distribution between the study groups were analyzed by Chi-square test and odds ratio (OR) with 95% confidence interval (CI) which were used to indicate the relative risk of DN. Results: The distribution of TCF7L2 gene polymorphism rs7903146 prevalence was as follows: in the NGT group, CC, 65%; CT, 30%; TT, 5%; in the T2DM without DN group, CC, 25.71%; CT, 62.86%; TT, 11.43%; and in the T2DM with DN group, CC, 31.43%; CT, 60.0%; TT, 8.57%. The distribution of rs12255372 was as follows: in the NGT group, GG, 80%; GT, 15%; TT, 5%; in the T2DM without DN group, GG, 42.86%; GT, 41.46%; TT, 8.57%; and in the T2DM with DN group, GG, 48.57%; GT, 40%; TT, 5.71%. The T allele of rs7903146 polymorphism was associated with an increased risk of T2DM without DN (OR = 3.0; 95% CI = 1.21–7.437; P = 0.010) and T2DM with DN (OR = 2.51; 95% CI = 1.00–6.252; P = 0.04), and the T allele of rs12255372 polymorphism was also associated with increased risk of T2DM without DN (OR = 3.42; 95% CI = 1.18–9.902; P = 0.018) and not with T2DM with DN when compared with NGT individuals. Conclusion: In our study, the T allele of the rs7903146 single-nucleotide polymorphism in the TCF7L2 gene confers the risk of developing DN in diabetes patients, but the T allele of the rs12255372 polymorphism in the TCF7L2 gene is associated with T2DM and its association with DN is arbitrated through T2DM.

PVUII (RS2234693) POLYMORPHISM OF THE ESTROGEN RECEPTOR ALPHA GENE IN WOMEN FROM SUMY OBLAST, UKRAINE, WITH ENDOMETRIAL HYPERPLASTIC PROCESS

Introduction. The endometrial hyperplastic process is an estrogen-dependent benign condition of the uterus, which is frequently a cause of infertility, ovarian-menstrual cycle disorders, and malignant transformation into uterine cancer. The effect of estrogen on the endometrium is realized through the estrogen receptor alpha. It is manifested by a whole range of biological changes, including cell reproduction and growth, tissue development, etc. Estrogen receptor alpha is encoded by the ESR1 gene, which is located on chromosome 6q25 and has eight exons and seven introns. Today, about 9,000 polymorphisms of the ESR1 gene have been described, some of which are associated with gene activity changes. Such functional polymorphisms include the PvuII polymorphism (rs2234693), which occurs due to the substitution of thymine (T) for cytosine (C) in the first intron of the gene. Objective. The purpose of this study was to assess the frequency of allelic variants of the estrogen receptor alpha gene for the PvuII polymorphism in patients with endometrial hyperplastic process living in the Sumy Oblast of Ukraine and to study its relationship with the histological variant of endometrial hyperplastic process, anthropometric parameters, age categories, medical history, and concomitant diseases. Materials and Methods. Genomic DNA was isolated from blood samples of 95 women with endometrial hyperplastic processes and 80 healthy women. The rs2234693 polymorphism was studied using a polymerase chain reaction with subsequent restriction fragment length polymorphism analysis (PCR-RFLP). The data were processed and statistically analyzed with Microsoft Excel and SPSS Statistics 29.0 for Windows software package. Descriptive statistics, Student's test, ANOVA method, and Pearson's chi-squared test were used in this study. Results with P < 0.05 were considered statistically significant. Results. The distribution of genotype variants for the PvuII polymorphism of the ESR1 gene in women with endometrial hyperplastic process was: homozygotes for the major allele (T/T) – 31.6%, heterozygotes (T/C) – 49.5%, homozygotes for the minor allele (C/C) – 18.9%; in the control group, these values were 30%, 52.5%, and 17.5%, respectively. There was no difference in the distribution of genotypes in patients with endometrial hyperplastic processes and healthy women (χ2 = 0.163, P = 0.922). No associations were found between the PvuII polymorphism and the histological variant of endometrial hyperplastic processes (χ2 = 4.14, P = 0.387), anthropometric parameters (P > 0.05), age (χ2 = 2.98, P = 0.560), medical history (P > 0.05), or concomitant genital and extragenital conditions (P > 0.05). Conclusions. There was no difference in the distribution of T/T, T/C, and C/C genotypes for the PvuII polymorphism in the estrogen receptor alpha gene between patients with endometrial hyperplastic process and the control group. There was no correlation between the genotype variant for the studied polymorphism and the histological variant of the endometrial hyperplastic process, anthropometric parameters, age, medical history, concomitant genital and extragenital conditions in patients of the Sumy Oblast, Ukraine.

The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review.

This umbrella review was conducted aiming to assess the association between genetic variations and the development of diabetic retinopathy (DR) by collecting and evaluating available systematic reviews and meta-analysis results. We evaluated the methodological quality using the Measurement Tool to Assess Systematic Reviews (AMSTAR) 2.0, estimated the summary effect size by using the random effects model and calculated the 95% prediction intervals (PIs). Evidence from the included meta-analyses was graded according to established criteria as follows: convincing, highly suggestive, suggestive, weak, or not significant. This umbrella review included 32 meta-analyses of 52 candidate SNPs. The 12 selected meta-analyses were rated as "high," 2 studies were rated as "moderate," 11 studies were graded as "low," and the remaining 7 studies were graded as "critically low" in terms of methodological quality. Carriers of specific genotypes and alleles of the transcription Factor 7-like 2 C/T (TCF7L2 C/T) polymorphism (rs7903146, p < 0.001) might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were supported by "convincing" evidence. Significant associations were also found between interleukin-6 (IL-6) -174 G/C (rs1800795; p < 0.05) or vascular endothelial growth factor (VEGF) polymorphisms (rs2010963, rs699947, rs1570360, rs2010963, rs699947, rs2146323; all p values <0.05) and DR risk, but these associations were supported by "weak" evidence. The TCF7L2 C/T variant could be identified as a definitive genetic risk factor for the development and progression of DR. Data from additional in-depth studies are needed to establish robust evidence for the associations between polymorphisms of IL-6 or VEGF and DR.

Correlation between ENPP1 Gene rs1044498 Polymorphism with the Risk of Type 2 Diabetes Mellitus: A Meta-Analysis.

Correlation between ENPP1 Gene rs1044498 Polymorphism with the Risk of Type 2 Diabetes Mellitus: A Meta-Analysis.

Analysis of Single Nucleotide Polymorphisms (SNPs) rs2234693 and rs9340799 of the ESR1 Gene and the Risk of Breast Cancer.

The aim of this study was to analyze rs2234693 and rs9340799 polymorphisms of the ESR1 gene in the context of breast cancer risk in Polish patients. The study involved a group of 117 patients with breast cancer and 106 controls. The analyses were carried out using the polymerase chain reaction - restriction fragments length polymorphism technique. The presence of the CC genotype in rs2234693 more than doubled the risk of breast cancer (p=0.04), whereas the presence of the TT genotype in rs2234693 significantly reduced the risk of developing this type of cancer (p=0.0002). The presence of the GG genotype in rs9340799 more than doubled the risk of breast cancer (p=0.04), which was confirmed by the analysis of the recessive model (p=0.04). The polymorphisms rs2234693 and rs9340799 of the ESR1 gene may be associated with the risk of breast cancer among Polish women.

The Levels of Serum Leptin and TNF-α in Patients with Alcoholic Liver Disease in the Alcoholic Indian Population

ABSTRACT Alcoholic liver disease, resulting from chronic alcohol use, includes conditions like fatty liver, alcoholic hepatitis, and cirrhosis. This study assessed TNF-α and leptin levels in 45 alcoholic liver disease patients, explored their relationship, and examined the rs1137101 polymorphism in the leptin receptor gene. Participants (mean age 40.13 ± 10.36) had consumed alcohol for an average of 15.31 ± 9.49 years at a daily intake of 253.33 ± 118.25 mL. TNF-α increased with age, while no age-leptin correlation was observed. TNF-α and leptin showed a negative correlation. The study identified a 48% minor allele G frequency for rs1137101. The findings highlight a significant correlation between TNF-α and leptin levels in alcoholic liver disease, suggesting potential roles as inflammatory mediators. More prospective studies are needed to enhance our understanding of these factors and improve disease management, potentially reducing morbidity and mortality rates.

From the reward network to whole-brain metrics: structural connectivity in adolescents and young adults according to body mass index and genetic risk of obesity.

Obesity is a multifactorial condition. Genetic variants, such as the fat mass and obesity related gene (FTO) polymorphism, may increase the vulnerability of developing obesity by disrupting dopamine signaling within the reward network. Yet, the association of obesity, genetic risk of obesity, and structural connectivity of the reward network in adolescents and young adults remains unexplored. We investigate, in adolescents and young adults, the structural connectivity differences in the reward network and at the whole-brain level according to body mass index (BMI) and the FTO rs9939609 polymorphism. One hundred thirty-two adolescents and young adults (age range: [10, 21] years, BMI z-score range: [-1.76, 2.69]) were included. Genetic risk of obesity was determined by the presence of the FTO A allele. Whole-brain and reward network structural connectivity were analyzed using graph metrics. Hierarchical linear regression was applied to test the association between BMI-z, genetic risk of obesity, and structural connectivity. Higher BMI-z was associated with higher (B = 0.76, 95% CI = [0.30, 1.21], P = 0.0015) and lower (B = -0.003, 95% CI = [-0.006, -0.00005], P = 0.048) connectivity strength for fractional anisotropy at the whole-brain level and of the reward network, respectively. The FTO polymorphism was not associated with structural connectivity nor with BMI-z. We provide evidence that, in healthy adolescents and young adults, higher BMI-z is associated with higher connectivity at the whole-brain level and lower connectivity of the reward network. We did not find the FTO polymorphism to correlate with structural connectivity. Future longitudinal studies with larger sample sizes are needed to assess how genetic determinants of obesity change brain structural connectivity and behavior.

Coffee consumption affects kidney function based on GCKR polymorphism in a Korean population

Kidney function can be preserved through pharmacological interventions and nonpharmacological strategies, such as lifestyle and dietary adjustments. Among these, coffee has been linked to protective effects on kidney function. However, few studies have investigated the effect of coffee consumption on kidney function according to specific genes. We hypothesized that the impact of coffee consumption on kidney function might vary depending on GCKR polymorphism. GCKR rs1260326 polymorphism was examined using the Korean genome and epidemiology data from 656 chronic kidney disease (CKD) cases and 38,540 individuals without CKD (non-CKD). GCKR polymorphism has been previously associated with both coffee consumption and kidney function in Europeans. We replicated the associations between GCKR rs1260326 and coffee consumption and kidney function in Korean individuals. We also explored the effect of coffee consumption on kidney function by multivariate logistic regression analysis. Individuals with the rs1260326 (TC/CC) genotype did not experience significant changes in CKD risk based on their coffee consumption habits. In contrast, individuals with the TT genotype exhibited a significantly lower risk of CKD based on coffee consumption. Interestingly, in the non-CKD group, a beneficial effect on estimated glomerular filtration rate was observed in individuals with the T allele as coffee consumption increased. Our findings supported the hypothesis and revealed that the impact of coffee consumption habits on kidney function may vary based on the GCKR rs1260326 genotype of Korean individuals.

Minor alleles of FTO rs9939609 and rs17817449 polymorphisms confer a higher risk of type 2 diabetes mellitus and dyslipidemia, but not coronary artery disease in a Chinese Han population.

Relationships of the polymorphisms in fat mass and obesity-associated gene (FTO) and peroxisome proliferator-activated receptor delta gene (PPARD) with metabolic-related diseases remain to be clarified. One thousand three hundred and eighty-one subjects were enrolled. Metabolic-related diseases including obesity, dyslipidemia, hyperhomocysteinemia, hyperuricemia, hypertension, type 2 diabetes mellitus (T2DM) and coronary artery disease (CAD) were defined based on diagnostic criteria. FTO rs9939609 and rs17817449, and PPARD rs2016520 and rs2267668 polymorphisms were genotyped by using polymerase chain reaction-restricted fragment length polymorphism method. Patients with T2DM or dyslipidemia had a higher frequency of AA, AT or AA + AT genotypes as well as A allele of FTO rs9939609 polymorphism than those free of T2DM or dyslipidemia (P ≤ 0.04 for all). Patients with T2DM or dyslipidemia had a higher frequency of GG, GT or GG + GT genotypes as well as G allele of FTO rs17817449 polymorphism than those free of T2DM or dyslipidemia (P ≤ 0.03 for all). Multivariate logistic regression analyses showed that FTO rs9939609 and rs17817449 polymorphisms were independently associated with T2DM as well as dyslipidemia after adjustment for age, sex, smoking and other metabolic diseases. FTO rs9939609 and rs17817449 polymorphisms were not associated with obesity, hyperhomocysteinemia, hyperuricemia, hypertension and CAD. Obese or T2DM carriers of the AA or AT genotype of the FTO rs9939609 polymorphism had a higher prevalence of dyslipidemia compared to non-obese or non-T2DM carriers of the AA or AT genotype (P = 0.03 for both). Among the carriers of GG or GT genotype of the FTO rs17817449 polymorphism, the prevalence of dyslipidemia in obese patients was higher than that in non-obese subjects (P < 0.01). PPARD rs2016520 and rs2267668 polymorphisms were not correlated with any of the metabolic-related diseases in the study population. Minor alleles of FTO rs9939609 and rs17817449 polymorphisms confer a higher risk of T2DM and dyslipidemia, and the risk is further increased among obese individuals. PPARD rs2016520 and rs2267668 polymorphisms are not associated with metabolic-related diseases.

Lack of association between IGF2BP2 genes (rs4402960 and rs11705701) polymorphism and type two diabetes mellitus.

Background: The most frequent illness in the world is chronic disease. Diabetes type 2 is mostly caused by autoimmune disease, -cell dysfunction, and obesity. IGF2BP2 is one of the genes related to T2DM identified through GWAS (Genome-Wide Association Studies), and it has been confirmed in a range of ethnic groups.Material and methods : The samples were collected from AL Sadder Hospital's core medical city in Najaf. rs 4402960 and 11705701 of IGF2BP2 Allele-specific polymerase chain reaction T-ARMS-PCR was utilized to measure polymorphism in patients and controls (case_ control study). The statistical analysis was carried out using SPSS software.Results : There is no difference between patients and control subjects in the genotyping of (rs4402960) in the IGF2BP2 gene (p&gt;0.05), and there is no difference between patients and control in the genotyping of (rs11705701) in the IGF2BP2 gene (p&gt;0.05).Conclusion : Our results showed no association between The IGF2BP2 gene Polymorphisms (rs4402960 G/T and rs11705701 G/A) and T2DM patients.

Association of &lt;i&gt;VEGFA&lt;/i&gt; gene rs2010963 polymorphism with cervical cancer and its progression

Background: Cervical cancer is the most common type of female genital malignancies. In Russia, its incidence is 17 to 19 cases per 100,000 of female population. Cervical cancer is characterized by high activity, rapid development of radio/chemoresistance and unfavorable prognosis. To assess the risk of recurrence, metastasis and choice of the optimal treatment strategy, factors related to the disease progression are under study. Vascular endothelial growth factor (VEGF) overexpression is related to tumor angiogenesis and poor outcome in various cancer types, including cervical cancer.&#x0D; Aim: To study an association between the rs2010963 polymorphism of the VEGFA gene and risk of development and progression of cervical cancer.&#x0D; Materials and methods: This case-control study included 120 women (aged 49 [42; 65] years) with cervical cancer stage I-II and 112 women without cervical or other types of cancer. Based on the results of histological examination, two subgroups were formed: the one with tumor emboli (TE+) in the tumor vasculature and surrounding tissues (n = 41, 34.17%) and the other without tumor emboli (TE-) (n = 79, 65.83%). The polymorphic DNA loci of the rs2010963 VEGFA gene were analyzed by real time polymerase chain reaction.&#x0D; Results: In the patients, cervical cancer has associated with the VEGFA gene allelic polymorphism rs2010963 (χ2 = 5.47; p = 0.021). The minor C allele increased risk of cervical cancer by 1.6-fold (odds ratio (ОR) 1.58, 95% confidence interval (CI) 1.08-2.31), and the ancestral G allele reduced the cervical cancer probability (ОR 0.63, 95% CI 0.43-0.93). The genotypes distribution in the dominant model (GG and GC + CC) confirmed the association of the rs2010963 VEGFA gene polymorphism with cervical cancer (χ2 = 4.73; p = 0.031), specifically, if there was a minor C allele in the genotype (GC + CC). We found that the association of the rs2010963 VEGFA gene polymorphism with TE in the tumor vessels and surrounding tissues was a predictor of unfavorable progression and metastasis of cervical cancer (χ2 = 3.94; р = 0.049). The minor C allele increased the risk of TE by 1.7-fold (ОR 1.72, 95% CI 1.004-2.98), whereas the ancestral G allele reduced this chance (ОR 0.58, 95% CI 0.34-0.996).&#x0D; Conclusion: The C allele of the rs2010963 polymorphism of the VEGFA gene is a risk factor for cervical cancer, as well as a risk factor for the development of tumor emboli.

Fat mass and obesity-associated gene (FTO) rs9939609 (A/T) polymorphism and food preference in obese people with low-calorie intake and non-obese individuals with high-calorie intake

The purpose of this study was to assess the connection between FTO rs9939609 (A/T) polymorphism and food preference. The study included 77 participants, 36 of whom were obese and had a low-calorie intake, and 41 non-obese participants with a high-calorie intake. Using a food frequency questionnaire (FFQ), the researchers calculated sweet and fatty food propensity scores. Genomic DNA was extracted from a peripheral blood sample from all participants, and FTO rs9939609 (A/T) polymorphism was assessed using standard methods. The study found no significant differences between the two groups in terms of sweet food preference (15.64 ± 10.53 in obese groups vs. 14.72 ± 7.95 in the non-obese group, p = 0.711) and fatty food preference (16.81 ± 8.84 vs. 17.27 ± 8.75; p = 0.833). Additionally, the study did not find any significant correlation between FTO rs9939609 (A/T) polymorphism and sweet and fatty food preferences in the fully adjusted models (p > 0.05). Therefore, the results of this study do not support the hypothesis of different food preferences.

Enlightening the Correlation of Polymorphisms at FTO, LEP and LEPR Genes with Gestational Diabetes Mellitus Risk: a Meta-analysis

Background: The adverse outcomes correlated with GDM for both the mother and the offspring are diverse. The link between polymorphisms at fat mass and obesity‐correlated protein (FTO), leptin (LEP), and leptin receptor (LEPR) genes and GDM is ambiguous. In this meta-analysis, we sought to investigate the correlation of FTO, LEP, and LEPR polymorphisms with GDM risk.&#x0D; Methods: We performed an online search on PubMed, Web of Science, and Google Scholar databases to identify all relevant research.&#x0D; Results: A total of 18 case-control studies including seven research with 893 cases and 2875 controls on FTO rs9939609, four research with 1345 cases and 1116 controls on FTO rs8050136, two research with 207 cases and 205 controls on FTO rs1421085, three studies with 529 cases and 581 controls on LEP rs7799039, and two research with 480 cases and 477 controls on LPER rs1137101 met our criteria. Combined data illustrated that the FTO rs9939609 and rs8050136 were correlated with a substantial risk of GDM in the overall population, but not FTO rs1421085. Furthermore, LEP rs2167270 and rs7799039 polymorphisms were not correlated with GDM risk. Sorted analyses illustrated that the FTO rs9939609 polymorphism was correlated with GDM in Caucasian women.&#x0D; Conclusion: This meta-analysis results illustrated that the FTO rs9939609 and rs8050136 were correlated with a substantial risk of GDM, but not FTO rs1421085, LEP rs7799039, and LPER rs1137101. Larger and more rigorous studies among different ethnicities are needed to further evaluate the correlations with GDM.

Occurrence of rs9939609 polymorphism of the fat mass and obesity-associated (FTO) gene in adult pregnant women and its relationship with gestational weight gain

Occurrence of rs9939609 polymorphism of the fat mass and obesity-associated (FTO) gene in adult pregnant women and its relationship with gestational weight gain

Association Study of IGF-1 rs35767 and rs6214 Gene Polymorphisms with Cancer Susceptibility and Circulating Levels of IGF-1, IGFBP-2, and IGFBP-3 in Colorectal Cancer Patients.

Early detection of colorectal cancer (CRC) increases the 5-year survival rate by 90%; therefore, non-invasive biomarkers such as measurable circulating proteins for early detection and prognosis are crucial. Insulin-like growth factor-1 (IGF-1) is involved in the regulation of cell proliferation and apoptosis. IGF binding proteins (IGFBPs) bind and inhibit the activity of IGF-1. It was inconsistently reported that high IGF-1 and IGFBP-2 and low IGFBP-3 circulating levels are associated with high cancer risk, poor prognosis, and tumor metastasis in several cancers. A total of 175 patients with CRC and 429 controls were enrolled in this study. We genotyped for IGF-1 rs35767 and rs6214 gene polymorphisms and assessed their association with circulating levels of IGF-1 and/or the risk for CRC. We also determined plasma levels of IGF-1, IGFBP-2, and IGFBP-3. Neither rs35767 nor rs2614 were associated with cancer risk or IGF-1 levels in our study cohort. IGF-1 and IGFBP-3 levels were higher in controls than in patients, whereas IGFBP-2 was higher in patients than in controls. Only IGFBP-2 was associated with increased tumor grade but not stage. Therefore, IGF-1, IGFBP-2, and IGFBP-3 may be useful as early detection and prognostic biomarkers in CRC.

The Interaction between CD36 rs1761667 Polymorphism and Dietary Phytochemical Index on the Risk Factors Related to Metabolic Syndrome

Introduction: The aim of the study was to assess the interaction between CD36 rs1761667 and the dietary phytochemical index (DPI) on the risk factors related to metabolic syndrome (MetS) among apparently healthy adults. Methods: This cross-sectional study was conducted on 387 apparently healthy adults (aged 20–70 years) of the recruitment phase of the Yazd Health Study (YaHS). The DPI was calculated using data from a validated and reliable food frequency questionnaire. Genotyping of rs1761667 was performed by the polymerase chain reaction-restriction fragment length polymorphism method. All participants were categorized into two categories, based on DPI scores. The interactions were tested using logistic regression in adjusted and unadjusted models. Results: There was no significant association between CD36 gene polymorphism rs1761667 and MetS components, and also, the DPI score was not associated with the components of MetS. Significant interactions were observed between DPI and rs1761667 polymorphism on the odds of MetS (p = 0.05) and odds of abdominal obesity (p = 0.01) so that higher adherence to this index was associated with a low risk of MetS and abdominal obesity in individuals with AG genotype. In contrast, increased adherence to the DPI was associated with higher odds of abdominal obesity among the AA genotype. Conclusion: The AG genotype appears to be a protective factor against the risk of MetS and abdominal obesity with greater adherence to DPI. However, additional research is needed to elucidate these interactions and the mechanisms behind these associations.

Impact of miR-155 rs767649 Polymorphism on Rheumatoid Arthritis Activity in Egyptian Patients.

Rheumatoid arthritis (RA) is a chronic inflammatory condition that impacts not only the musculoskeletal system but also various other systems in the body, including the cutaneous, ocular, respiratory, cardiovascular, and circulatory systems. MicroRNAs (miRNAs) are a class of naturally occurring and highly conserved transcripts that primarily function in the regulation of gene expression. They accomplish this by facilitating the degradation of messenger RNA (mRNA) or by repressing mRNA translation. miRNAs are well-known regulators of a variety of cellular processes. Therefore, we aimed to detect the impact of miR-155 rs767649 polymorphism on RA activity. This case-control study included 66 Egyptian patients with RA who visited Al-Zhraa University Hospital, Internal Medicine Department, Cairo, Egypt, and 50 apparently healthy control subjects matched for age and sex. The participants were subjected to full clinical evaluation, including assessments of the disease activity score (DAS), erythrocyte sedimentation rate (ESR), liver and kidney function, anti-cyclic citrullinated peptide antibody (anti-CCP), and miR-155 polymorphism using real-time polymerase chain reaction (PCR). In the RA group, the majority (98.5%) were female, with a mean age of 43 years, while in the control group, 94% were female, with a mean age of 43.4 years. Comparison of laboratory parameters indicated significantly lower hemoglobin levels, higher ESR, and higher serum creatinine and anti-CCP levels in the RA group than in the control group. The RA group had a significantly higher frequency of TT genotypes and significantly lower frequencies of TA and TT genotypes than the control group. Considering the TT genotype and T allele as references, TA, AA, and TA/AA genotypes in the dominant model; AA in the recessive model; and A allele were significantly associated with protective effects against RA development (p<0.05, odds ratio<1). rs767649, the functional variant of miR-155, plays an important role in susceptibility to the increased risk of RA, suggesting that miR-155 can be used as a therapeutic target for the treatment of Egyptian patients with RA.

Investigation of rs7903146 Polymorphism in TCF7L2 Gene in Patients with Type 2 Diabetes

Investigation of rs7903146 Polymorphism in TCF7L2 Gene in Patients with Type 2 Diabetes