Frequency Of CC Genotype Research Articles

Investigating the Rrelationship between polymorphisms pd1.9 and rs7421861 of PD1 gene with breast cancer

IntroductionPD1 molecule is a regulatory protein in the immune system that is responsible for the negative induction of active T cells. The PD1 gene has many single nucleotide polymorphisms. In this study, the association of polymorphisms in the pd1.9 and rs7421861 positions of the PD1 gene with breast cancer was investigated in women with breast cancer. Materials and methodsThis experimental study was done in healthy (n = 110) and breast cancer (n = 110) women. First, 2 ml of blood were taken from groups, and the genome of white blood cells (WBCs) was extracted using a DNA extraction kit. The genotype of samples was determined in pd1.9 and rs7421861 region of PD1 gene with the help of PCR-RFLP technique. Data analysis was done by SPSS software version 19. ResultsThe analysis of the data about pd1.9 polymorphism genotypes demonstrated that the frequency of CC genotype in the control group was equal to 92.7 %; while this amount was reported as 80 % in the patient group. Regarding the CT genotype, its frequency was 19.1 % in the patient group, while this rate was 7.3 % in the control group. Also, the data showed that the frequency of TT allele is 0.9 % in the patient group and 0 % in healthy people. In the case of rs7421861, the frequency of TT genotype in the control group was equal to 56.4 %, while this rate was equal to 41.8 % in the patient group. Regarding the CT genotype, its frequency in the patient group was 48.2 %, while this rate was 36.4 % in the control group. The frequency of CC allele is 10 % in the patient group and 7.3 % in healthy people. ConclusionThe results showed that polymorphism of pd1.9 and rs7421861 in PD1 gene cannot be related to breast cancer. Therefore, determining the genotype of polymorphism in these gene regions will not be useful for screening affected people.

MIR27A rs895819 CC Genotype Severely Reduces miR-27a Plasma Expression Levels.

Background/Objectives:MIR27A rs895819 polymorphism has emerged as a potential additional pharmacogenomic marker of fluoropyrimidine response. Current evidence on its potential effect on miR-27a expression, which represses DPD activity, leading to DPD deficiency and increased fluoropyrimidine-associated toxicity risk, is scarce and inconsistent. We have analyzed the effect of MIR27A rs895819 polymorphism on miR-27a-3p plasma expression levels under different models of inheritance to contribute further evidence on its plausible biological role in miR-27a expression. Methods: A total of 59 individuals with no medical history of cancer were included in this study. MIR27A rs895819 genotyping and miR-27a-3p expression were analyzed by using predesigned TaqMan assays. Results: The frequency of TT, TC, and CC genotypes was present at a prevalence of 50.8%, 44.1%, and 5.1%, respectively. Individuals carrying the CC genotype presented with decreased miR-27a-3p expression (0.422 fold-change versus TT, p = 0.041; 0.461 fold-change versus TC, p = 0.064), whereas no differences were present between TT and TC individuals (1.092 fold-change, p = 0.718). miR-27a-3p expression was decreased in CC individuals under a recessive model of inheritance (0.440 fold-change, p = 0.047). No differences were found in dominant (TT vs. TC+CC, 0.845 fold-change, p = 0.471) or over dominant (TT+CC vs. TC, 0.990 fold-change, p = 0.996) models of inheritance. Conclusions:MIR27A rs895819CC genotype leads to severely reduced miR-27a-3p expression in plasma. Further study of this association is warranted in cancer patients to apply MIR27A genotyping in therapeutics to identify fluoropyrimidine-treated patients who are at a decreased risk of experiencing fluoropyrimidine-induced severe toxicity.

UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China

We explore the allele and genotype distribution of UGT1A1 and BLVRA variants in individuals affected by neonatal hyperbilirubinemia in southern China. Blood specimens were collected from 240 neonates: 126 cases of hyperbilirubinemia and 114 healthy controls. Serum levels of total protein, albumin, bilirubin (total and direct), urea nitrogen, creatinine, and other biochemical parameters were quantified using a biochemical analyzer. Nine UGT1A1 and five BLVRA genetic variants were genotyped using flight time mass spectrometry. The allele and genotype frequencies of these variants and their associations with neonatal hyperbilirubinemia were analyzed. The genotype frequencies of CC and CG for the UGT1A1 variant rs11888492 in the hyperbilirubinemia group were 90.48% and 9.52%, respectively (P = 0.001), in comparison with the control group. The C and G allele frequencies of rs11888492 in the hyperbilirubinemia group were 95.24% and 4.76%, respectively (P = 0.023). Similarly, in the hyperbilirubinemia group, the genotype frequencies for the UGT1A1 variant rs4148325 were 90.48% CC, 8.73% CT, and 0.79% TT (P = 0.001), with corresponding allele frequencies of 94.84% for C and 5.16% for T (P = 0.002). No notable distinctions were detected for other variants. Newborns carrying the CC genotype of rs11888492 exhibited higher total bilirubin (TBIL) levels than those carrying the GG genotype (P = 0.034), whereas newborns carrying the CC genotype of rs4148325 displayed higher TBIL levels than those carrying the CT genotype (P = 0.003). The presence of the G allele at rs11888492 was found to be significantly correlated with a decreased likelihood of developing neonatal hyperbilirubinemia (odds ratio [OR]: 0.363; 95% confidence interval [CI] 0.169–0.777). Furthermore, a substantial reduction in the risk of neonatal hyperbilirubinemia associated with the CT genotype of rs4148325 were revealed (OR = 0.242; 95% CI 0.102–0.574). Additionally, an inverse relationship was identified between TBIL concentration and the quantity of genetic variants. The UGT1A1 variants rs11888492 and rs4148325 are strongly associated with neonatal hyperbilirubinemia in southern China.

Relationship between polymorphism of GDF5 and CAPN1 genes in kalmyk breed cattle with economic and biological traits

The article presents the results of polymorphism of the GDF5 and CAPN1 genes in cattle of the Kalmyk breed, owned by the agricultural production company “Plodovitoe” of the Maloderbetovsky district of the Republic of Kalmykia, in the amount of 60 heads. DNA samples were isolated from whole blood taken from the jugular vein by an automatic extraction method. A real-time polymerase chain reaction was carried out to determine the polymorphism T586C of the GDF5 gene and C316G of the CAPN1 gene. In the studied herd of cattle, animals with the TT genotype predominate - 68.3 % of the population, the number of animals with the TC and CC genotypes is 21.7 % and 10 %. When studying the polymorphism of the CAPN1 gene, it was revealed that 23.3 % of the bulls of the studied population of Kalmyk cattle have the desired genotype CC, while the heterozygous genotype is present in 16.7 %, and the recessive genotype GG is present in 60 % of animals. The frequency of occurrence of the T allele of the GDF5 gene is 0.792, which exceeds the indicator of the C allele (0.208) by 58.2 %, the observed frequency of TT and CC genotypes exceeds the expected indicator by 5.6 and 5.7 %, respectively, while the indicator of the TC genotype is lower than the expected frequency by 11.2 %. The frequency of occurrence of the G allele (0.683) is 36.6 % higher than that of the C allele (0.317) of the CAPN1 gene. It is noted that the GG genotype with an index of 0.600 occurs with the highest frequency, while the CG genotype has a frequency of 0.167 (43.3 % less), the CC genotype – 0.233 (36.7 % less). The indicators of the observed frequency of the CC and GG genotypes are 13.3% higher than expected, the heterozygous genotype has an excess of the expected frequency by 26.6 %. Bulls with the TT genotype of the GDF5 gene outperformed their peers with the TC and CC genotypes in all measurements. When studying the live weight of Kalmyk cattle at the age of 15 months, a positive effect of the CC genotype of the CAPN1 gene was revealed. Thus, the group of animals with this genotype had the largest live weight and surpassed their peers with the genotypes CG (by 9.9 %) and GG (by 11.1 %).

Association of the Single Nucleotide Polymorphism 19216T/C in the TLR2 Gene (rs3804099) with Entamoeba histolytica/Entamoeba dispar/Entamoeba moshkovskii Infection Among Lebanese Children.

Toll-like receptors (TLRs), particularly the TLR2, take part in the elicitation of immune responses against Entamoeba histolytica. This study aimed to investigate the relationship between a specific polymorphism called rs3804099 in the TLR2 gene and E. histolytica/E. dispar/E. moshkovskii infection among Lebanese children. A case-control study encompassed 180 participants including 68 children with amebiasis and 112 matched controls. Blood samples were collected, and genomic DNA was extracted using the classical proteinase K digestion and phenol-chloroform extraction method. The variant rs3804099 was examined using the Amplification Refractory Mutation System Polymerase Chain Reaction. The accuracy of the genotyping was supported by sequencing 5% of samples. The TLR2 rs3804099 polymorphism was identified in the studied population, and the observed genotypic distributions were consistent with Hardy-Weinberg equilibrium (P > 0.05). The frequency of the rare CC genotype was significantly higher in patients compared to the noninfected group (P < 0.01). In controls, the homozygous TT genotype was less frequent than the heterozygous CT genotype. The rare CC genotype was associated with a higher risk of amebiasis among children (odds ratios = 3.27, P = 0.002). These findings provide evidence supporting the association between the rs3804099 SNP in the TLR2 gene and E. histolytica/E. dispar/E. moshkovskii infection among Lebanese children.

HLA-G rs1063320 Polymorphism with the incidence of Recurrent Spontaneous Abortion (RSA) in Iraqi Women

Recurrent spontaneous abortion is a serious complication of pregnancy caused by multiple factors. This study examined whether serum HLA-G concentrations and the HLA-G (rs1063320) SNP were associated with RSA risk. Control 48 healthy females and 48 other with idiopathic RSA were included. By using an ELISA kit for human leukocyte antigen G, the quantity of HLA-G was quantified. HLA-G serum level was 27.26 ± 0.4U/mL and 16.52 ± 0.9 U/mL in women with RSA and apparently healthy women respectively. By employing RT-PCR and the TaqMan genotyping assay, the genotypes were identified. The findings revealed significant distinction in the concentration of HLA-G between apparently healthy as compared with the RSA women. The frequency of allele G was 0.26 and 0.20 in RSA women and control respectively whilst the frequency of allele C was 0.74 and 0.80 in RSA women and control respectively indicating no statistically variations in GG, GC, CC genotype frequency rate distribution and allele frequencies among the studies groups. In conclusion, the genotypes of rs1063320 are not associated with the risk of RSA.

The Association of HIF-1α/rs2057482 Polymorphism with Idiopathic Scleritis in a Chinese Han Population

ABSTRACT Background To investigate the association of hypoxia-inducible factor-1α (HIF-1α), Janus tyrosine kinase-signal transducer and activator of transcription (JAK-STAT) gene polymorphisms with idiopathic scleritis in a Chinese Han population. Methods Ten single nucleotide polymorphisms (SNP) of HIF-1α, tyrosine kinase 2 (TYK2), signal transducer and activator of transcription 3 (STAT3), signal transducer and activator of transcription 4 (STAT4), and retinoid-related orphan nuclear receptors-γ (ROR-γ) were selected for this study. A total of 496 idiopathic scleritis patients and 1009 controls were genotyped by the MassARRAY platform and iPLEX Gold Genotyping Assay. The allele and genotype frequencies were analyzed by Chi-square test and Fisher's exact test. Stratified analyses were performed based on gender and anatomic locations of idiopathic scleritis. Results The frequencies of CC genotype (p = 6.18 × 10−4, Pc = 0.04, OR = 0.67,95%CI = 0.53–0.84) and C allele (p = 7.08 × 10−4, Pc = 0.04, OR = 0.71,95%CI = 0.58–0.87) for HIF-1α/rs2057482 were found significantly lower in idiopathic scleritis patients when compared to healthy controls. Stratified analysis depending on gender showed significant decreased frequencies of CC genotype (CC: p = 4.04 × 10−4, Pc = 0.02, OR = 0.54, 95%CI = 0.39–0.76) and C allele (C: p = 1.62 × 10−4, Pc = 0.01, OR = 0.58, 95%CI = 0.44–0.77) in male patients. Stratification analysis of rs2057482 according to location of scleritis did not show any significant difference between three subgroups and healthy controls. Conclusion This study showed association between polymorphism of HIF-1α/rs2057482 and susceptibility to idiopathic scleritis in Han Chinese male patients.

Gene Variants of Vitamin D Receptor (TaqI T &gt; C (rs731236) and BsmI G &gt; A (rs1544410) in Urolithiasis

Background: Urolithiasis is the most prevalent uronephrologic disorder caused by genetic, environmental factors, and metabolic defects. Objectives: The present study aimed to find a possible association between the vitamin D receptor (VDR) TaqI and the BsmI gene polymorphisms in relation to the serum levels of calcium (Ca) and vitamin D and the risk of urolithiasis. Methods: This case-control study was conducted on 68 children with urolithiasis and 67 healthy controls for the VDR gene polymorphisms using the polymerase chain reaction-restriction length polymorphism method. Results: The frequency of TaqI C allele was 36% in patients compared to 32.1% in controls (P = 0.49). A significantly higher frequency of the TaqI CC genotype was found among patients in the age group &gt; 5 to 10 years. No significant difference was detected in the frequency of the BsmI A allele between patients (41.9%) and controls (42.5%, P = 0.91). However, a significantly lower frequency of the BsmI AA genotype was detected compared to those patients with Ca levels of &gt; 10.8 mg/dL among patients with Ca levels of ≤ 10.8 mg/dL. Conclusions: Based on the results, a lack of an association between the VDR TaqI and BsmI polymorphisms with the risk of urolithiasis among children from Western Iran. However, a higher frequency of the TaqI CC genotype was found in the age group &gt; 5 to 10 years. In addition, lower levels of Ca in patients were related to a significantly lower frequency of the BsmI AA genotype. The VDR gene BsmI polymorphism might affect the calcium level and the calcium metabolism in urolithiasis.

Correlation Analysis between STING Promoter Polymorphism and Susceptibility to Infection after Chemotherapy for Multiple Myeloma

To investigate the correlation between the stimulator of interferon genes (STING ) promoter polymorphism and the susceptibility to infection after chemotherapy for multiple myeloma. A total of 102 patients who had undergone chemotherapy for multiple myeloma in our hospital from January 2016 to July 2022 were selected. Depending on the presence or absence of infection after chemotherapy, the enrolled patients were divided into infection group (53 cases) and non-infection group (49 cases). The infection sites and distribution characteristics of pathogenic bacteria of the infection group were analyzed. The genotype distribution of STING gene promoter rs587777609 was compared between the two groups, and the risk factors of infection after chemotherapy for multiple myeloma were analyzed. For infection site, digestive system, respiratory system, urinary system, skin and mucous membranes accounted for 43.40%, 26.42%, 20.75%, and 9.43%, respectively. For pathogenic bacteria, Gram-negative bacteria, Gram-positive bacteria and fungi accounted for 57.14%, 26.98%, and 15.87%, respectively. The CC genotype frequency of STING gene rs587777609 locus in the infection group was lower than that in the non-infection group, while the TT genotype frequency was higher than that in the non-infection group (P < 0.05). The proportions of patients with diabetes, chronic obstructive pulmonary disease, renal insufficiency, serum albumin level< 35 g/L, ISS stage III, mechanical ventilation, and indwelling catheter in the infection group were higher than those in the non-infection group (P < 0.05). Multivariate logistic regression analysis showed that diabetes (OR =1.992), serum albumin level< 35 g/L (OR =2.782), ISS stage III (OR =2.707), mechanical ventilation (OR =3.031), and TT genotype (OR =2.401) were risk factors of infection after chemotherapy for multiple myeloma (P < 0.05). There is a correlation between STING promoter polymorphism and the susceptibility to infection after chemotherapy for multiple myeloma, and patients with TT genotype have a higher risk of infection.

Association of gene polymorphisms and the decreased expression of long non-coding RNA LOC553103 with rheumatoid arthritis.

Long non-coding RNAs (lncRNAs) are involved in many key bioprocesses, including the occurrence and development of rheumatoid arthritis (RA). We aimed to analyze the association of genetic variants of long non-coding RNA LOC553103 and its peripheral blood mononuclear cells (PBMC) expression with RA. We enrolled 457 RA patients and 551 healthy controls and conducted a case-control study to analyze the relationship between LOC553103 gene rs272879 and the susceptibility of RA by TaqMan single nucleotide polymorphism genotyping. Among them, we sampled 92 cases and 92 controls, respectively, to detect the PBMC level of LOC553103 using quantitative real-time polymerase chain reaction technology. We explored the association between LOC553103 rs272879 and its PBMC expression levels in 71 RA patients. Mann-Whitney, Chi-square, and Spearman correlation analysis were used for statistical analysis and P-value <.05 was considered statistically significant. The genotype frequency of LOC553103 rs272879 CC was increased, and CG was decreased in RA patients compared to the control group (χ2 = 6.772, P = .034). The LOC553103 expression level in PBMC of RA patients was downregulated compared to healthy control (Z = -4.497, P < .001). Moreover, negative correlations were observed between the PBMC level of LOC553103 and erythrocyte sedimentation rate (rs = -0.262, P = .018), white blood cell count (rs = -0.382, P = .004), platelet (rs = -0.293, P = .030), and disease activity score in 28 joints (rs = -0.271, P = .016) in RA patients. This study provides the first evidence supporting an association between LOC553103 gene polymorphisms and susceptibility of RA and a relationship of PBMC level of LOC553103 with clinical manifestations and laboratory indicators of RA patients.

Screening of single nucleotide polymorphism in matrix metalloproteinase-2 (MMP2) and tetraspanin CD63 genes in Chlamydia trachomatis-infected tubal ectopic pregnancy patients.

Tubal ectopic pregnancy (EP) is a leading cause of maternal morbidity and mortality. Studies have suggested that infection-induced inflammatory responses are major risk factors for EP. The aim of the present study was to find an association between MMP2 and CD63 gene variants and risk of EP during Chlamydia trachomatis infection in an Indian population. Fallopian tube samples of 120 EP and 120 tubal ligation women were collected. C. trachomatis was detected by PCR. The genotyping of MMP2 (rs17859882 G/T, rs7201A/C) and CD63(rs2231464 C/T, rs376086542 A/G) gene variants was done by qualitative real-time PCR using allelic discrimination method (VIC- and FAM-labeled). The frequency of GG or GT genotype of MMP2 G/T polymorphism (rs17859882) was 66.6% in infected EP and 36.7% in uninfected EP and 22% in tubal ligation controls (P < 0.0001), while the frequency of AC or CC genotype of MMP2 A/C polymorphism (rs7201) was 66.6% in infected EP and 20.6% in uninfected EP and 13.5% in tubal ligation controls (P < 0.0001). The frequency of CT or TT genotype of CD63 C/T polymorphism (rs2231464) was 74% in infected EP and 21.8% in uninfected EP and 11.8% tubal ligation controls (P < 0.0001), while the frequency of AG or GG genotype of CD63 A/G polymorphism (rs376086542) was 48.1% in infected EP and 41.3% in uninfected EP and 18.6% tubal ligation controls (P < 0.0001). The present study revealed a strong association between the presence of gene variants MMP2 (rs17859882 G/T, rs7201A/C) and CD63 (rs2231464 C/T, rs376086542 A/G) and risk of tubal EP during C. trachomatis infection.

The association of FSCN1 (rs852479, rs1640233) and HOTAIR (rs920778) polymorphisms with the risk of breast cancer in Egyptian women

BackgroundBreast cancer (BC) is one of the most prevalent cancers that contribute to mortality among women worldwide. Despite contradictory findings, considerable evidence suggests that single nucleotide polymorphisms (SNPs) in the FSCN1 and HOTAIR genes may have a causative impact on the development of BC. This case–control study was conducted to evaluate the association of genotype frequency in FSCN1 rs852479, rs1640233, and HOTAIR rs920778 with susceptibility and prognosis of BC, as well as the impact of clinical stages and hormonal features.Methods and resultsFSCN1 (rs852479, rs1640233) and HOTAIR (rs920778) were genotyped using TaqMan real-time PCR assay in 200 BC patients and 200 cancer-free controls, all representing Egyptian women. Genotypic analyses in association with clinicopathological factors and disease risk were assessed. As a result, a significant association with BC risk was observed for CC genotype frequency of FSCN1 rs852479 A > C (OR = 0.395, 95% CI 0.204–0.76, p-value = 0.005). However, no significant correlation was detected between the FSCN1 rs1640233 C > T and HOTAIR rs920778 C > T polymorphic variants and susceptibility to BC. Interestingly, CC genotype of FSCN1 rs1640233 was more likely to progress tumor size and lymph node invasion in BC cases (p-value = 0.04 and 0.02, respectively). Moreover, it was revealed that there was a non-significant correlation between the haplotype distributions of FSCN1 rs852479 and rs1640233 and the probability of BC.ConclusionsBased on the sample size and genetic characteristics of the subjects involved in the present study, our findings indicated that FSCN1 rs852479 may contribute to BC susceptibility in a sample of the Egyptian population.

Osteoprotegerin gene polymorphisms in postmenopausal women with knee osteoarthritis

Aim – to investigate the associations of rs3134069, rs4355801 and rs3102735 polymorphisms in the TNFRSF11B gene with knee osteoarthritis in postmenopausal women.&#x0D; Material and methods. 483 postmenopausal women were examined, including 157 patients with knee osteoarthritis. The remaining 326 women had no signs of joint disease and formed the control group. All examined women were tested using real-time polymerase chain reaction for single nucleotide polymorphisms rs3134069, rs4355801 and rs3102735 in the TNFRSF11B gene.&#x0D; Results. It was found that genotypes distribution of polymorphisms rs3134069, rs4355801 and rs3102735 in the TNFRSF11B gene in the total group of examined women (n=483) corresponded to the Hardy-Weinberg law (p0,05). Analysis of the polymorphic variants frequency in the TNFRSF11B gene revealed an increased frequency of AC or CC genotypes of rs3134069 polymorphism in patients with knee osteoarthritis (OR=1,91; 95% CI: 1,10–3,32; p=0,030). Also, among patients with osteoarthritis, the allele C registration frequency of the above polymorphism was increased (OR=1,78; 95% CI: 1,06–2,99; p=0,040). For two other studied polymorphisms in the TNFRSF11B gene (rs4355801 and rs3102735) no association with knee osteoarthritis was found (p0,05).&#x0D; Conclusion. The increased frequency of genotypes AC or CC registration, as well as allele C of rs3134069 polymorphism in the TNFRSF11B gene in postmenopausal women with knee osteoarthritis indicates the important role of TNFRSF11B gene mutations in the osteoarthritis development and progression. Further research in this direction is of great interest both for a deeper understanding of the disease pathogenesis and for the development of personalized approach criteria in the prevention and treatment of knee osteoarthritis in postmenopausal women.

No Association Between AGT Gene Polymorphisms with Hypertension in a South African Population.

Hypertension is a leading cause of cardiovascular-related morbidity and mortality worldwide, with a prevalence increasing at an alarming rate in both middle- and low-income countries. Various environmental and genetic factors have been attributed to play a significant role in the increasing prevalence of hypertension. Single nucleotide polymorphisms (SNPs) in the angiotensinogen (AGT) gene are reported to have a significant association with hypertension; however, there are limited studies done on South African populations. Therefore, this case-control study aimed to investigate the association between AGT SNPs (rs2004776, rs3789678, rs5051 and rs7079) with hypertension in a study population of isiXhosa-speaking participants from the Eastern Cape Province in South Africa. The SNPs were genotyped in 250 hypertensive cases and 237 normotensive controls, using TaqMan genotyping assays. For the SNP rs2004776, the frequency of CC genotype (18.4%) and C allele (44%) in hypertensive cases showed no significant differences (p = 0.52, χ2 = 1.32), when compared to the normotensive control group (CC: 19.8% and C allele: 43%). Similar results were obtained for the genotypic and allelic frequencies between hypertensive cases and normotensive controls for rs3789678 (p = 0.88, χ2=0.26) and rs5051 (p = 0.57, χ2=1.12), and rs7079 (p = 0.33, χ2=2.23). These findings demonstrate that there were no significant associations between the SNPs rs2004776, rs3789678, rs7079, rs5051 with hypertension in our study population. These findings suggest that AGT gene polymorphisms are not associated with the development of hypertension in the studied population. The present study represents the first genetic report to investigate the AGT gene polymorphisms with hypertension in an isiXhosa-speaking South African population.

Study the Association between TP53 (rs12602273C&gt;G) Gene Polymorphism with Susceptibility to the Breast Cancer in North West of Iran

Introduction: The TP53 gene on the short arm of chromosome 17p, which is known as a tumor suppressor gene, encodes the transcription factor p53, and this factor controls cell cycle progression. This study was done to assess the association of TP53 (rs12602273C&gt;G) gene polymorphism with the risk and prognosis of breast cancer in women of northwest of Iran.&#x0D; Methods: In this case-control study, the association of TP53 (rs12602273C&gt;G) gene polymorphism with breast cancer risk was studied in a population, including 100 patients and 100 healthy individuals was investigated by Tetra ARMS-PCR technique. The analysis of the resulting data was done using SPSS version 16 software and JavaStat online statistics package.&#x0D; Results: In the case group, the frequency of CC, CG, and GG genotypes were 81.52, 16.3, 2.17 percent, respectively and they were 79.34, 17.39, and 3.26 percent for the control group. Similarly, C and G allele frequency in case group was 89.67 and 10.32 percent and those in the control group was 88.04 and 11.95 percent, respectively. Statistical analyzes showed no association between genotypic (P&gt;0.05) and allelic (P&gt;0.05) polymorphism (rs12602273C&gt;G) of TP53 gene with breast cancer. Also, the results showed that the studied polymorphism was not associated with the clinical characteristics of breast cancer patients in the Northwest of Iran (P&gt;0.05).&#x0D; Conclusion: These research findings suggest that TP53 polymorphism of rs12602273C&gt;G is not related to the risk of breast cancer. The association of the genotypic distribution of this SNP with the clinical characteristics of the patients was insignificant.

Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population

In the hypothalamic-pituitary-gonadotrophin axis, estrogen plays a key role in the regulation of bone maturation and growth plate closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 (ESR1) gene with idiopathic short stature (ISS) susceptibility in a North Indian population. Four SNPs of ESR1 (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in ISS patients and controls. Linkage disequilibrium (LD) and haplotyping were done by SNPStat and SHEsisPlus software. The extent of LD was determined by calculating D’ and R2 values in SNP paired combinations. Fifty-two ISS patients were compared with 68 controls. A significant positive association was found between rs6557177 and rs543650 genotype and ISS susceptibility. The frequencies of the rs6557177 CC genotype [p=0.030; odds ratio (OR)=0.13; 95% confidence interval (CI): 0.01-1.10] and rs543650 genotype TT (p=0.043; OR=0.29; 95% CI: 0.09-0.92) were increased in the ISS group compared with controls. However, no significant correlation was observed between clinical parameters of patients and these SNPs. rs543650 showed strong LD with rs2234693 and rs9340799, similarly rs2234693 and rs9340799. Our study showed that the CC genotype at rs6557177 and TT genotype at rs543650 of ESR1 constituted a risk factor for developing ISS in North Indian children. These findings may lead to a better understanding of the SNPs associated with ISS susceptibility.

The prevalence of ADSL (rs3788579) and CYP1A2 (rs17861162) polymorphisms in female breast cancer patients in North-West Iran

IntroductionBreast cancer is a prevalent and significant contributor to cancer-related mortality among women worldwide. Its increasing incidence, especially in regions like North-West Iran, necessitates a deeper understanding of genetic factors contributing to its development. Genetic alterations, particularly single nucleotide polymorphisms (SNPs), are implicated in breast cancer susceptibility, making investigation in this context crucial. This study explores the role of CYP1A2-rs17861162 and ADSL-rs3788579 SNPs in breast cancer risk among Iranian women.MethodsThis study involved 200 female breast cancer patients and 200 healthy controls in North-West Iran. DNA was extracted from blood samples, and PCR–RFLP was used for genotyping the CYP1A2 and ADSL genes.ResultsThe CYP1A2-rs17861162 SNP exhibited a shift from the C allele to the G allele in breast cancer patients, resulting in a 21.7% decrease in CC genotype frequency and a 21.6% and 77.8% increase in CG and GG genotypes, respectively, compared to controls. In ADSL-rs3788579 SNP, breast cancer patients had a significantly higher prevalence of the T allele, with a 28.5% increase compared to controls. In healthy participants, CC was most common, while in the breast cancer group, TT was most common.ConclusionThis study highlights significant genetic alterations in CYP1A2-rs17861162 and ADSL-rs3788579 SNPs among breast cancer patients in North-West Iran, suggesting their potential as diagnostic and prognostic biomarkers. Further research is warranted to elucidate the precise mechanisms underlying their contributions to breast cancer susceptibility in this population.

Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma.

Polymorphism of genes of transforming growth factor TGFB and its receptors (TGFBRI, TGFBRII, and TGFBRIIII) in patients with primary open-angle glaucoma was analyzed. The frequency of the TGFBRII CC genotype in patients is increased relative to the control group (OR=6.10, p=0.0028). Heterozygosity in this polymorphic position is reduced (OR=0.18, p=0.0052). As the effects of TGF-β is mediated through its receptors, we analyzed complex of polymorphic variants of the studied loci in the genome of patients. Two protective complexes consisting only of receptor genes were identified: TGFBRI TT:TGFBRII CG (OR=0.10, p=0.02) and TGFBRII CG:TGFBRIII CG (OR=0.09, p=0.01). The study showed an association of TGFBRII polymorphism with primary open-angle glaucoma and the need to study functionally related genes in the development of the disease, which should contribute to its early diagnosis and prevention.

Association of Methylenetetrahydrofolate Reductase rs1801133 Gene Polymorphism with Cancer Risk and Septin 9 Methylation in Patients with Colorectal Cancer

PurposeColorectal cancer (CRC) is one of the most common malignancies, with a high incidence and mortality worldwide. Methylated Septin 9 (mSEPT9) has been used clinically as an auxiliary tool for CRC screening. The aim of the present study was to investigate the association of the methylenetetrahydrofolate reductase (MTHFR) rs1801133 polymorphism with the risk of CRC and the methylation status of Septin 9 in CRC.MethodsInformation of 540 patients with a confirmed diagnosis of CRC and with a physical examination were utilized to assess the association of the MTHFR rs1801133 polymorphism with CRC and the methylation of SEPT9. MTHFR rs1801133 polymorphism was genotyped using polymerase chain reaction (PCR). The commercial Septin 9 Gene Methylation(mSEPT9) Detection Kit was used for plasma SEPT9 methylation analysis.ResultsAmong 540 patients, 61.48% were men and the median age was 54.47 ± 13.14. 65.37% of all colorectal tumors developed in the rectum. 195 patients had negative mSEPT9 methylation, while 345 had positive results. 87 individuals with stage I, 90 with stage II, 287 with stage III, and 76 with stage IV colorectal cancer were included in the sample. The results demonstrated that the positivity rate and degree of methylation of mSEPT9 were remarkably higher in patients with more advanced TNM stages than in those with less advanced stages. The frequencies of the MTHFR rs1801133 CC genotype and allele C carriers in patients with CRC were significantly higher than those in healthy individuals (P = 0.006 and P = 0.001, respectively). The positivity rate of the mSEPT9 assay was significantly higher among the MTHFR rs1801133 TT genotype and allele T carriers than among the CC and allele C carriers respectively. The MTHFR rs1801133 TT genotype and allele T carriers were positively associated with the methylation of SEPT9 (OR = 3.320, 95% CI 1.485–7.424, P = 0.003 and OR = 1.783, 95% CI 1.056–3.010, P = 0.030, respectively).ConclusionIn conclusion, individuals harboring the MTHFR rs1801133 CC genotype had a higher risk of CRC and the MTHFR rs1801133 TT carriers were more susceptible to Septin 9 gene methylation.

Investigation of Genetic Polymorphisms of CSN1S1 and BLG Genes in Norduz sheep by PCR-RFLP method

This study was undertaken to examine genetic polymorphisms of Alpha-S1 casein (CSN1S1) and β-Lactoglobulin (BLG) genes in Norduz sheep by PCR-RFLP method. In the study, 10 ml blood samples were taken from 102 heads of Norduz sheep into tubes with EDTA. DNA isolation from blood samples was done with ready-made commercial kits. The target DNA region of alpha-s1 casein and beta-lactoglobulin genes was amplified by PCR technique. The obtained PCR patterns were digested with MboII and RsaI restriction enzymes to determine the genotypes of Alpha-S1 casein and β-lactoglobulin genes, respectively. The cut fragments were run on 2% agarose gel electrophoresis and genotypes were determined under UV light. Statistical analysis, after calculating allele and genotype frequencies by direct gene counting method, the distribution of observed and expected genotypic frequencies was determined according to the Hardy-Weinberg Equilibrium, and whether it was compatible with the χ2 test. β-Lactoglobulin AA, AB and BB genotype frequencies were found to be 17.6%, 69.6 and 12.7%, respectively. It was determined that the β-Lactoglobulin gene was not in Hardy-Weinberg Equilibrium. AlphaS1-Casein AA, AC and CC genotype frequencies were determined as 0.0, 2.9 and 97.1%, respectively. The Alpha-S1 casein gene was determined to be in Hardy-Weinberg equilibrium. It was determined that Norduz sheep showed polymorphism in terms of Alpha-S1 Casein and β-Lactoglobulin genes. In conclusion, it was determined that the A allele of the β-Lactoglobulin gene and the AB genotype were more common, the C allele and the CC genotype of the Alpha-S1 casein gene were more common, and the AA genotype was absent in Norduz sheep. It was concluded that it would be useful to investigate the economic effects of genetic polymorphisms of Alpha-S1 casein and β-Lactoglobulin genes on various yield traits in larger Norduz sheep populations.