Multi-locus high-risk alleles association from interleukin's genes with female infertility and certain comorbidities.

Objective There is evidence that cytokine genes' single nucleotide polymorphisms could be the reasons behind female infertility. This study aimed to identify the role for Interleukin33 rs1048274 (G > A) and rs16924243 (T > C), Interleukin22 rs1397852121 (C > T), rs1295978671 (C > T) and rs2227483 (A > T), Interleukin17A rs2275913 (G > A,C) and Interleukin17F rs763780 (T > C), Interleukin13 1512 (A > C) and IL13 2044 (G > A), and Interleukin4 rs2243250 (C > T) and rs2070874 (C > T) gene polymorphisms in female infertility to gain a richly more detailed understanding of its genetic predisposition. Five distinct groups, each comprising 200 infertile women and 200 age-matched fertile controls, were recruited to each Interleukins (33, 22, 17, 13 and 4) in this case-control study and were genotyped by using an amplification refractory mutation system.

Overcoming Breast Cancer Drug Resistance: A Novel Approach Using siRNA-Mediated P-glycoprotein Downregulation to Enhance Vinorelbine Efficacy.

Purpose: Cancer, the second leading cause of mortality worldwide, represents a global health challenge, primarily due to drug resistance. Vinorelbine is a chemotherapeutic agent that disrupts cancer cell growth by targeting microtubules and inducing apoptosis. However, drug resistance remains a formidable obstacle.

Bicalutamide reveals immunomodulatory effects in prostate cancer by regulating immunogenic dendritic cell maturation.

Prostate cancer poses a significant global health challenge, ranking as the second most prevalent and fifth most lethal malignancy among males. The intricate interplay between androgen signaling and the immune microenvironment underscores the complexity of prostate cancer progression. Notably, androgen receptor (AR) signaling has been shown to affect immune response mediated by tumor antigen-presenting dendritic cells (DCs).

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

Background: The apparent lack of additional missense mutations data on mixed-phenotype leukemia is noteworthy. Single amino acid substitution by these non-synonymous single nucleotide variations can be related to many pathological conditions and may influence susceptibility to disease. This case-control study aimed to unravel whether the ZAP70 missense variant (rs104893674 (C > A)) underpinning mixed-phenotype leukemia.

Association of deletion polymorphism rs10573247 in the HMGA2 gene with the risk of breast cancer: bioinformatic and experimental analyses.

Background: The high mobility group A2 (HMGA2) gene is expressed extensively during early embryonic development but is inactivated in adulthood, and it is also reactivated in various benign and malignant tumors, including breast cancer. We first assessed the potential functional significance of the unstudied deletion polymorphism rs10573247 at the 3'UTR of HMGA2 on miRNA binding using bioinformatic tools, and subsequently, the association between this polymorphism and breast cancer susceptibility was investigated.

Materials And Methods: We applied the RNAhybrid tool to predict the functional effects of polymorphism rs10573247 located within the 3' UTR of the HMGA2 gene on miRNA binding.

Implications of ZNF334 gene in lymph node metastasis of lung SCC: potential bypassing of cellular senescence.

Background: The primary goal of this work is to identify biomarkers associated with lung squamous cell carcinoma and assess their potential for early detection of lymph node metastasis.

Methods: This study investigated gene expression in lymph node metastasis of lung squamous cell carcinoma using data from the Cancer Genome Atlas and R software. Protein-protein interaction networks, hub genes, and enriched pathways were analyzed.

SiRNA-Mediated Knockdown of ABCB1 Enhances the Efficacy of Doxorubicin and Vinorelbine in Breast Cancer Cells.

Background: Breast cancer remains a leading cause of cancer-related deaths among women, primarily attributed to the formidable challenge of multidrug resistance, often driven by the overexpression of the ABCB1 gene.

Objective: This study aimed to assess the synergistic effects of siRNA, doxorubicin, and vinorelbine on ABCB1 gene expression and cell viability in doxorubicin-resistant MCF-7/ADR breast cancer cells, with siRNA targeting ABCB1 to reduce its expression and doxorubicin/ vinorelbine to eradicate cancer cells.

Methods: Our methodology involved culturing MCF-7 and MCF-7/ADR cells in standard cell culture conditions.

Integrative bioinformatics analysis reveals ECM and nicotine-related genes in both LUAD and LUSC, but different lung fibrosis-related genes are involved in LUAD and LUSC.

There are several bioinformatics studies related to lung cancer, but most of them have mainly focused on either microarray data or RNA-Seq data alone. In this study, we have combined both types of data to identify differentially expressed genes (DEGs) specific to lung cancer subtypes. We obtained six microarray datasets from the GEO and also the expression matrix of LUSC and LUAD from TCGA, which were analyzed by GEO2R tool and GEPIA2, respectively.

Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism.

Objective: Association between a genetic polymorphism and disease, either positively or negatively, within a population may not necessarily predict association in other race-ethnic populations. The aim of this study was to genotype well recognized thrombophilia associated polymorphisms as common risk factors for miscarriage and investigate their benefit to use as risk factors in southwest region of Iran females (Khuzestan) in the Arabs ethnic minority group with spontaneous miscarriage. We developed a Reverse Dot Blot Assay for the genotyping of four polymorphisms.

Highlighting allelic variations at the interleukin-19 locus in term of preeclampsia predisposing factors and access to an accurate diagnostic/screening option.

Background: Preeclampsia is the main cause of preterm parturition and maternal-fetal complications. T helper 1 and T helper 2 cytokines balance is a requirement in normal pregnancy and aberrant in this immunologic balance, play an important role in the pathology of preeclampsia. In previous studies single nucleotide polymorphisms have been associated with the alteration of serum cytokine levels.

Crucial Role of Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches.

The impaired suppressive function of regulatory T cells is well-understood in systemic lupus erythematosus. This is likely due to changes in expression that are crucial for regulatory T-cell stability and function. There are a few reports on the correlation between the altered expression level and single-nucleotide polymorphisms within the locus.

Preeclampsia Susceptibility Assessment Based on Deep Learning Modeling and Single Nucleotide Polymorphism Analysis.

The early diagnosis of preeclampsia, a key outlook in improving pregnancy outcomes, still remains elusive. The present study aimed to examine the interleukin-13 and interleukin-4 pathway potential in the early detection of preeclampsia as well as the relationship between interleukin-13 rs2069740(T/A) and rs34255686(C/A) polymorphisms and preeclampsia risk to present a combined model. This study utilized raw data from the GSE149440 microarray dataset, and an expression matrix was constructed using the RMA method and affy package.

Genes whose expressions in the primary lung squamous cell carcinoma are able to accurately predict the progression of metastasis through lymphatic system, inferred from a bioinformatics analyses.

Lymph node metastasis is the most important prognostic factor in patients with lung squamous cell carcinoma. The current findings show that lymph node metastatic tumor cells can arise by programming metastasis in primary tumor cells. Thereby, the genetic alterations responsible for the metastasis could be detected in the primary tumors.

Predisposition to Myocardial Infarction Influenced by Interleukin 13 Gene Polymorphisms: A Case-Control Study.

Background: Additional inflammatory responses and subsequent damage-arising from enhance transcriptional activity or forming the more active protein due to existence of polymorphic sites in the pro-inflammatory cytokines gene loci-give rise to myocardial infarction susceptibility.

Objectives: The aim of our study was to explore whether two gene polymorphisms (-1512A/C and +2044G/A) could serve as underpins genetic susceptibility of myocardial infarction.

Methods: The Iranian population that belong to the Parsis ethnic group was involved in the present study.

Two Novel Mutations in Gene in Iranian Families Affected by Junctional Epidermolysis Bullosa.

Background: Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin disorder with defective adhesion of dermal- epidermal within the lamina lucida region of the basement membrane zone. The main characterization of JEB is blistering and fragile skin and mucous membrane. Laminins are noncollagenous part of basement membrane and classified as a family of extracellular matrix glycoprotein.

Atomic insight into prion disorder: An intricate detail gained by 0.5 μs molecular dynamics simulation of preventive G127V and deleterious D178V mutation in prion protein.

In this study we are looking into two contradicting mutations found in prion protein (PrP) viz G127V and D178V, that are reportedly protective and pathogenic, respectively. Despite significant advances in comprehension of the role of pathogenic mutations, the role of protective mutation in amyloid fold inhibition still lacks a substantial basis. To understand the structural basis of protective mutation, molecular dynamics simulation coupled with protein-protein docking and molecular mechanics/Poisson-Boltzmann surface area analysis was used to understand the instant structural variability brought about by these mutations alone and in combination on PrP and prion-prion complex.

Genetic association study of promoter variation rs3761549 in the FOXP3 gene of Iranian patients diagnosed with brain tumour.

Forkhead box P3 (FOXP3) gene (Gene ID: 50943, Xp11.23) is an X-linked gene that encodes FOXP3 protein, an essential transcription factor in CD4+ CD25+ FOXP3 regulatory T (Treg) cells. FOXP3 mutation has been linked with the pathogenesis of several tumours; however, little is known about the role of single-nucleotide polymorphism (SNP) in its promoter region and its correlation with brain tumour.

CCL22 and CCR4 Gene Polymorphisms in Myocardial Infarction: Risk Assessment of rs4359426 and rs2228428 in Iranian Population.

Background: Myocardial infarction (MI) is an irreversible damage of myocardial tissue caused by prolonged ischemia and hypoxia. A local hypoxia-induced inflammation causes recruitment of leukocytes to the inflammatory site to aid cardiac remodeling and tissue healing. Among various chemokines involved in the process, CCL22 plays an essential role in cardiac cell migrations.

Program death 1 (PD1) haplotyping in patients with breast carcinoma.

Located on chromosome 2q37.3, the programmed death 1 (PD1) gene encodes for PD-1 (also known as CD279), a negative co-stimulator in the immune system. PD-1 renders potent inhibitory effects on T and B lymphocytes as well as monocyte responses.

Genetic variation in TGF-beta 1 gene promoter and risk of gestational trophoblastic disease.

Objective: To examine the relationship of transforming growth factor beta 1 (TGF-beta 1) gene polymorphisms at promoter positions -509 (C/T) and -800 (G/A) with the risk of gestational trophoblastic disease (GTD) as compared to normal controls

Study Design: Polymerase chain reaction-restriction fragment length polymorphism was performed on peripheral blood of 102 patients with GTD and 124 normal, healthy, pregnant women as the control group.

Results: In this study, TGF-beta 1 gene polymorphisms at positions -509 (C/T) and -800 (G/A) failed to correlate with GTD.

Conclusion: Our findings suggest that promoter gene polymorphisms of TGF-beta 1 do not play major roles in GTD and may not be risk factors for this disease.

Interleukin-18 gene promoter and serum level in women with ovarian cancer.

IL-18, initially defined as a potent inducer of IFN- gamma production, is a systemic, multifunctional cytokine with both pro-cancerous and anti-cancer activities. The contribution of the IL-18 promoter polymorphisms at positions -607 (C/A) and -137 (G/C) to cancer development has been reported. We sought to examine IL-18 serum level and its polymorphisms in Iranian women with ovarian cancer.

Interleukin-18 gene promoter polymorphisms in women with gestational trophoblastic diseases.

Objective: Gestational trophoblastic diseases (GTDs) consist of a spectrum of disorders characterized by an abnormal proliferation of trophoblastic tissue. IL-18 is a pleiotropic cytokine with a capacity for both ThI and Th2 polarization. Considering the association of IL-18 promoter polymorphisms at positions -607 (A/C) and -137 (C/G) with pregnancy events and some cancers, we sought to examine these polymorphisms in Iranian patients with GTD, their association with disease subtypes, and IL-18 serum level.

Interleukin-18 gene promoter polymorphisms and recurrent spontaneous abortion.

Background: IL-18 is a multifunctional cytokine capable of inducing either Th1 or Th2 polarization depending on the immunologic milieu. IL-18 is detected at the materno-fetal interface very soon in early pregnancy. Two polymorphisms in the promoter region of the IL-18 gene at positions of -607 and -137 appear to have functional impacts.