Role of rs2366152 single-nucleotide variant located in the long noncoding RNA HOTAIR gene in the cervical cancer susceptibility in a Polish population.

Previous studies have demonstrated an association of the NC_000012.12:g.53962605A > G, (rs2366152) single-nucleotide variant (SNV) situated in the long noncoding homeobox transcript antisense intergenic RNA (HOTAIR) gene with HPV16-related cervical cancer pathogenesis.

Genetic Variants and Oxidative Stress in Alzheimer's Disease.

In an aging society, the number of people suffering from Alzheimer's Disease (AD) is still growing. Currently, intensive research is being carried out on the pathogenesis of AD. The results of these studies indicated that oxidative stress plays an important role in the onset and development of this disease.

Polymorphisms of COMT (c.649G>A), MAO-A (c.1460C>T), NET (c.1287G>A) Genes and the Level of Catecholamines, Serotonin in Patients with Parkinson's Disease.

The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.

Analysis of rs8067378 Polymorphism in the Risk of Uterine Cervical Cancer from a Polish Population and its Impact on Gasdermin B Expression.

Objective: We studied the role of the NC_000017.10:g.38051348A>G (rs8067378) single nucleotide polymorphism (SNP) located 9.

The role and impact of estrogens and xenoestrogen on the development of cervical cancer.

Throughout an individual's lifetime, the human body is exposed to many different chemical compounds, including xenoestrogens (XEs) that can be found in the environment, food, air, cosmetics and other substances, which have a positive or negative impact on their health and lifestyle. Whereas high-risk human papillomavirus (HR-HPV) is necessary but not sufficient for full malignant cervical cell transformation, other compounds such as estrogens and XEs may be risk factors for cervical cancer (CC) development. The causes and effects of some diseases such as cancer, cardiovascular, metabolic or immune system disorders are partly due to signaling pathways in response to estrogens.

Involvement of myeloperoxidase gene polymorphism 463G>A in development of cervical squamous cell carcinoma.

Background: The myeloperoxidase (MPO) -463G>A (rs2333227) polymorphism has been linked with increased susceptibility to the development of various malignancies. However, the data on the association of the MPO -463G>A transition with cervical cancer remain inconsistent.

Methods: Using high resolution melting analysis we genotyped this polymorphism in women with cervical squamous cell carcinoma (SCC) (n = 476) and controls (n = 493) from a Polish Caucasian population.

Exploring estrogenic activity in lung cancer.

It is well known that a connection between xenobiotics inhalation, especially tobacco combustion and Lung Cancer development is strongly significant and indisputable. However, recent studies provide evidence indicating that another factors such as, estrogens are also involved in lung carcinoma biology and metabolism. Although the status of estrogen receptors (ER), in both cancerous and healthy lung tissue has been well documented, there is still inconclusive data with respect of which isoform of the receptor is present in the lungs.

Molecular factors in migraine.

Migraine is a common neurological disorder that affects 11% of adults worldwide. This disease most likely has a neurovascular origin. Migraine with aura (MA) and more common form - migraine without aura (MO) - are the two main clinical subtypes of disease.

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

The etiology of Parkinson's disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features.

Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of mutations.

Previous studies have produced inconsistent results regarding the contribution of single-nucleotide polymorphisms (SNPs) in the vitamin D receptor () gene to ovarian cancer (OC) in various ethnicities. Additionally, little has been established with regard to the role of SNPs located in the retinoid X receptor α (), vitamin D-binding protein [also know as group-specific component ()] and genes in non-carriers of the breast cancer 1/2 early onset () gene mutations. All participating individuals in the present study were evaluated for mutations (5382incC, C61G and 4153delA) with HybProbe assays, and for mutation (5946delT) using high-resolution melting (HRM) analysis.

The MAOA, COMT, MTHFR and ESR1 gene polymorphisms are associated with the risk of depression in menopausal women.

Objective: The aim of the study was assessment of a possible relationship between the polymorphisms of the candidate genes participating in the etiology of some neurological and psychiatric disorders and the risk of depression in perimenopausal and postmenopausal women.

Methods: A total of 167 (54 perimenopausal and 113 postmenopausal) Caucasian women from western Poland, aged 42-67, were recruited as the patient group in the study because of depressive symptoms, and another 321 healthy women (102 perimenopausal and 219 postmenopausal) served as the controls. All study participants were evaluated for climacteric and depressive disorders according to the Kupperman index and Hamilton rating scale for depression (HRSD), respectively.

Replication study for the association of seven genome- GWAS-identified Loci with susceptibility to ovarian cancer in the Polish population.

We investigated the previously-demonstrated association of seven genome-wide association studies (GWAS) single nucleotide polymorphisms (SNPs), including rs2072590 (HOXD-AS1), rs2665390 (TIPARP), rs10088218 and rs10098821 (8q24), rs3814113 (9p22), rs9303542 (SKAP1) and rs2363956 (ANKLE1), as risk factors of epithelial ovarian tumors (EOTs). These SNPs were genotyped in two hundred seventy three patients with EOTs and four hundred sixty four unrelated healthy females from the Polish population. We observed the lowest p values of the trend test for the 9p22 rs3814113 and 8q24 rs10098821 SNPs in patients with all subtypes of ovarian cancer (p(trend) = 0.

Mutations in the exon 7 of Trp53 gene and the level of p53 protein in double transgenic mouse model of Alzheimer's disease.

Alzheimer's disease (AD) leads to generation of β-amyloid (Aβ) in the brain. Alzheimer's disease model PS/APP mice show a markedly accelerated accumulation of Aβ, which may lead to apoptosis induction e.g.

Genetic variants in diseases of the extrapyramidal system.

Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular genetic studies, leading to the detection of genetic mutations and loci, has contributed to the understanding of mechanisms of neurodegeneration and has helped clarify the pathogenesis of some neurodegenerative diseases.

Molecular Effects of L-dopa Therapy in Parkinson's Disease.

Parkinson's disease (PD) is one of the most common neurological diseases in elderly people. The mean age of onset is 55 years of age, and the risk for developing PD increases 5-fold by the age of 70. In PD, there is impairment in both motor and nonmotor (NMS) functions.

CYP1A1 Ile462Val polymorphism as a risk factor in cervical cancer development in the Polish population.

Background And Objective: There are inconsistent data of the cytochrome P450 1A1 (CYP1A1) Ile462Val (rs1048943) single nuclear polymorphism (SNP) as a genetic susceptibility factor for cervical cancer in various populations. Moreover, little is known about the interaction of this SNP with other risk factors, including contraceptive use, postmenopausal status, parity, and tobacco smoking.

Methods: Polymerase chain reaction-restriction fragment length polymorphism was used to study the prevalence of the CYP1A1 Ile462Val SNP in women with cervical cancer (n = 456) and controls (n = 495).

The FCRL3 -169T>C polymorphism might be associated with some autoantibody presence in patients with SLE in a Polish population.

Objectives: The Fcrl3 -169T>C (rs7528684) polymorphism has been shown to be a risk factor of various autoimmune diseases, including systemic lupus erythematosus (SLE); however, these results are inconsistent between distinct ethnicities.

Methods: Using PCR-RFLP we studied the distribution of the FCRL3 -169T>C polymorphism in SLE patients (n = 263) and controls (n = 528) in a sample from the Polish population.

Results: We found no significant differences of FCRL3 -169T>C genotypes and alleles between patients with SLE and healthy individuals.

Homocysteine Level and Mechanisms of Injury in Parkinson's Disease as Related to MTHFR, MTR, and MTHFD1 Genes Polymorphisms and L-Dopa Treatment.

An elevated concentration of total homocysteine (tHcy) in plasma and cerebrospinal fluid is considered to be a risk factor for Alzheimer's disease (AD) and Parkinson's disease (PD). Homocysteine (Hcy) levels are influenced by folate concentrations and numerous genetic factors through the folate cycle, however, their role in the pathogenesis of PD remains controversial. Hcy exerts a neurotoxic action and may participate in the mechanisms of neurodegeneration, such as excitotoxicity, oxidative stress, calcium accumulation, and apoptosis.

Polymorphism of the COMT, MAO, DAT, NET and 5-HTT Genes, and Biogenic Amines in Parkinson's Disease.

Epinephrine (E) and sympathetic nerve stimulation were described by Thomas Renton Elliott in 1905 for the first time. Dopamine (DA), norepinephrine (NE), E, and serotonin (5-HT) belong to the classic biogenic amines (or monoamines). Parkinson's disease (PD) is among the diseases in which it has been established that catecholamines may account for the neurodegeneration of central and peripheral catecholamine neural systems.

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Although Parkinson's disease (PD) was first described almost 200 years ago, it remains an incurable disease with a cause that is not fully understood. Nowadays it is known that disturbances in the structure of pathological proteins in PD can be caused by more than environmental and genetic factors. Despite numerous debates and controversies in the literature about the role of mutations in the SNCA and PRKN genes in the pathogenesis of PD, it is evident that these genes play a key role in maintaining dopamine (DA) neuronal homeostasis and that the dysfunction of this homeostasis is relevant to both familial (FPD) and sporadic (SPD) PD with different onset.

An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population.

Background And Objective: The Wnt/β-catenin signaling pathway has been considered to be a factor in the development and progression of ovarian cancer.

Methods: All patients with ovarian cancer and controls were tested for BRCA1 mutations (5382incC, C61G, 4153delA) with HybProbe assays and for BRCA2 mutation (5946delT) using high-resolution melting curve analysis (HRM). Mutation carriers were excluded from the association analysis.

Novel PAX9 mutation associated with syndromic tooth agenesis.

Tooth agenesis is the most common anomaly of dental development. The purpose of the present study was to identify the causative mutation(s) in a family with a syndromic form of hypodontia. The male proband lacked 19 permanent teeth and showed defects of hair, but lacked ectodermal symptoms of skin and nails.

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

There is evidence of linkage between the 15q13-q14 locus, containing the gene encoding the α7 subunit (CHRNA7) of the neuronal nicotinic acetylcholine receptor (nAChR) and its partially duplicated isoform (CHRFAM7A), and epilepsy. Additionally, a 2-bp deletion polymorphism (c.497-498delTG; rs67158670) in CHRFAM7A, resulting in a frame shift and truncation of the protein product, is associated with some neurological diseases.

Reduced expression of steroid sulfatase in primary colorectal cancer.

Colorectal cancer (CRC) is considered an estrogen-dependent malignancy, and intratissue estrogen concentration can be controlled by steroid sulfatase (STS). Little is known about changes in the expression of STS during the development of CRC. Therefore, we analysed the STS mRNA levels in primary colonic adenocarcinoma tissues and adjacent histopathologically unchanged colonic mucosa from patients who underwent radical colon resection (n=90).