The goal of the study was to investigate the possibility of an association between polymorphisms and single alleles of BsmI, ApaI, TaqI of the vitamin D receptor (VDR) gene with bone mineral density (BMD) and prevalence of vertebral/non-vertebral fractures in a group of postmenopausal Polish women with osteoporosis. The study group comprised of 501 postmenopausal females with osteoporosis (mean age 66.4 ± 8.9), who were diagnosed on the basis of either the WHO criteria or self-reported history of low-energy fractures. The three polymorphisms were determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). BMD at the lumbar spine and femoral neck was assessed by dual energy X-ray absorptiometry (DXA). 285 fractures were reported in the whole group (168 vertebral and 117 non-vertebral). Incidence of non-vertebral fractures was significantly higher in the carriers of single alleles a of ApaI, b of BsmI and T of TaqI VDR gene polymorphisms (p = 0.021, 0.032, 0.020, respectively). No significant associations between allelic variants of the studied polymorphisms and BMD or fracture incidence were found. (1).The presence of single alleles a,b and T of ApaI, BsmI, TaqI VDR gene polymorphisms respectively, might serve as an indicator of non-vertebral fractures. (2). Lack of association between the VDR gene polymorphisms and BMD suggests that VDR contributes to low-energy fractures also through other ways.

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Over 3% of the entire Polish population migrate for a job within the European Union, most are aged 18-44 years. The main destinations are Germany, the United Kingdom and Ireland. Immigration is connected with the use of many public services, including healthcare services. Assuming Polish immigrants require medical consultations in the countries they reside in, the authors have analysed the reasons for patients' visits to general practitioners (GPs) in Poland in order to predict possible reasons why Polish patients living abroad may make appointments with GPs in other countries. Data from 22,769 visits to GP practices between June 2005 and May 2006 by Polish patients aged 18-44 years were collected electronically. Age was categorised into three groups (18-24, 25-4 and 35-44 years) and the reason for the visit was categorised according to the ICD 10 coding system. Among the 12,535 patients registered with GPs, 73.1% of women and 68.6% of men required consultations during the year the study was conducted. The highest percentage of visits was recorded for women aged 35-44 years, while men of the same age were the least likely to visit a GP. The mean number of visits per patient ranged from 1.89 for men aged 25-34 years to 3.11 for women aged 35-44 years. The means were similar for 18- to 24-year-old men and women. Women aged 35-44 years had a higher mean number of visits compared with women aged 18-4 years, whereas the opposite was true for men. The analysis of reasons for visits within the age groups indicated that the percentage of appointments for respiratory problems and general and unspecified problems dropped by more than half from the 18-24-year-olds to the 35-44-years-olds, while visits for musculosceletal, cardiovascular, and mental and behavioural problems increased by a factor of four. The presented results intend to enable healthcare services meet Polish immigrants' healthcare needs.

Associations of the FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor (VDR) gene with the bone mineral density (BMD) of the lumbar part of the spinal column (BMD LS) and the neck of the femur (BMD FN), and with the occurrence of fractures, were studied using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis on DNA isolated from peripheral blood of 239 women and 40 men from the region of western Poland. Three polymorphisms of the 3' end of the VDR gene (BsmI, ApaI, TaqI) indicated a strong linkage disequilibrium. Association analysis of the VDR gene FokI polymorphism with BMD LS showed a dose effect of allele f. The association of the bAT haplotype of the BsmI, ApaI, and TaqI polymorphisms of the VDR gene with BMD FN was statistically significant. The association of the ApaI polymorphism with the occurrence of fractures was observed. Associations were also observed between the occurrence of fractures and the baT haplotypes of the VDR gene.

Abstract. The TP53 polymorphism occurs at codon 72 of exon 4 with two alleles encoding either arginine or proline. The association between this common polymorphism and risk of different cancers has been extensive studied, however various reports are controversial. We have analyzed the 72Pro polymorphic variant in patients with adrenocortical tumors to evaluate whether 72G➝C substitution at codon 72 of TP53 gene may be associated with increased risk for malignancy in adrenal cortex in comparison to the control group. DNA extracted from peripheral leucocytes of 46 Polish patients with adrenocortical tumors (17 malignant and 29 benign) and 50 controls was examined by PCR-HD method followed by direct sequencing. TP53 polymorphism in codon 72 was found in 47% of ACC cases, in 28% of patients with adenomas and in 24% of controls. The genotype Arg/Arg, Arg/Pro and Pro/Pro distribution was respectively 53%/ 35%/12% for cancers, 72%/28%/0% for benign tumors and 76%/24%/0% for controls. High frequency of 72Pro allele in patients with carcinoma (29%) in comparison to the benign tumors (14%) and controls (12%) was statistically analyzed. We found that 72Pro variant of TP53 gene was associated with a significantly increased risk of ACC (OR = 3.05; 95% CI = 1.17-7.91, p=0.03). Our results suggest that the TP53 codon 72 polymorphism could be associated with susceptibility for adrenocortical cancer in the examined Polish patients. IntroductionThe TP53 tumor suppressor gene, located on chromosome 17p13, is one of the most important protectors of genomic integrity. It controls cell growth and division, detects DNA damage and is involved in the process of transcription of genes that are responsible for DNA repair and apoptosis (1,2). The alterations in TP53 sequence which are associated with p53 protein inactivation are considered to play an important role in the process of carcinogenesis. Somatic mutations in TP53 gene are frequent genetic events observed in various human neoplasms with the frequencies varying from 10% to 60% (3,4). Germ-line mutations in TP53 are found in 70% families affected by Li-Fraumeni syndrome (LFS) and some of them are associated with familial predisposition to early onset cancers development in mutation carriers (5-7).The polymorphisms in TP53 gene, defined as DNA sequence variations, are localized mainly in introns. The functional consequence of intronic variations are speculated. It has been suggested that mutations in intron sequences may initiate aberrant mRNA splicing, influence coding region mutations or affect DNA-protein interactions (8-10). Only five polymorphisms were found in coding regions (exons) at codons 21, 36, 47, 72 and 213. Three of them (21, 36 and 213) are silent and do not change amino acid sequence (11-13). The codon 47 polymorphism is rare (14), while polymorphism in codon 72 is common. In various reports, the codon 72 polymorphism was considered as a potential risk factor for different neoplasms, particularly in lung, skin and head and neck carcinomas, but results are controvers...

Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients' BMD and also SNPs and haplotypes association with Graves' disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves' patients. However, the presence of F allele had a weak tendency to be associated with Graves' disease (with OR=1.93; 95% CI: 0.97-3.84; p=0.058). VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves'. It may be speculated that the F allele carriers of the VDR-FokI polymorphism are predisposed to Graves' disease development.

IntroductionCrohn's disease (CD) promotes the development of osteopaenia/osteoporosis, the cytokine background of which is not fully known.AimEvaluation of bone mineral density (BMD), the prevalence of osteopaenia and osteoporosis, and the determination of the levels of selected interleukins (IL), osteoprotegerin (OPG), and s-RANKL proteins in patients with CD in relation to a control group and assessment of the relationship between the tested cytokines, OPG, s-RANKL, and BMD.Material and methodsThirty-seven CD patients and 37 healthy volunteers (control group) were enrolled into the study. Densitometry of the lumbar spine (L2–L4) and of the femoral neck using the DXA technique was carried out. Serum levels of: IL-13, IL-4, IL-17, IL-1β, OPG, and s-RANKL were determined using the ELISA method. Progression-of-disease questionnaires were collected.ResultsThe prevalence of osteoporosis and osteopaenia in the CD group was: 18.92% and 32.43% in L2–L4; 13.51% and 35.13% in the neck, respectively. The IL-13 and IL-1β concentrations were significantly higher and OPG was significantly lower in CD patients when compared to controls. In the case of all subjects: IL-13 correlated negatively with the BMD of the neck, IL-17 correlated negatively with the Z-score of L2–L4, and OPG correlated negatively with the IL-13. In the case of CD patients, IL-4 correlated negatively with the BMD of L2–L4.ConclusionsThe incidence of osteopaenia and osteoporosis in Polish CD patients is high. IL-13, IL-1β, and IL-4 seem to be connected with the pathology of decreased BMD in CD. It can be hypothesised that IL-13 may lower BMD by modulating OPG.

IntroductionPolymorphism in the promoter region of collagen type 1α (COL1A1) +1245G/T (Sp1, rs1800012) was in some studies shown to be relevant for bone mineral density (BMD) and low-energy fracture prediction. The aim of the study was to confirm this finding in a group of postmenopausal women diagnosed with osteoporosis.Material and methodsWe investigated 311 Caucasian women (mean age: 65.2 ±9.39 years) either after low-energy fractures (regardless of the location) or meeting World Health Organization (WHO) criteria for osteoporosis. All patients underwent clinical examination in order to exclude secondary osteoporosis; hip and lumbar spine DEXA was performed (Lunar). The three genotypes of Sp1 polymorphism were determined by RFLP (restriction fragment length polymorphism).ResultsDistribution of COL1A1 genotypes (SS/Ss/ss) agreed with Hardy-Weinberg equilibrium. No relation between COL1A1 genotypes and hip/L1-L4 BMD was found. Fractures were reported in 26.3% of women. Prevalence of low-energy fractures, regardless of the type, was 50.0% in ss genotype carriers, 26.4% in SS homozygotes and 23.7% in Ss heterozygotes. There was no statistically significant recessive or dominant effect of any Sp1 genotype on fracture prevalence (p = 0.613).ConclusionsWe failed to observe that COL1A1 Sp 1 genotypes contribute to BMD determination or are associated with prevalent low-energy fractures in a Polish cohort of postmenopausal osteoporotic women.