Is There a Link between Thyroid Peroxidase Gene Promoter Polymorphisms and Autoimmune Thyroiditis in the Polish Population?

(1) Autoimmune thyroiditis (AIT) is the most common cause of primary hypothyroidism and one of the most frequent organ-specific autoimmune diseases. Its pathogenesis is polygenic and still requires further research. The aim of the study was to assess, for the first time in the Caucasian population, the role of selected gene promoter polymorphisms (rs2071399 G/A, rs2071400C/T, rs2071402 A/G, and rs2071403 A/G) in the development of AIT.

Follicular thyroid cancer in a patient with Pendred syndrome.

We present the clinical and molecular studies of a family with Pendred syndrome, in which one affected individual developed follicular thyroid cancer. Two siblings with classic Pendred syndrome triad were operated on because of enormous multinodular goiter. Histopathology showed a follicular thyroid cancer in the male and a multinodular goiter in the female.

Interleukin 1 beta (IL1beta) gene polymorphisms (SNP-511 and SNP+3953) in Hashimoto's thyroiditis among the Polish population.

Aim: The association between the interleukin IL1 beta gene polymorphisms SNP-511 and SNP+3953 and susceptibility to the development of Hashimoto's thyroiditis among adult Caucasian-Polish population were analyzed.

Patients And Methods: The group studied comprised of 115 unrelated patients with Hashimoto's thyroiditis (112 women and 3 men, mean age 53.3 years).

Influence of infliximab on cytokines network and markers of bone remodeling in rheumatoid arthritis patients.

Purpose: Our aim was to determine the effects of infliximab on bone mineral metabolism in rheumatoid arthritis (RA) patients and analyze the relationship between inflammatory markers of acute phase thought to play a major role in bone remodeling.

Materials And Methods: 36 patients with established RA were investigated. All patients underwent physical examination and blood and urinary analysis at baseline, 2 weeks, 14 weeks, 6 months and 12 months after the initiation of treatment.

Influence of hypertension, obesity and nicotine abuse on quantitative and qualitative changes in acute-phase proteins in patients with essential hypertension.

Background: Hypertension is a powerful risk factor for cardiovascular disease and frequently occurs in conjunction with obesity. Accumulative evidence suggests a link between inflammation and hypertension. The aim of study was to evaluate whether blood pressure, obesity and smoking may influence acute-phase response.

Bone tissue metabolism in men with ankylosing spondylitis.

Purpose: The aim of the study was the composite estimation of bone tissue metabolism in ankylosing spondylitis (AS) after having taken into account such factors as a high risk of incidence of osteoporosis in patients with AS and potential danger of permanent immobility.

Material And Methods: Sixty-six patients with established diagnosis of AS and 63 healthy individuals in the control group were included into the study. To measure bone mineral density (BMD) the dual energy X-ray absorptiometry (DEXA) method was used.

XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population.

It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE) and that the X-ray repair cross-complementing (XRCC1) Arg399Gln (rs25487) polymorphism may contribute to DNA repair. We evaluated the frequency of the XRCC1 Arg399Gln substitution in patients with SLE (n=265) and controls (n=360) in a sample of the Polish population. The odds ratio (OR) for SLE patients with the Gln/Gln versus Gln/Arg or Arg/Arg genotypes was 1.

Acorn: a grid computing system for constraint based modeling and visualization of the genome scale metabolic reaction networks via a web interface.

Background: Constraint-based approaches facilitate the prediction of cellular metabolic capabilities, based, in turn on predictions of the repertoire of enzymes encoded in the genome. Recently, genome annotations have been used to reconstruct genome scale metabolic reaction networks for numerous species, including Homo sapiens, which allow simulations that provide valuable insights into topics, including predictions of gene essentiality of pathogens, interpretation of genetic polymorphism in metabolic disease syndromes and suggestions for novel approaches to microbial metabolic engineering. These constraint-based simulations are being integrated with the functional genomics portals, an activity that requires efficient implementation of the constraint-based simulations in the web-based environment.

Target therapies in systemic lupus erythematosus: current state of the art.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease of unknown etiology and limited available therapeutic options frustrating both clinicians and patients. However, recent advances in the understanding of disease mechanisms have given rise to numerous studies on specific approaches to SLE treatment. The purpose of this review is to explain the rationale for new treatments and results of the first clinical studies.

Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.

Oestrogens acting via nuclear receptors (encoded by ESR1 or ESR2) are important for pathogenesis of systemic lupus erythematosus (SLE). rs2234693 and rs4986938 are two single nucleotide polymorphisms (SNPs) whose C and A variants increase transcription of ESR1 and ESR2, respectively. The T allele of rs2234693 was associated with early onset SLE, whereas the role of rs4986938 in SLE was not reported.

ITGAM Arg77His is associated with disease susceptibility, arthritis, and renal symptoms in systemic lupus erythematosus patients from a sample of the Polish population.

The ITGAM Arg77His (rs1143679) and Ala858Val (rs1143683) polymorphisms have been found to be strong contributors to systemic lupus erythematosus (SLE) development. There are evident population distinctions in terms of SLE distribution and manifestations; therefore, we investigated the distribution of the ITGAM Arg77His and Ala858Val polymorphisms in patients with SLE (n = 154) and control subjects (n = 276) in a sample of the Polish population. We observed that patients with the ITGAM His/His and Arg/His genotypes displayed a 1.

Association between IL-17F gene polymorphisms and susceptibility to and severity of rheumatoid arthritis (RA).

Interleukin-17F (IL-17F) is a novel proinflammatory cytokine. IL-17F gene is an excellent candidate for chronic inflammatory disease. We investigated the association between rheumatoid arthritis (RA) and His161Arg (7488A/G; rs763780) and Glu126Gly (7383A/G; rs2397084) polymorphism of IL-17F gene.

Interleukin-10 gene promoter polymorphism in Polish rheumatoid arthritis patients.

Interleukin (IL)-10 is an important multifunctional cytokine with both anti-inflammatory and immunoregulatory effects in rheumatoid arthritis (RA). In the present study, we evaluated the frequency and potential impact of IL-10 promoter polymorphisms on susceptibility to and severity of RA in Polish in - patients with a high disease activity (mean DAS 28 C-reactive protein 5.25).

CD24 Ala57Val gene polymorphism and the risk of systemic lupus erythematosus.

It was recently shown that the CD24 Ala57Val (rs 52812045) polymorphism plays a significant role in susceptibility to systemic lupus erythematosus (SLE) in a Spanish population, which has not been confirmed in other ethnic groups. We investigated the distribution of the CD24 Ala57Val polymorphism in patients with SLE (n = 250) and controls (n = 350) in Poland. The odds ratio (OR) for patients with SLE with the Ala/Val genotype compared with Ala/Ala genotype was 1.

Perforin level in CD4+ T cells from patients with systemic lupus erythematosus.

CD4(+) T cells from patients with systemic lupus erythematosus (SLE) exhibit increased expression of various proteins contributing to defective function of CD4(+) T cells. We evaluated the transcript and protein levels of perforin (PRF1) in CD4(+) T cells from SLE patients (n = 41) and healthy individuals (n = 34). The CD4(+) T cells were obtained by a positive biomagnetic separation system.

Fyn and CD70 expression in CD4+ T cells from patients with systemic lupus erythematosus.

Objective: CD4+ T cells from patients with systemic lupus erythematosus (SLE) display defective function that contributes to abnormal activation of B cells and autoantibody production.

Methods: We compared the transcript and protein levels of Fyn and CD70 in CD4+ T cells from patients with SLE (n = 41) and healthy individuals (n = 34). The CD4+ T cells were isolated by positive biomagnetic separation technique.

[Influence of genetic factors on development and severity of rheumatoid arthritis--part II].

In our previous paper we have presented recent advances in the knowledge of the genetic risk factors predisposing to rheumatoid arthritis development. In contrast to the progress that has been made in identification of genes responsible for susceptibility to RA, there is still little known about genetic risk factors of the more aggressive and (or) refractory RA. In this part of our review we present a detailed knowledge of the role of genetic factors in severity of RA.

[Influence of genetic factors on development and severity of rheumatoid arthritis--part I].

Both genetic and environmental factors affect susceptibility, severity and probably drugs' efficacy in patients with rheumatoid arthritis (RA). After initial completion of the Human Genome Project on the 16th February 2001, significant progress has been made in identifying other than HLA genome regions linked to the increased RA susceptibility. As an effect several new genes have been recognized as an HLA-independent genetic risk factors of RA.

SDF1-3' G801A polymorphisms in Polish patients with systemic lupus erythematosus.

It has been reported that stromal cell-derived factor-1 (SDF1), currently also designated CXCL12, plays a significant role in the development of nephritis and death in the lupus mice model. Using restriction length fragment polymorphism (RFLP) analysis we assessed the frequencies of SDF1-3' G801A (rs 1801157) polymorphic variants between systemic lupus erythematosus (SLE) patients (n = 150) and controls (n = 300). There were no significant differences in the prevalence of SDF1-3' G801A polymorphic variants in SLE patients and healthy individuals.

Sarcoidosis: selected clinical cases.

Two interesting cases of sarcoidosis and associated diagnostic challenges have been presented. Clinical similarities and disparities in the course of sarcoidosis and systemic connective tissue diseases, particularly Sjögren's syndrome, have been addressed. It has been highlighted that all organs, not only the lungs but also for example the liver, can be involved in sarcoidosis.

Asp327Asn polymorphism of sex hormone-binding globulin gene is associated with systemic lupus erythematosus incidence.

Endogenous sex hormones have been observed to have a role in systemic lupus erythematosus (SLE) predisposition. Sex hormone-binding globulin (SHBG) regulates the bioavailability of sex hormones to target tissues. Therefore, we examined the distribution of the SHBG functional polymorphism Asp327Asn (rs6259) in SLE patients (n = 150) and controls (n = 150) in a Polish population.

The CD3Z 844 T>A polymorphism within the 3'-UTR of CD3Z confers increased risk of incidence of systemic lupus erythematosus.

Recently, a family-based association analysis showed that the haplotype carrying a low expression of the variant CD3Z 844 T>A (rs1052231) polymorphism located in the 3'-untranslated region of CD3Z predisposes to systemic lupus erythematosus (SLE) incidence. We analyzed the prevalence of the CD3Z 844 T>A polymorphism in SLE patients (n = 152) and controls (n = 304) in Poland. We observed that women with the CD3Z AA and CD3Z AT genotypes exhibited a 1.

IL-18 105 A>C polymorphism contributes to renal manifestations in patients with SLE.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune connective tissue disorder characterized by various aberrations including increased production of IL-18. As IL-18 105 A>C polymorphic variants have been linked to increased production of this cytokine, we investigated the prevalence of IL-18 105 A>C (rs549908) polymorphic variants in SLE patients (n = 111) and controls (n = 152). There were no significant differences in the distribution of IL-18 105 A>C polymorphic variants in SLE patients and controls.

Interleukin-1beta gene (IL-1beta) polymorphisms (SNP -511 and SNP +3953) in thyroid-associated ophthalmopathy (TAO) among the Polish population.

Objective: The aim of this study was to evaluate whether the IL-1beta gene could be a genetic marker of the thyroid-associated ophthalmopathy (TAO) development.

Materials And Methods: The IL-1beta gene polymorphisms at -511 and +3953 regions in 117 TAO patients of Polish origin (ATA/NOSPECS class III or greater) and in 106 controls were studied.

Results: We found no significant differences in the frequencies of genotypes and allelic variants for SNP -511 and SNP +3953 between the controls and the studied groups.

Contribution of the R620W polymorphism of protein tyrosine phosphatase non-receptor 22 to systemic lupus erythematosus in Poland.

The protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C>T poly-morphic variant gene (rs2476601) displays an association with systemic lupus erythematosus (SLE) and other autoimmune diseases. However, its contribution to SLE has been found to be disputable. We therefore examined the association of PTPN22 1858 C>T polymorphism with susceptibility to SLE in the Polish population, among patients with SLE (n=150) and controls (n=300).