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Gestational diabetes mellitus ( GDM) is a metabolic disorder that occurs during pregnancy. HHEX and PROX1 are genetic loci associated with diabetes mellitus type 2. HHEX and PROX1 play significant roles in carbohydrate intolerance and diabetes because these transcription factors may be involved in the regulation of insulin secretion and in glucose and lipid metabolism. The aim of this study was to examine the association between HHEX (rs5015480) and PROX1 (rs340874) gene polymorphisms and GDM. This study included 204 pregnant women with GDM and 207 pregnant women with the normal glucose tolerance ( NGT). The diagnosis of GDM was based on a 75-g oral glucose tolerance test at 24-28 weeks' gestation. There was a statistically significant prevalence of the HHEX rs5015480 CC genotype and C allele among women with GDM (C vs T allele, p = 0.021, odds ratio OR = 1.40, 95% CI: 1.05-1.87). Statistically significant higher increase of body mass and BMI during pregnancy was found in women with the HHEX rs5015480 CC genotype. The results of our study suggest an association between the HHEX gene rs5015480 polymorphism and risk of GDM. The HHEX gene rs5015480 C allele may be a risk allele of GDM that is associated with increased BMI during pregnancy. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Post-transplant diabetes mellitus (PTDM) is a common complica- tion after organ transplantation which leads to impaired graft function. Various factors may increase the risk of the development of PTDM. It has been reported that cytokines and genetic variations of inflammatory cytokines were associated with glucose homeostasis or diabetes. The pro-inflammatory cytokine IL-17, which is produced by T-helper 17 (Th17) cells, has been reported to be involved in the glucose metabolism and pathogenesis of diabetes via the induction of low-grade inflammation. The aim of this study was to examine the association between polymorphisms in the IL17A (rs2275913) and IL17F (rs11465553, rs2397084, rs763780) genes with post-transplant diabetes mellitus. PATIENTS AND METHODS: The study included 169 patients of Caucasian origin who received kidney transplants. For the purpose of the study, the patients were subdivided into two subgroups: patients with PTDM (n = 23) and patients without PTDM (n = 146). Standard immunosuppression consisted of tacrolimus, mycophenolate mofetil, and steroids. RESULTS: Post-transplant diabetes was diagnosed in 10.97% of the carriers of the IL17F rs763780 TT genotype and 42.86% of those with the TC genotype (TC vs TT: OR = 6.09, 95% CI 1.89-19.66, p = 0.0048). In multivariate analysis, older recipient age and the presence of the TC genotype were independent significant predictors of higher risk of post-transplant diabetes. CONCLUSIONS: The results of this study suggest an association between the IL17F rs763780 polymorphism and post-transplant diabetes. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Methotrexate (MTX) in low doses is used in the therapy of rheumatoid arthritis (RA).The aim of many studies is to identify factors predicting the outcome of treatment with methotrexate in rheumatoid arthritis. The action of MTX in RA is associated with the inhibition of inflammatory mediators synthesis. CXCL9 and CXCL10 chemokines play the important role in inflammatory response in RA patients. The aim of this study was to examine the association between CXCL9/10 gene polymorphisms and response to therapy of RA patients with MTX. PATIENTS AND METHODS: The study included 422 patients diagnosed with rheumatoid arthritis, treated with MTX in doses 20 mg weekly. Good responders were defined as patients who were receiving MTX and had a DAS28 of ≥ 2.5 at 6 months of therapy. Poor-re-sponders were defined as patients who were receiving MTX and had a DAS28 of > 2.5. RESULTS: There were not statistically significant associations between studied polymorphisms and the outcome of rheumatoid arthritis treatment with methotrexate. CONCLUSIONS: The results of this study suggest lack of associations between the polymorphisms in CXCL9 and CXCL10 genes and the response to MTX in RA patients. [ABSTRACT FROM AUTHOR]

Presenilin 2 gene ( PSEN2) is one of the causative genes for familial Alzheimer’s disease. A delA polymorphism located in PSEN2 promoter was proposed to be a risk factor for early-onset AD. We examined association between AD and PSEN2 polymorphisms located in two 5′UTR regions in group of 217 late-onset AD patients, 109 mild cognitive impairment patients, and 225 non-demented control subjects. No significant differences for genotype and allele distributions of a delA and a novel insAC polymorphisms in the studied groups as compared to controls were observed. Univariate and multivariate risk estimation shows that neither delA, insAC alleles nor the genotypes are risk factors for AD. No significant interaction between the APOE4 and PSEN2 polymorphisms was found. A bioinformatic analysis showed that delA polymorphism influences binding sites of transcription factors involved in the cellular processes related to AD. The rare variants identified in exon 3 of the PSEN2 could have a potential influence on PSEN2 transcript splicing. [ABSTRACT FROM AUTHOR]

Allergic asthma is a chronic inflammatory disease in which interleukin-18 (IL-18) plays an important role. However, there are controversial reports on IL-18 promoter polymorphism as an independent marker of asthma susceptibility. The aim of the present study was to examine the IL-18 promoter polymorphism in patients with allergic asthma. Two hundred and thirty-one patients with allergic asthma from a Polish population diagnosed according to the National Heart, Lung, and Blood Institute (NHLBI)/WHO guidelines were examined. An allele-specific polymerase chain reaction was used to analyse polymorphisms at positions −137 and −607 in the promoter region of the IL-18 gene. Neither in the −607 C>A nor in the −137 G>C promoter polymorphism were there any differences observed between the total group of asthmatic patients and the controls in the frequencies of genotypes, alleles, diplotypes or haplotypes. In patients with severe asthma, the −607 CC and −137 GG genotypes were observed significantly more frequently ( P = 0.03 for both), whereas in patients with mild and moderate asthma, the −137 CC genotype was more prevalent than in the former group. The strongest difference between mild to moderate and severe asthma was observed in −137 allele frequencies ( P = 0.006). The results of the present study suggest that the −137 G allele and the C-G/C-G diplotype seem to be involved in the pathogenesis of the severe form of asthma. [ABSTRACT FROM AUTHOR]

The -22c/t polymorphism in the promoter of the presenilin 1 gene is associated with increased risk for Alzheimer’s disease (AD) in some populations. It was shown that -22c allele is connected with two-fold decrease in promoter activity. We studied the impact of the polymorphism in groups of Polish late-onset and early-onset AD patients. Our results suggest that -22c/t polymorphism is not connected with AD in Polish population. The -22t allele showed a high degree of linkage disequilibrium with -2797 insertion of 13?bp. An additional -2923g/t polymorphism is also not connected with -22c/t and is not a risk factor for AD. [ABSTRACT FROM AUTHOR]