Aims/hypothesis In the present study we investigated potential associations of a set of 45 single nucleotide polymorphisms (SNP) in 20 candidate genes on eight chromosomes with diabetic nephropathy (DN) in type 2 diabetes mellitus. We aimed to compare two methodological approaches suitable for analysing susceptibility to complex traits: single-and multi-locus analyses. Materials and methods The study comprised a total of 647 subjects in one of three groups: diabetes with or without DN, or no diabetes. Genotypes were detected by PCRbased methodology (PCR only, PCR plus RFLP, or allelespecific PCR). Haplotypes were inferred in silico. Set association (tested using SUMSTAT software) was used for multilocus analysis.
Background: Excessive angiogenesis is one of the characteristic features of psoriasis. Objective: To determine the possible genetic background of neo-angiogenesis in plaque psoriasis, frequent polymorphisms in matrix metalloproteinase 2 (MMP-2) and endothelin 1 (ET-1) genes were studied. Methods: The case group (n = 119) included patients with plaque psoriasis, aged 44 ± 15 years. The age of onset of psoriasis was 27 ± 11 years. The control group (n = 184) consisted of healthy subjects without any individual history of psoriasis, aged 37 ± 15 years. C(-735)T MMP-2 and G(8002)A ET-1 polymorphisms were determined by PCR reaction with subsequent restriction analyses. Results: A significant difference in genotype distribution of C(-735)T MMP-2 between psoriatic and control patients was found (pcorr = 0.008). Two associated genotypes (CCGG and CTGG) of the two polymorphisms were significantly less frequent in psoriatic patients (pcorr = 0.03 and pcorr = 0.008, respectively). Conclusion: The results seem to reflect a different susceptibility of MMP-2 as well as of some associated MMP-2 and ET-1 genotypes to psoriasis.
This study focused on the association between plaque psoriasis and polymorphisms of several inflammation genes. Included in the study were 142 Caucasian (Czech) patients with plaque psoriasis and 141 healthy subjects. The genotypes of the polymorphisms in angiotensinogen [M235T ATG, A(-6)G ATG], in transporters associated with antigen processing TAP1 (TAP1*0101, TAP*02011 and TAP1*0301) and in lymphotoxin alpha (TNFbeta) (NcoI in intron 1) were detected by polymerase chain reaction-based methods and restriction enzyme analysis. An increase in B1 (less frequent) allele of NcoI TNFbeta polymorphism was found in psoriatic patients compared to healthy individuals (odds ratio = 1.6, 95% confidence interval 1.13-2.26, P = 0.006). A positive family history of psoriasis was associated with a higher B1 allele frequency in NcoI TNFbeta (P = 0.011). Hardy-Weinberg disequilibrium was found in TAP1 polymorphism A-->G at nucleotide 1207 in psoriatic patients. A case-control difference was found in the allelic concurrence of M235T and A(-6)G ATG polymorphisms. The most frequent population genotypes MMGG, MTAG and TTAA were observed in 92% of patients vs 74% of control subjects (odds ratio 0.29, 95% confidence interval 0.14-0.60, P = 0.0003). A positive history of tonsillitis and/or tonsillectomy was associated with a higher T allele frequency of the M235T ATG polymorphism (P = 0.037) as well as with a higher G allele frequency of the A(-6)G ATG polymorphism (P = 0.022). Polymorphisms in proinflammatory angiotensinogen and TNFbeta genes were associated with plaque psoriasis, a positive family history of psoriasis and with frequent tonsillitis in childhood.
The aim of the study was to assess the existence of possible associations among frequent polymorphisms in angiotensinogen genes and some of the risk factors for essential hypertension, especially body mass index (BMI) and smoking. A total of 192 control subjects (aged 45.87 ± 3.0 years) and 206 patients with the essential hypertension (aged 48.71 ± 8.42 years) were compared at three angiotensinogen gene polymorphisms by considering BMI and smoking status. No significant differences in genotype and/or allelic distribution for either A (-6) G ATG, M235T or T174M polymorphisms between the hypertensive and control groups were proved. Significantly more hypertensives than control persons with BMI above 25 kg/m 2 were observed (P corr = 0.009), independently on sex distribution. A percentage of 44.6% of smokers in the control group vs 46.0% of smokers in the hypertensive groups were found. No significant dif-
To prove whether the interaction between insertion/deletion (I/D) angiotensin I converting enzyme (ACE) and M235T angiotensinogen (AGT) gene polymorphic alleles could contribute to causing essential hypertension, we examined subjects from the Czech Republic (365 Caucasians total; 202 normotensives and 163 hypertensives). Subjects were genotyped for insertion/deletion polymorphism of ACE (I/D ACE, intron 16) and for M235T polymorphism of angiotensinogen gene (AGT, exon 2) by means of the polymerase chain reaction (PCR) method. The case-control approach was used. Fisher's exact test followed by Holmes's test to overcome the problem of multiple comparisons were used for the statistical analysis of data. No association of single gene allelic variants with essential hypertension was found in our population. Having compared only double homozygote combinations, the association of the DDMM genotype with essential hypertension was proven (P = 0.0081). To the contrary, IITT (P = 0.0086) was found more frequently in normotensive subjects. We conclude that the interaction of the I/D ACE and M235T AGT polymorphic alleles can contribute to essential hypertension, despite the absence of single gene associations with the condition.
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