Search

Psoriatic arthritis (PsA) is a chronic inflammatory disorder that belongs to the group of spondyloarthritis (SpA). It was found that single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase (ERAP1 and ERAP2) genes influence the risk of ankylosing spondylitis, the most common form of SpA and the risk of psoriasis. Our purpose was to investigate the possible association of ERAP1 and ERAP2 gene SNPs with psoriatic arthritis susceptibility in Romanian population. Subsequent analyses included patients' subgroups according to HLA-B27 status. Psoriatic arthritis patients (N = 98) and random healthy controls (N = 139) were genotyped for ERAP1/2 genes SNPs rs30187, rs27044, rs2910686, and rs2248374 by TaqMan Allelic Discrimination Assays. An additional control group (N = 108; 100% HLA-B27 positive) was used for subsequent analyses. The results showed the association of rs2248374 SNP of ERAP2 gene with the risk of PsA, especially for HLA-B27 negative disease (p = 0.02; OR 1.59). ERAP2 haplotype GT (rs2248374/rs2910686) was significantly under-represented in PsA patients than in controls (43 vs. 55%; p = 0.02). The analysis of ERAP1 SNPs in HLA-B27 positive controls and PsA subgroup showed strong evidence of association for rs30187 (p = 0.005; OR 2.73) and for CC rs30187/rs27044 haplotype (47% in patients vs. 70.5% in controls; p = 0.006). In conclusion, we found a significant association of ERAP2 with PsA and HLA-B27 negative PsA, while ERAP1 association was restricted only to HLA-B27 positive disease. To our knowledge, this is the first study that investigated ERAP2 polymorphisms in relation to PsA susceptibility.

The Transylvanian bush-cricket, Pholidoptera transsylvanica, is a protected mesophytic species endemic to the Carpathian Mountains grasslands. We developed 14 polymorphic microsatellite markers in order to investigate the population genetic structure of this species. These markers were tested on a population sample and the average number of alleles was 10.929 ± 0.730, while the mean of the observed and expected heterozygosities was 0.820 ± 0.020 and 0.814 ± 0.019 respectively. These markers can become a useful tool in genetic studies important in conservation strategies for this species.

Background The cytokines IL12 and IL23 have been recently implicated in the pathogenesis of psoriatic arthritis (PsA). In this study we investigated the genetic variations in the genes coding for IL12, IL23 and IL23 receptor as a plausible source of susceptibility and modification of clinical symptoms of PsA in Romanian population. Methods Twenty five SNPs mapping to IL12A, IL12B, IL23A, IL23R and IL12RB1 genes were genotyped in 94 PsA patients and 161 healthy controls of Romanian ethnicity using the Sequenom genotyping platform. Results The exonic SNP rs11171806 from IL23A gene was significantly underrepresented in patients versus controls (p = 0.03, OR 0.391) and the carriers of rs11171806/rs2066808 AC haplotype had decreased risk for PsA (p = 0.03). The two SNPs of the highly conserved gene IL23A are in complete LD in our population. Genetic variants of IL12B gene were associated with polyarticular subtype of PsA. No associations were found between SNPs from IL12A, IL23R and IL12RB1 genes and susceptibility to PsA and its phenotypes. Conclusion We confirm the previously described association of rs2066808 variant with psoriasis and PsA and we show evidence of an extended genomic region inside IL23A gene as carrier of true disease susceptibility factors. These data suggest a role for IL23 in the PsA pathogenesis in Romanians.

Tumor necrosis factor alpha (TNF-alpha) is an important pro-inflammatory cytokine implicated in the pathogenesis of psoriatic arthritis. We have performed a case-control association study of three TNF-alpha gene polymorphisms in a group of Romanian psoriatic arthritis patients versus ethnically matched controls. A second group of patients with undifferentiated spondyloarthritis was used in order to look for similarities in the genetic background of the two rheumatic disorders. The −857C/T polymorphism was associated with susceptibility to psoriatic arthritis in our population at the individual level (p = 0.03, OR 1.65, 95% CI 1.05–2.57) and in combined haplotypes with the −238G/A and −308G/A SNPs. Regarding the investigated polymorphisms and derived haplotypes, no potential association was found with the susceptibility to undifferentiated spondyloarthritis in Romanian patients.

We determined the distribution of human leukocyte antigen-C (HLA-C) allelic groups in a cohort of psoriatic arthritis (PsA) patients and a control population of Romanian ethnicity. A nominal association of HLA-C*06 with susceptibility to PsA was observed [P = 0.014, p(corr) > 0.05, odds ratio (OR) 2.1, 95% confidence interval (CI) 1.08-4.46]. When subanalyzing data according to PsA clinical phenotypes, association was noticed between HLA-C*06 and PsA with psoriasis onset before 40 years (p(corr) = 0.013, OR 3.7, 95% CI 1.58-9). This first report from Romania confirmed the association of HLA-C*06 with type I psoriasis in PsA patients. Other study findings, such as the relationship between HLA-C*06 and spondylitis or the protective effect of HLA-C*07 for the polyarthritis clinical phenotype of PsA, are of preliminary character and require verification.

We describe here eight polymorphic microsatellite markers for Nannospalax leucodon, an exclusively subterranean and highly specialized rodent species which exhibits range contractions and population declines in Europe. The level of polymorphism was tested on 36 individuals of blind mole rat from Doubroudja region, in South-Eastern part of Romania. The number of alleles across all loci ranged from 7 to 12, with an average of 6.1 ± 0.571 alleles per locus. Observed heterozygosity ranged from 0.735 to 1. These loci will be a useful tool for the study of genetic structure and diversity of blind mole rat populations, whit immediate consequences in conservation strategy for these species.

The analysis of 310 Romanian spondyloarthritides patients confirmed the association of the HLA-B27 marker with the susceptibility to different diseases of this group. For ankylosing spondylitis, the HLA-B27 frequency in Romanian patients (72.1%) was similar to that found in several regions in the Mediterranean area.

To analyze the contribution of the Czech population to the Y-chromosome diversity landscape of Europe and to reconstruct past demographic events, we typed 257 males from five locations for 21 UEPs. Moreover, 141 carriers of the three most common haplogroups were typed for 10 microsatellites and coalescent analyses applied. Sixteen Hg's characterized by derived alleles were identified, the most common being R1a-SRY(10831) and P-DYS257*(xR1a). The pool of haplogroups within I-M170 represented the third most common clade. Overall, the degree of population structure was low. The ages for Hg I-M170, P-DYS257*(xR1a), and R1a-SRY(10831) ap peared to be comparable and compatible with their presence during or soon after the LGM. A signal of population growth beginning in the first millennium B.C. was detected. Its similarity among the three most common Hg's indicated that growth was characteristic for a gene pool that already contained all of them. The Czech population appears to be influenced, to a very moderate extent, by genetic inputs from outside Europe in the post-Neolithic and historical times. Population growth postdated the archaeologically documented introduction of Neolithic technology and the estimated central value coincides with a period of repeated changes driven by the development of metal technologies and the associated social and trade organization.

About 30% of couple infertilities are of male origin, some of them caused by genetic abnormalities of the Y chromosome. Deletions in AZF region can cause severe spermatogenic defects ranging from non‐obstructive azoospermia to oligospermia. The intracytoplasmatic sperm injection technique (ICSI) is rapidly becoming a versatile procedure for human assisted reproduction in case of male infertility. The use of ICSI allows Y chromosome defects to be passed from father. The goal of our study is to evaluate the frequency of microdeletions in the long arm of Y chromosome, within the AZF regions, in these cases of infertilities, using molecular genetics techniques. Thirty infertile men with azoospermia or oligozoospermia, determined by spermogram, were studied after exclusion of patients with endocrine or obstructive causes of infertility. Peripheral blood DNA was extracted from each patient, then amplified by multiplex PCR with STS genomic markers from the Y chromosome AZF zones. Each case was checked by multiplex PCR through coamplification with the SRY marker. Three men with microdeletions of the long arm of the Y chromosome were diagnosed among the 30 patients, corresponding to a proportion of 10%. The relatively high proportion of microdeletions found in our population suggest the need for strict patient selection to avoid unnecessary screening for long arm Y chromosome microdeletions. The molecular diagnostics was performed according to the current European Academy of Andrology laboratory guidelines for molecular diagnosis of Y chromosomal microdeletions.

In this paper we describe a multiplex PCR useful to as-sign some major Y chromosome tree branches (DE, G2, I, J and J2) (for the nomenclature of the Y chromosome tree branches, see YCC 2002). These are prev alent in all Southern European populations, accoun ting between 51% and 77% of the total male population (Di Giacomo et al. 2003 and personal data). The identification of the allelic state at every locus in the study is done either directly (presence/a bsenc e of the specific PCR fragment), or can be simply obtained with further sequential steps of dot-blot hybrid ization with specific probes. In the last years a large number of single nucleotide polymorphic (SNP) binary markers have been identified in the non-recombining portion of the human Y chrom o-some (NRY) (YCC 2002). SNPs are ideal genetic mar k-ers for med ical and population genetic studie s, since they are widespread in the human genome and are easily de-tected by PCR based methods. In general, the SNPs ex-hibit only two, evolutionarily stable, alleles. This ad van t-age is often counterbalanced by the necessity of typing large numbers of them in many individuals. Genotyping for these markers is of great importance in forensics and in association studies. Moreover, since the NRY lacks genetic recombination during meioses, it is a pow erful tool in phylogenetic studies. In order to increase the pro-ductivity of such studies, the first choice will be to study simultaneously more SNPs in a single multiplex PCR reaction. Two papers concerning the use of mult iplex PCR in the study of the human Y chromosome SNP variation have been published recently. One of them uses a mini-sequencing/capillary electrophoresis method for Y chro-mosome typing in forensic studies (Sanchez et al. 2003); the other one uses a primer extension/mass spectroscopy method for high throughput SNP genotyping of the Y chromosome (Paracchini et al. 2002). The method pre-sented here provides a reliable effort-effective, time-effec -tive and cost-effective method for the early stages of human Y chromosome genotyping, being particularly useful when little information or no information at all is available about the genetic structure of the population under study.

In this study we analyzed comparatively the host-parasite associations between two fish host species invasive in Europe (Lepomis gibbosus and Pseudorasbora parva) and one known generalist parasite species, the copepod Lernaea cyprinacea. We used a fragment of the hypervariable region D1-D2 of the 28S rRNA to confirm that the copepod specimens collected on both host species in our study are indeed conspecific. The prevalence of infection was significantly different between the two host species in all three aquatic ecosystems. Two populations of L. gibbosus exhibited a positive correlation coefficient between the standard body length and infection intensity, while a negative correlation coefficient was observed in one population of P. parva. This is one of the few studies providing parasitological parameters of infections of Lernaea cypriancea in Lepomis gibbosus and Pseudorasbora parva.

The major aim of this study is to describe the first microsatellite loci for the stone-crayfish (Austropotamobius torrentium), by cross-species amplification. Austropotamobius torrentium is a priority species in the EU Habitats Directive and it needs effective conservation management efforts throughout Europe. We tested cross-species amplification of 55 decapod microsatellite primer pairs in A. torrentium and only ten of these loci, from relatively close related species, yielded PCR products of expected sizes. Five of the ten microsatellites proved to be polymorphic (allele numbers ranging from 4 to 14 in a set of 35 individuals). Three of the loci exhibited departure from Hardy-Weinberg equilibrium which could be explained by the presence of null alleles. A forth locus exhibiting HWE deviation, but no null alleles, suggest the possible presence of population substructure of the species in the investigated area. These microsatellite markers are useful for population genetic studies of stone-crayfish.