Luis Ovidiu Popa

Association study in Romanians confirms IL23A gene haplotype block rs2066808/rs11171806 as conferring risk to psoriatic arthritis

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.

Functional variants of ERAP1 gene are associated with HLA‐B27 positive spondyloarthritis

We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139). Both single nucleotide polymorphisms (SNPs) were associated with the risk of spondyloarthritis [odds ratio (OR) 1.80, 95% confidence interval (CI) 1.24-2.62, P = 0.001 for rs30187, OR 1.58, 95% CI 1.07-2.34, P = 0.02 for rs27044]. The CC haplotype was a protective factor (P = 0.002), while the TG haplotype was a risk factor (P = 0.01) for spondyloarthritis. The SNP rs30187 was also associated with the risk of HLA-B27+ AS. For the general group of AS, the carriers of minor alleles showed an increased risk for the disease (OR 1.92, 95% CI 1.17-3.13 for rs30187, OR 1.74, 95% CI 1.08-2.80 for rs27044). This is the first study that shows the association of ERAP1 gene variants and haplotypes with HLA-B27 positive spondyloarthritis.

HLA‐C locus and genetic susceptibility to psoriatic arthritis in Romanian population

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.

A Pilot Study of the Association of Tumor Necrosis Factor Alpha Polymorphisms with Psoriatic Arthritis in the Romanian Population

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.

Sinanodonta woodiana (Mollusca: Bivalvia: Unionidae): isolation and characterization of the first microsatellite markers.

Sinanodonta woodiana (Lea, 1834) is a large Unionid species with a real invasion success. It colonized Europe, Central America, the Indonesian Islands and recently North America. The species life cycle involves a larval parasitic stage on freshwater fish species which contributes to the spread of the mussel. In this paper we describe, for the first time, eight polymorphic microsatellite loci for the species Sinanodonta woodiana. The genetic screening of individuals confirmed that all loci were highly polymorphic. The number of alleles per locus ranged from 7 to 14 and the observed heterozygosity ranged from 0.650 to 0.950. These loci should prove useful to study the species population genetics which could help to infer important aspects of the invasion process.

Distribution of HLA-B27 in Romanian spondyloarthritides patients.

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.

Isolation and Characterization of New Microsatellite Markers for the Invasive Softshell Clam, Mya arenaria (L.) (Bivalvia: Myidae)

The invasive softshell clam (Mya arenaria Linnaeus, 1758) is native to the northwestern region of the Atlantic Ocean. This species has been introduced in the northeast Pacific and along the European coasts, due to intense naval transports and aquaculture, and it is now present in all the European seas. In this paper we describe seven new microsatellite loci for Mya arenaria. The isolated loci are polymorphic with a number of alleles per locus between 6 and 14. The observed and expected heterozygosities ranged from 0.417 to 0.951, and from 0.643 to 0.895, with an average of 0.716 and 0.775, respectively. These microsatellite markers should be useful in analyzing this species’ genetic diversity, which could explain various processes of its invasion history.

Isolation and Characterization of the First Microsatellite Markers for the Endangered Relict Mussel Hypanis colorata (Mollusca: Bivalvia: Cardiidae)

Hypanis colorata (Eichwald, 1829) (Cardiidae: Lymnocardiinae) is a bivalve relict species with a Ponto-Caspian distribution and is under strict protection in Romania, according to national regulations. While the species is depressed in the western Black Sea lagoons from Romania and Ukraine, it is also a successful invader in the middle Dniepr and Volga regions. Establishing a conservation strategy for this species or studying its invasion process requires knowledge about the genetic structure of the species populations. We have isolated and characterized nine polymorphic microsatellite markers in H. colorata. The number of alleles per locus ranged from 4 to 28 and the observed heterozygosity ranged from 0.613 to 1.000. The microsatellites developed in the present study are highly polymorphic and they should be useful for the assessment of genetic variation within this species.

Molecular insights into the taxonomy of Hypanis (Bivalvia, Cardiidae, Lymnocardiinae) in the Black Sea lagoons

In this study, we used data from morphology and three DNA markers to assess the taxonomic status of the putative bivalve species Hypanis colorata and Hypanis angusticostata in a Black Sea lagoon, the Razelm Lake in Romania. The morphological data (the shape of shell ribs and the multivariate analysis of morphometric variance of three variables constructed as the ratios between the main dimensions of the shell) confirmed that the two analyzed species are distinct morphological entities. Three molecular markers, one from the nuclear genome (18S rRNA) and two from the mitochondrial genome (16S rRNA and COI), showed extremely reduced sequence divergence (0–0.1%) between the two putative species. Based on these results, we suggest that H. angusticostata and H. colorata are morphotypes of a single species.

XENODIVERSITY OF DECAPOD SPECIES (CRUSTACEEA: DECAPODA: REPTANTIA) FROM THE ROMANIAN WATERS

Xenodiversity of decapod species (Crustaceea: Decapoda: Reptantia) from the Romanian waters This paper is a synthesis of the faunistic data present in the specialized literature on the alien decapod species identified in the Romanian fauna between 1951 and 2010: Orconectes limosus (Rafinesque, 1817), Callinectes sapidus Rathbun, 1896, Rhithropanopeus harrisii (Gould, 1841), Eriocheir sinensis H. Milne Edwards, 1853, Hemigrapsus sanguineus (de Haan, 1835), Palaemon macrodactylus Rathbun, 1902, Dyspanopeus sayi (Smith, 1869). Xenodiversitatea speciilor de decapode (Crustacea: Decapoda: Reptantia) din apele româneşti Această lucrare reprezintă o sinteză a datelor faunistice existente până în prezent în literatura de specialitate în ce priveşte speciile de decapode străine identificate în fauna României între anii 1951 şi 2010: i Orconectes limosus (Rafinesque, 1817), Callinectes sapidus Rathbun, 1896, Rhithropanopeus harrisii (Gould, 1841), Eriocheir sinensis H. Milne Edwards, 1853, Hemigrapsus sanguineus (de Haan, 1835), Palaemon macrodactylus Rathbun, 1902 şi Dyspanopeus sayi (Smith, 1869). Ce travail présente une synthèse des données faunistiques de la littérature spécialisée sur les espèces allochtones décapodes identifié dans la faune de Roumanie entre 1951 et 2010: Orconectes limosus (Rafinesque, 1817), Callinectes sapidus Rathbun, 1896, Rhithropanopeus harrisii (Gould, 1841), Eriocheir sinensis H. Milne Edwards, 1853, Hemigrapsus sanguineus (de Haan, 1835), Palaemon macrodactylus Rathbun, 1902, Dyspanopeus sayi (Smith, 1869).