WNV is a zoonotic neurotropic flavivirus that has recently emerged globally as a significant cause of viral encephalitis. The last five years, 624 incidents of WNV infection have been reported in Greece. The risk for severe WNV disease increases among immunosuppressed individuals implying thus the contribution of the MHC locus to the control of WNV infection. In order to investigate a possible association of MHC class II genes, especially HLA-DPA1, HLA-DQA1, HLA-DRB1, we examined 105 WNV patients, including 68 cases with neuroinvasive disease and 37 cases with mild clinical phenotype, collected during the period from 2010 to2013, and 100 control individuals selected form the Greek population. Typing was performed for exon 2 for all three genes. DQA1*01:01 was considered to be "protective" against WNV infection (25.4% vs 40.1%, P = 0.004) while DQA1*01:02 was associated with increased susceptibility (48.0% vs 32.1%, P = 0.003). Protection against neuroinvasion was associated with the presence of DRB1*11:02 (4.99% vs 0.0%, P = 0.018). DRB1*16:02 was also absent from the control cohort (P = 0.016). Three additional population control groups were used in order to validate our results. No statistically significant association with the disease was found for HLA-DPA alleles. The results of the present study provide some evidence that MHC class II is involved in the response to WNV infection, outlining infection "susceptibility" and "CNS-high-risk" candidates. Furthermore, three new alleles were identified while the frequency of all alleles in the study was compared with worldwide data. The characterization of the MHC locus could help to estimate the risk for severe WNV cases in a country.

Background Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they lie within or near lncRNA regions.Objectives The aim of this study was to investigate whether polymorphisms on or near lncRNAs affect interactions with miRNAs and can cause male infertility. Materials and methods In the present study, a GWAS was conducted, using samples from 159 individuals (83 normozoospermic individuals and 76 patients of known fertility issues). Standard procedures for quality controls and association testing were followed, based on case-control testing. Results We detected six lncRNAs (LINC02231, LINC00347, LINC02134, NCRNA00157, LINC02493, Lnc-CASK-1) that are associated with male infertility through their interaction with miRNAs. Furthermore, we identified the genes targeted by those miRNAs and highlighted their functions in spermatogenesis and the fertilization process. Discussion and conclusion lncRNAs are involved in spermatogenesis through their interaction with miRNAs. Thus, their study is very important, and it may contribute to the understanding of the molecular mechanisms underlying male infertility.

Background and Aims Collection of epidemiological data has become a crucial step in every fertility evaluation, especially regarding idiopathic male infertility. Information on data such as tobacco smoking, alcohol intake, and body mass index can provide crucial information regarding the dynamics between fertility status and everyday practices. We aim to set the base for epidemiological studies on male infertility in the Greek population. Methods Four hundred and fourteen Greek volunteers were asked to fill in a questionnaire regarding their characteristics and lifestyle preferences, followed by a seminogram. Depending on their answers, they were divided into groups and data were analyzed for correlation with seminogram parameters using Spearman's rank correlation test. Results Our results indicate that a high body mass index (BMI) is negatively correlated with all three seminogram parameters (number, motility, and morphology) and exposure to radiation or chemicals is negatively correlated with sperm motility, with a p < 0.01. Conclusions These findings indicate negative correlations of BMI and exposure to radiation/chemicals with semen parameters in the Greek population. Such information can be used to plan a diagnostic approach or even therapeutic interventions.

Completion of the first 20 nucleotides of exon 2 of DPA1*03:01 allele.

Study question Are there differentially expressed genes (DEGs), in the testicular tissue of azoospermic males which could uncover tissue specific gene expression signatures, associated with idiopathic azoospermia? Summary answer The current findings link for the first time the pathophysiology of idiopathic azoospermia to the immune system and open a new era for further investigation What is known already Azoospermia is the most severe form of male infertility and affects 10% of the infertile men and 1% of the general male population which equals to several million men all over the world. A causal genetic factor is established in only 25% of the cases while in the remaining 75% there is no diagnosis and is termed idiopathic. Published data demonstrate that in idiopathic azoospermia heterogeneous genetic factors are the underlying cause. Clarifying the genetic basis of azoospermia will immensely improve our current clinical and treatment approaches for patient care at the levels of diagnosis, therapy, treatment, and safety Study design, size, duration During June 2020 and June 2021 testicular samples from 26 consented IVF patients were included in this study. The samples were divided in 7 pools based on the presence of testicular spermatozoa found. In particular, Pools 1-3 included testicular samples with high, average and very low presence of spermatozoa, Pools 4 & 5 samples with no spermatozoa found, and Pools 6-7 included only CF carriers. Pools 6 &7 were used as controls. Participants/materials, setting, methods Total RNA was isolated using the RΝeasy plus universal mini kit (Qiagen) and quantified using a photometer. Next, RNA sequencing was performed by Novogene, using the Illumina NovaSeq platform and the DEGs that were identified were processed using Gene Ontology (GO) functional enrichment analysis, pathway enrichment analysis and protein-protein interaction (PPI) network reconstruction using the Gene Ontology Resource, the KEGG database and the STRING database respectively. Main results and the role of chance In total RNA from up to 39.664 genes was detected and significant differences in gene expression (DEGs, log2fold change≥2, p-value &lt; 0.05) were identified in the 7 pools analyzed. The top 10% of the protein coding DEGs from each comparison was further analyzed. Up to 1.900 protein coding genes were found to be common in at least two comparisons and exhibit consistent expression profiles. In particular, 920 genes were overexpressed in the “good quality” testicular samples (high & average presence of spermatozoa) while 940 genes were overexpressed in the “low quality” testicular samples (rare or no spermatozoa found). GO analysis revealed that the sexual reproduction, male gamete generation spermatogenesis, cilium movement and fertilization biological processes were enriched in the “good quality” testicular pools while the biological processes response to stimulus, response to stress, response to cytokine and defense response were overrepresented in the “low quality” testicular samples. The PPI network of the DEGs was reconstructed and hub proteins with a putative key role in the pathogenesis of azoospermia were identified. Limitations, reasons for caution While transcriptomics analysis is becoming a powerful analysis tool there are still technical limitations which may impact the accurate representation of the DEGs profiles found. The data obtained in this study represent the whole testicular tissue samples analyzed and they are not cell-type specific Wider implications of the findings The findings of this study demonstrate that in the “low quality” testicular samples, there is a significant under-expression of testis-specific genes directly involved in spermatogenesis and fertilization processes, an over-expression of the genes involved in the body’s immune defense system and advance our understanding in the pathophysiology of idiopathic azoospermia. Trial registration number Τ1EDK-02787