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To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in male infertility, we genotyped the FAS -670A/G, -1377G/A, and FASLG -124A/G single-nucleotide polymorphisms (SNPs) by real-time polymerase chain reaction in 108 infertile men with idiopathic azoospermia and in 125 proven fertile controls. The distribution of genotypes and alleles for SNPs at FAS -1377G/A and FASLG -124A/G loci were determined not to be statistically different between the case and control groups. However, the genotype frequencies of SNPs, FAS -670AA and FAS -670AG, were found to be significantly different between the case and control groups. Whereas the FAS -670AA genotype might be regarded as a higher predisposition for idiopathic azoospermia, FAS -670AG could be interpreted to mean that this genotype provides protection against idiopathic azoospermia. The study of combined genotype and haplotype frequencies has found statistically significant differences between case and control subjects for some combinations. The AA-GG binary genotype for the FAS670 and FAS1377 loci couple, in particular, may have a high degree of predisposition to idiopathic azoospermia. Our results suggest that FAS -670A/G SNP may be a genetic predisposing factor of idiopathic azoospermia among southeastern Anatolian men. Larger studies are needed to verify these findings. Furthermore, our data indicated a possible linkage between the FAS and FASLG genes and idiopathic azoospermia.

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent complex psychiatric disorders in children as well as adults. ADHD impacts not only the affected individuals but also their families and social and professional networks. The clinical and diagnostic criteria for ADHD remain imprecise, in part, due to lack of robust biomarkers. ADHD comprises multiple subsets of diseases that present a shared set of downstream clinical findings, while displaying extensive molecular heterogeneity. This calls for innovation in diagnostic strategies that can help establish an ADHD diagnosis unequivocally as well as guiding precision medicine in this common mental health disorder. No study has examined, to the best of our knowledge, the upstream regulation of miRNAs that impact the downstream final ADHD phenotype. The latter focus on putative genetic biomarkers that regulate the regulators and can be tested empirically, for example, through genetic association analyses of the biogenesis pathways for miRNAs that impact the ADHD phenotype. Hence, we report here polymorphic variation in 10 miRNA biogenesis pathway candidate genes, including RNASEN, DGCR8, XPO5, RAN, DICER1, TARBP2, AGO1, AGO2, GEMIN3, and GEMIN4, in a large sample from the Eastern Mediterranean region (N = 355; 191 cases and 164 controls). We found that AGO1 rs595961 was significantly associated with ADHD susceptibility (p < 0.05). While polymorphic variation in other miRNA biogenesis pathway genes did not display a significant association in the present sample, the observations reported herein on miRNA biogenesis variation offer a new avenue of research for innovation in biomarker discovery concerning ADHD and other complex psychiatric diseases with major global health burden.

Background: Social isolation (SI) early in life produces behavioral and cognitive abnormalities. On the contrary, environmental enrichment (EE) offers beneficial effects on brain plasticity and development. This study was designed to examine how EE affects memory functions, anxiety level, and the expression levels of memory/anxiety-related genes such as NR2A, NR2B, BDNF, and cFos in the hippocampus of socially isolated rats.Materials and Methods: Wistar albino male rats (n = 40) were separated into the five groups: Standard cage (SC), SI, EE, SI + SC, and SI + EE group. For each group, eight rats were housed, either grouped or isolated, in a standard or 3-week EE, respectively. Morris water maze test (MWMT) was used for measuring the learning and memory function. Elevated plus maze (EPM) and open field (OF) were used for the evaluation of anxiety behavior. Blood corticosterone level was evaluated by the ELISA method. The expression levels of genes were measured by the RT-PCR method.Results: Results showed that EE increased memory performance in the SI group (p < 0.05). SI caused anxiety while EE improved anxiety behavior (p < 0.05). There was no significant difference between the groups in the OF test. Corticosterone levels did not change between groups. BDNF expression level was downregulated in EE and SI + SC compared with the SC group (respectively; p = 0.012; p = 0.011). NR2A, NR2B, and cFos expression levels did not change between groups significantly.Conclusions: SI impaired memory performance while EE has beneficial effects on memory in socially isolated rats. EE alone was insufficient to cause alterations in the memory performance. The therapeutic effects of EE became strengthened while applied together with stress protocol. Together with improving the effectiveness of memory function, EE has the potential to decrease anxiety behavior. EE seemed to be the reason for decreasing in BDNF.

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The aim of this study was to investigate the role of Fas cell surface death receptor (FAS) and FAS ligand genes (FASLG) polymorphisms in the etiology of recurrent miscarriage. Materials and Methods: In a case-control study, genomic DNA was obtained from 70 patients and 70 healthy controls. Detected with real time PCR, genotype distributions and allelic frequencies of polymorphisms of FAS-670 A>G, FAS-1377 G>A, FASLG-124 A>G genes were compared between the groups. Results: In this study, FASLG-124 A>G polymorphisms were associated with an increased risk of recurrent miscarriage whereas FAS −670 A>G and-1377 G>A genotypes conferred no risk. For the FASLG −124 A>G polymorphisms, the likelihood of disease in patients with A allele was 3.94 times higher than those without A allele. Conclusion: Our findings suggest that the-124 A>G polymorphism in the FASLG gene related with apoptosis may contribute to susceptibility to recurrent miscarriage in the Turkish women. Amaç: Bu çalışmada apoptotik uyarıcı Fas hücre yüzey ölüm reseptörü (FAS) ve FAS ligandı genleri (FASLG) polimorfizmlerinin tekrarlayan gebelik kaybı (TGK) etiyolojisindeki yeri araştırıldı. Gereç ve Yöntem: Bu vaka-kontrol çalışmasında, TGK tanısı almış 70 kadın ve kontrol grubu olarak 70 kadından genomik DNA izole edildi. Her iki gruptaki FAS-670 A>G, FAS-1377 G>A ile FASLG-124 A>G polimorfizmlerinin genomik dağılımı ve allel frekansları real-time PCR yöntemi ile belirlenerek karşılaştırıldı. Bulgular: Çalışmamızda, FASLG-124 A>G polimorfizmi için TGK ve kontrol gruplarının genotip frekans farkının istatistiksel olarak anlamlı olduğu saptandı. Ancak FAS −670 A>G ve FAS-1377 G>A genotipleri ile TGK arasında istatistiksel düzeyde anlamlı bir ilişki saptanmadı. FASLG −124 A>G polimorfizmi için A allelini taşıyanlarda hastalığın görülme olasılığı A allelini taşımayanlara göre 3,94 kat daha yüksek bulundu. Sonuç: Bulgularımız, apoptozla ilişkili FASLG-124 A>G polimorfizminin TGK oluşumuna katkısı olabileceğini düşündürmektedir.

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