Women with PCOS have, depending on age and severity of disease, problems with psychological gender identification. Duration and severity of PCOS can negatively affect the self-image of patients, lead to a disturbed identification with the female-gender scheme and, associated with it, social roles.

This study aimed to find the potential association between HSPA1B polymorphisms and risk of paranoid schizophrenia, clinical variables of the disease, and suicidal behavior. A total of 901 unrelated Polish subjects of Caucasian origin (377 schizophrenia patients and 524 controls) were recruited. Four single-nucleotide polymorphisms (SNP) were genotyped using PCR-RFLP (rs539689, rs9281590) and TaqMan assays (rs263979, rs6547452). A strong tendency towards statistical significance (p = 0.051) was observed in rs539689 allele distribution between patients and controls in overall study subjects. After stratification according to gender, we found that rs539689 was significantly associated with schizophrenia in males, but not in females. The minor allele C had a protective effect in males [OR 0.73 (95% CI 0.61-0.88, p < 0.05)]. In addition, two SNPs (rs539689, rs9281590) were significantly associated with PANSS scores. Another important finding was a strong significant association between the HSPA1B rs539689 polymorphism and attempted suicide in schizophrenic patients. The C/C genotype and C allele were protective against suicidal behavior in entire sample (p < 0.001), in males (p < 001), and in females (p < 0.05), although associations were weaker than in males. Our findings support that HSPA1B gene may be involved in susceptibility to schizophrenia and clinical presentation of the disease in a sex-dependent manner, and may play a role in suicidal behavior in the Polish population of schizophrenic patients. Further independent analyses in different populations should be performed to clarify the role of HSPA1B in the pathogenesis of schizophrenia.

Background: Excitatory amino acid transporter 2 encoded by SLC1A2 is responsible for approximately 90% of glutamate uptake. Glycine transporter 1, encoded by SLC6A9 , is responsible for maintaining a low concentration of the N-methyl-D-aspartate receptor (NMDAR) co-agonist – glycine in the synaptic cleft, suggesting its participation in the development of the NMDARs hypofunction described in schizophrenia. Aim: The aim of this study was to evaluate whether the functional polymorphism-181 A/C (rs4354668) of the SLC1A2 and the rs2486001 (IVS3+411 G/A) in the SLC6A9 are involved in schizophrenia development and its clinical picture in the Polish population. Methods: The study group consisted of 393 unrelated Caucasian patients (157 [39.9%] females and 236 [60.1%] males; mean age 41±12) diagnosed with schizophrenia according to the DSM-5, and 462 healthy controls. The results of the Positive and Negative Syndrome Scale (PANSS) were presented in the five-dimensional model. Polymorphisms of SLC1A2 and SLC6A9 were genotyped with the use of PCR-RFLP assay. Results: There were no statistically significant differences in the frequency of genotypes and alleles between the patients and controls for SLC1A2 and SLC6A9 polymorphisms in either the entire sample or after stratification according to gender. In the haplotype analysis, men with CA haplotype had more than 1.5 higher risk to develop schizophrenia than women (OR=1.63 [95% CI=1.17–2.27, p <0.05]). The influence of gender, genotypes of both analyzed polymorphisms and gender x genotype interactions on individual dimensions of the PANSS scale has not been observed. Also, there was no association of either polymorphism with suicide attempts. Conclusion: The results of the present study did not indicate an association of polymorphism-181 A/C (rs4354668) in SLC1A2 and rs2486001 in SLC6A9 with onset of schizophrenia and its psychopathology in a Polish population.

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Aim Many data showed a role of inflammation and dysfunction of immune system as important factors in the risk of schizophrenia. The TNFR2 receptor is a molecule that adapts to both areas. Tumor necrosis factor receptor 2 (TNFR2) is a receptor for the TNF-α cytokine which is a strong candidate gene for schizophrenia. The serum level of TNFR2 was significantly increased in schizophrenia and associated with more severe symptoms of schizophrenia. Methods We examined the association of the three single nucleotide polymorphisms (rs3397, rs1061622, and rs1061624) in TNFR2 gene with a predisposition to and psychopathology of paranoid schizophrenia in Caucasian population. The psychopathology was measured by a five-factor model of the PANSS scale. We also assessed a haplotype analysis with the -308G/A of TNF-α gene. Results Our case-control study (401 patients and 657 controls) revealed that the genetic variants of rs3397, rs1061622, and rs1061624 in the TNFR2 gene are associated with a higher risk of developing schizophrenia and more severe course in men. However, the genotypes with polymorphic allele for rs3397 SNP are protective for women. The rs1061624 SNP might modulate the appearance of the disease in relatives of people with schizophrenia. The CTGG haplotype build with tested SNPs of TNFR2 and SNP -308G/A of TNF-α has an association with a risk of schizophrenia in Caucasian population depending on sex. Our finding is especially true for the paranoid subtypes of schizophrenia.