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Intrauterine fetal death (IUFD) is a multifactorial disorder and one of the most severe obstetrical complications. Our primary aim was to study the possible associations between polymorphic variants of the PEMT gene and IUFD in the Polish population.The case-control study involved 76 mothers with IUFD occurrence and 215 mothers of healthy children. Genetic analysis of the four single nucleotide polymorphisms in the PEMT gene (rs4646406, rs4244593, rs897453 and rs12325817) was performed with the PCR/RFLP method.Three oef the analyzed PEMT polymorphisms (rs4646406, rs4244593, and rs8974) were significantly associated with IUFD in the Polish population. Among them, PEMT variant rs4244593 was associated with increased risk of IUFD in three genetic inheritance models. Results were statistically significant even after applying Bonferroni correction for multiple comparisons (p 0.0125). The distribution of all haplotypes except TAGC was not different between cases and controls, however, after applying permutation test, none of the haplotypes showed a relation with IUFD.The present findings indicate that PEMT polymorphisms may be associated with the susceptibility to IUFD in the Polish population.

Objective The aim of the study was assessment of a possible relationship between the polymorphisms of the candidate genes participating in the etiology of some neurological and psychiatric disorders and the risk of depression in perimenopausal and postmenopausal women. Methods A total of 167 (54 perimenopausal and 113 postmenopausal) Caucasian women from western Poland, aged 42–67, were recruited as the patient group in the study because of depressive symptoms, and another 321 healthy women (102 perimenopausal and 219 postmenopausal) served as the controls. All study participants were evaluated for climacteric and depressive disorders according to the Kupperman index and Hamilton rating scale for depression (HRSD), respectively. The following candidate genes were selected for the study: 5HTR2A, 5HTR1B, 5HTR2C, TPH1, TPH2, MAOA, COMT, NET, GABRB1, ESR1, MTHFR, MTR and MTHFD1. In each group the frequencies of the polymorphisms were determined using PCR-RFLP analysis. Results After correcting for Bonferroni multiple tests, we found associations between the MAOA c.1460C > T (SNP 1137070), COMT c.472G > A (SNP 4680), MTHFR c.677C > T (SNP 1801133) and ESR1 454−351 A > G (SNP 9340799) polymorphisms to mild and moderate depressive symptoms in menopausal women. In the perimenopausal and postmenopausal women, genotype association of the MAOA c.1460 CT and c.1460 CT + TT (OR = 1.83; pcorr = 0.009 and OR = 1.85; pcorr = 0.003, resp.), and of the MTHFR c.677 TT and c.677 CT + TT (OR = 3.52; pcorr = 0.00009 and OR = 2.06; pcorr = 0.0006, resp.), as well as of the COMT c.472 GA and COMT c.472 GA + AA genotypes (OR = 2.23; pcorr = 0.03 and OR = 2.17; pcorr = 0.027, resp.) in the postmenopausal women revealed significantly higher frequencies of these variants in depressed female patients than in controls, whereas the ESR1 454−351 AG and 454−351 AG + GG genotypes were associated with lower risk of depression in postmenopausal women (OR = 0.48; pcorr = 0.012, and OR = 0.52; pcorr = 0.015, resp.). Conclusions Our study substantiates the involvement of the MAOA and MTHFR polymorphisms in climacteric depression and offers evidence that the COMT and ESR1 genes may also play a role in the susceptibility to depressive mood in postmenopausal women.