RESUMO
AIMS: The genetics of folate metabolism is one of the most significant mechanisms influencing fetal growth and may underlie some cases of unexplained recurrent miscarriage. Reduced folate carrier 1, encoded by the SLC19A1 gene, is a transporter of folate. Folate deficiency and elevated levels of homocysteine could be disadvantageous for the female reproductive system health. Thus, the balance between homocysteine and folate status can be used to measure the risk of recurrent pregnancy loss. METHODS: The purpose of this study was to determine the association between -43T>C, 80G>A, and 696C>T polymorphisms of the SLC19A1 gene in 147 women who had unexplained recurrent miscarriage in comparison with 150 healthy women. Amplification refractory mutation system-polymerase chain reaction was used to genotype the molecular polymorphisms of this gene. RESULTS: The results indicated that the -43T>C single nucleotide of the SLC19A1 gene was significantly associated with a risk of recurrent miscarriage in Iranian women (p < 0.05). No significant association was observed for the other two polymorphisms. The haplotype frequency distribution of -43C/80G/696C, -;43C/80G/696T, -43C/80G, and 80G/696T was significantly different in patients than controls, which may represent a novel risk factor for idiopathic recurrent pregnancy loss. CONCLUSIONS: Polymorphisms and haplotypes of the SLC19A1 gene can be considered risk factors for idiopathic recurrent pregnancy loss.
Assuntos
Aborto Habitual/genética , Polimorfismo de Nucleotídeo Único , Proteína Carregadora de Folato Reduzido/genética , Adulto , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Humanos , Irã (Geográfico) , Pessoa de Meia-Idade , Gravidez , Fatores de Risco , Adulto JovemRESUMO
OBJECTIVE: Process of angiogenesis is essential for successful gestation. Disruption in this pathway leads to various undesirable consequences in pregnancy such as recurrent spontaneous abortion (RSA). One of the most important genes involved in angiogenesis is kinase-insert domain-containing receptor (KDR). This study aimed to investigate the associations between two single-nucleotide polymorphisms (SNPs) of KDR gene, 1719A > T and 1192G > A, with idiopathic RSA in south-east Iran. METHODS: A total of 230 women, including 110 women with a history of at least two consecutive spontaneous miscarriages and 120 healthy women were recruited in this study. Genomic DNA was extracted from peripheral blood samples of participants using the Salting out method. The KDR 1719A > T and 1192G > A polymorphisms were genotyped by the standard amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. RESULTS: For the case group, frequencies of 2.73%, 30% and 67.27% were observed for AA, AT and TT genotypes in1719A > T SNP, respectively, and the genotype frequencies for controls were equal to AA = 3.33%, AT = 32.5% and TT = 64.17%. Distribution of genotypes in 1192G > A SNP in the case group was 79.1%, 19.1% and 1.8% for GG, AG and AA, respectively, whereas the corresponding values for the controls were GG = 80%, AG = 20% and AA = 0. No significant difference was found between the case and control groups based on the frequency of KDR gene polymorphisms with the susceptibility to RSA. CONCLUSIONS: There is no association between these two SNPs of KDR gene and the susceptibility to RSA in women from south-east Iran.
Assuntos
Aborto Habitual/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Marcadores Genéticos , Genótipo , Técnicas de Genotipagem , Humanos , Irã (Geográfico) , Razão de Chances , GravidezRESUMO
SYCP3 (Sinaptonemal complex protein 3) plays a critical role in pairing and recombination of homologous chromosomes in meiosis 1. It has been shown that lack of this gene leads to infertility in male and weakened fertility in female mice. In a case-control study, we investigated the SYCP3T657C polymorphism in the genome of 100 Iranian women with recurrent pregnancy losses of unknown causes as well as 100 control samples of normal fertile women having at least one healthy child. The general aim of our study was to determine whether there is a relationship between genetic changes in the SYCP3 gene and recurrent pregnancy loss in human or not. Frequency of the heterozygous genotype and mutated allele C were significantly higher in women with recurrent pregnancy losses (P-value < 0.005). Our findings suggest that the T657C polymorphism of the SYCP3 gene is possibly associated with recurrent pregnancy loss of unknown cause in human.
