Genetic and epigenetic analysis of the BAX and BCL2 in the placenta of pregnant women complicated by preeclampsia.

The current study examined the effects of BAX and BCL2 polymorphisms and methylation as well as mRNA expression on susceptibility to PE. After delivery, the placentas were collected from 92 women with PE, as well as 106 normotensive pregnant women. The BAX rs4645878 and BCL2 rs2279115 polymorphisms were genotyped by the PCR-RFLP method. Methylation-specific PCR (MSP) was used for analysis of promoter methylation. mRNA expression was assayed by Quantitative RT-PCR. In addition, in silico analysis was performed by bioinformatics tools. There was no relationship between PE and placental BAX rs4645878 and BCL2 rs2279115 polymorphisms. The groups were not significantly different regarding the promoter methylation of BAX gene. Nonetheless, the MM status of BCL2 promoter had a significantly higher frequency in the PE group and was associated with 2.7-fold higher risk of PE (OR = 2.7, 95% CI = 1.3-5.6; P = 0.01). The relative mRNA expression of BCL2 was decreased in the placentas of PE women (P < 0.0001). The expression of BAX gene was not significantly different between the two groups. There was no association between placental BAX rs4645878 and BCL2 rs2279115 polymorphisms and mRNA expression levels. In silico analysis indicated that BAX rs4645878 and BCL2 rs2279115 polymorphisms were located in the core recognition site of different transcription factors and these substitutions of wild allele resulted in the loss and/ or change of these binding sites and subsequently may alter BCL2 and BAX expression. This study showed that the BAX and BCL2 polymorphisms and BAX promoter methylation were not associated with PE risk. The BCL2 promoter methylation was associated with lower BCL2 expression and higher PE susceptibility.

Study of MYOC Gene Mutation in POAG Patients in Zahedan, Iran.

BACKGROUND: The second cause of blindness in the world is glaucoma that begins with visual impairments and, in many cases, ends with irreversible visual loss. Primary open-angle glaucoma (POAG) is the most common type of glaucoma, which causes irreversible optic nerve damage in adults. Glaucoma shows an unknown etiology, but there is strong evidence regarding the role of genetic factors in disease establishment. For determination of the role of MYOC gene mutations in the development of POAG in Zahedan, Iran, screening of this gene was performed. METHODS: Forty-five POAG patients were recruited from Noor Pajoohan Shargh clinic and Al-Zahra Eye Hospital, Zahedan University of Medical Sciences, Zahedan, Iran. Three exons of the MYOC gene were amplified in five amplicons, using polymerase chain reaction (PCR). Then PCR products were sequenced using the ABI big dye ABI Prism 3700 instrument in forward and reverse directions with the same primers. RESULTS: Five variations were found in POAG patients: two known variations (rs2075648 and rs2234926) in exon 1, one in exon 2 (rs58117216), and two variants (rs74315330 and rs146606638) in exon 3. They were not all associated with the disease status and are known as normal variants. However, there was a mutation in exon 3 (Gln297 His or CM081349) only in one patient which is known as the disease causing mutation in some populations [1]. CONCLUSIONS: Since most of POAG patients had no mutation in the MYOC gene, other genes might have been involved in the pathogenesis of the disease.