Personalized and Precision Medicine Journal

Abstract The miRNAs produced predominantly in the placenta are probably involved in placental differentiation and maintenance of pregnancy. One of the important functions of miR-126 is its involvement in angiogenesis by enhancing the expression of VEGF. Abnormalities of placental vasculature may result in several gestational complications, including pregnancy loss. The current study compared the expression of miR-126 in the plasma of women with recurrent miscarriages and women with healthy pregnancies by Realtime qRT-PCR. The results indicated that the expression difference of miR-21 between the pregnant patients and the controls was statistically significant (p =0.002). This microRNA can be used as a biomarker in diagnosis and progression.

Abstract Although several techniques have been developed for the detection of JAK2 V617F mutation, these techniques have their disadvantages. High-resolution melting (HRM) analysis is a new, post-PCR analysis. Simple and fast, this method is based on PCR melting curve techniques. This study examined the JAK2 V617F mutation by the high-resolution melting method in 20 patients with erythrocytosis, and the results were compared with those obtained from the direct sequencing method. The results showed 100% sensitivity and 100% positive predictive value for this methodology in the patient sample set tested.

Abstract HCV is a blood pathogen that affects approximately 180 million people worldwide. It has the ability to escape its host’s defense mechanism and is considered a resistant species. Toll-like receptors (TLRs) are a family of evolutionary receptors that have been identified by the diagnosis of pathogens as the main regulators of innate and acquired immune responses. Studies have shown that genetic changes in the TLR3 gene are associated with high susceptibility or resistance to immune and infectious diseases. In this study, the effects of the TLR3 gene single nucleotide polymorphism rs78726532 on susceptibility to HCV infections were examined. The association between this polymorphism and the risk of hepatitis C in 50 patients and 50 healthy subjects was investigated. The results revealed a significant relationship between polymorphism rs78726532 and hepatitis C infection (p = 0.002). Thus, it could have a therapeutic and predictive potential.

Abstract Numerous studies have been conducted to investigate the relationship between genetic factors and drug use tendency, many of which have shown a significant correlation between genetic factors and drug use, especially heroin and cocaine. The most important site of drug action is the brain, which contains a variety of nerve receptors. Dynorphins are opioid peptides derived from the prodynorphins precursor (PDYN). These opioid peptides are capable of binding to the three types of opioid receptors. Studies have shown that heroin and cocaine use is associated with increased PDYN gene expression in specific areas of the brain. In this study, we investigated the association between rs910080 polymorphism in the 3'UTR region and the number of VNTR sequences in the promoter region with the tendency of heroin use in 155heroin addicts and 150 control with RFLP method. Results showed a significant relationship between heroin abuse and CC genotype in rs910080 polymorphism (P = 0.001), but no significant relationship between VNTR promoter repeats and heroin abuse. Rs910080 polymorphism can be used as a distinguishing factor.

Abstract Methylenetetrahydrofolate reductase (MTHFR) has a critical role in spermatogenesis process and altered expression level of this gene may leads to male infertility. In the present study, the assocaitions of gene expression and promoter methylation of MTHFR with risk of oligozoospermia was assessed. Sperm DNA and RNA were extracted from 20 oligozoospermia men and 20 controls consisting of healthy fertile men. Following the modification of DNAs by sodium bisulfite treatment, the methylation status of the MTHFR gene promoter was quantified by methyl specific PCR. MTHFR expression evaluated by Quantitative PCR, or real-time PCR, (qPCR). Our data revealed a significant association of CpG island promoter methylation and MTHFR expression with risk of oligospermia (P = 0.031). The prevalence of methylation in promoter region of MTHFR can be a useful molecular biomarker to predict the predisposition of male infertility.

Abstract Multiple sclerosis (MS) is an autoimmune neurodegenerative disorder. The etiology of MS is not clear but genetic and epigenetic factors are involved in MS development. Studies have shown that IL7R gene polymorphisms is capable of changing MS susceptibility. We investigated the association of MS with rs11567658, rs11567686 promoter polymorphisms of IL7R gene in western provinces of Iran. In the present study, 187 MS patients and 190 healthy control were evaluated. Polymorphic regions of IL7R promoter were amplified by appropriated primers and polymorphisms were then evaluated by RFLP method followed by validation via Sanger sequencing. Results shown rs11567685 and rs11567686 are significantly associationed with MS (P = 0.017 P = 0.046), significant association of these polymorphism with age was also found (P = 0.002). This study showed that IL7 receptor gene polymorphism has a key role in MS development and may be important opportunity for development of therapeutic and diagnostic strategies in context of personalized medicine.