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  • br Ethical approval br All procedures

    2020-08-14


    Ethical approval
    All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/ or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
    Informed consent
    Informed consent was obtained from all individual participants in-cluded in the study.
    Competing financial interests
    The author(s) declare that we have no conflict of interests.
    Acknowledgment
    UGC-MANF is acknowledged for providing the fellowship Zafar Iqbal Bhat.
    Author contributions
    ZIB designed, performed the experiments and wrote the manu-scripts. BK helped in Experimental designing, data analysis and  Gene 682 (2019) 25–32
    manuscript writing, SB and AN helped in Statistical analysis, RRT helped in sample collection, KW helped in the Western blot to check the expression, GDS in supervising the work. MAR conceived the idea, analyzed data, and edited the manuscript.
    References
    PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever.
    PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever.
    Chopra, R., Ali, S., Srivastava, A.K., Aggarwal, S., Kumar, B., Manvati, S., Kalaiarasan, P., Jena, M., Garg, V.K., Bhattacharya, S.N., Bamezai, R.N., 2013. Mapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional var-iants in association with leprosy in unrelated Indian population groups. PLoS Genet. 9, Rituximab e1003578.
    Ye, S., 2000. Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene Rituximab and susceptibility of various diseases. Matrix Biol. 19, 623–629.
    Contents lists available at ScienceDirect
    Gene
    journal homepage: www.elsevier.com/locate/gene
    Research paper
    T
    Sina Ramezania, Alireza Sharafshahb, Laleh Mirzanejada, Mahvash Hadavia,
    a Department of Biology, University of Guilan, Rasht, Iran b Cellular and Molecular Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran
    Keywords:
    Breast cancer
    PARP1
    Background: Breast cancer (BC) is the highest cause of mortality among female cancer patients. In some cases, BC is due to Poly [ADP-ribose] polymerase 1 (PARP1) gene dysregulation, which has been involved in various important cellular processes. Among Iranian women, the association between PARP1 polymorphisms and BC was never studied before so in this case-control study, the genetic association of three SNPs (rs1136410, rs907187 and rs4653734) was analyzed with susceptibility to BC.
    Methods: The study subjects were 386 Iranian females divided into 186 patients and 200 healthy controls. The genotypes of PARP1 variants were detected using ARMS and a combined ARMS-RFLP PCR method.
    Results: The results showed that Carriers of CG and GG genotypes of the variant rs4653734 were at higher risk of BC compared with wild-type carriers (CC) and this variant was statistically significant under a recessive model of inheritance. Moreover, rs907187 was related to increased BC risk in the CC and GG genotypes under dominant and recessive models of inheritance. The G allele frequency of rs4653734 and rs907187 was higher in breast cancer patients than in normal subjects. No association was detected between rs1136410 and susceptibility to BC among studied groups. Furthermore, A-G-C haplotype was linked to an increased BC risk, whereas A-C-C and A-C-G haplotypes were related to a decreased risk of BC. In Silico predictions suggested that rs907187 affects E2F and E2F-4 transcription factors binding site. Conclusions: The current study suggests that rs907187 and rs4653734 have remarkable associations with BC risk among Iranian women.
    1. Introduction
    Breast cancer (BC) is the most common and Lethal type of diagnosed cancer among women (DeSantis et al., 2015). Statistics showed that almost 3 million women suffered from BC in 2015 in the United States (McGuire et al., 2015). Also it had been estimated that 252,710 new cases of invasive BC would be diagnosed among women in 2017 in the United States (https://www.cancer.org/cancer/breast-cancer.html). Among the overall cancer deaths worldwide, almost 60% of deaths occur in developing countries including Iran (Torre et al., 2015). Risk factors correlated with breast cancer in women include genetic sus-ceptibility, unhealthy lifestyles, and other medical conditions (Anothaisintawee et al., 2013; Pharoah et al., 2002).
    DNA repair pathways play important roles in maintaining genomic stability and influence carcinogenesis and tumor biology (Lord and Ashworth, 2012). Poly[ADP-ribose] polymerase (PARP) is not only a