en تخصصي Association study پژوهشي Research <div style="text-align: justify;"></div> <div> <table align="left" hspace="0" vspace="0"> <tbody> <tr> <td style="padding: 0in 12px; text-align: justify;" valign="top"><span style="font-family:Tahoma;"><span style="font-size:14px;"><span style="line-height:115%"><b><span style="line-height:115%">Background: &nbsp;</span></b><span style="line-height:115%">22q11.2 deletion is a common microdeletion, and about 30% of patients with 22q11.2 deletion develop schizophrenia. PRODH is one of the genes located in 22q11.2 and encodes the proline oxidase enzyme (POX) in the mitochondrial inner membrane and is expressed in the skin, liver, kidney, and brain. PRODH gene&#39;s polymorphisms in increasing the risk of getting afflicted with schizophrenia have been demonstrated in previous Linkage and Association studies. The proline dehydrogenase enzyme (POX) &#39;s role is catalyzing proline&#39;s conversion into glutamate. Reduced enzyme leads to increased proline and decreased glutamate and resulting in hyperprolinemia. It has been proven that P19Q mutation in PRODH declines pox enzyme activity and is associated with schizophrenia disorder. </span></span><br> <span style="line-height:115%"><b><span style="line-height:115%">Objectives</span></b><span style="line-height:115%">: In the current study, rs2008720 variant in PRODH gene was genotyped in 100 schizophrenic patients whose diseases were confirmed by experts and in 100 healthy people without any history of schizophrenia and bipolar disorder in their pedigree. </span></span><br> <span style="line-height:115%"><b><span style="line-height:115%">Methods</span></b><span style="line-height:115%">: To identify the variant, PCR-RFLP technique has been adopted. The association of mutant and normal variants between the two groups afflicted with the disease and non-afflicted with the disease has been analyzed by SPSS 16 software. </span></span><br> <span style="line-height:115%"><b><span style="line-height:115%">Results</span></b><span style="line-height:115%">: According to our results, we found no association between P19Q missense mutation and schizophrenia disorder in Iranian patients. So the P19Q missense mutation could not be considered co-related with the increasing risk of schizophrenia in Iranian patients. </span></span></span></span></td> </tr> </tbody> </table> </div> <div style="text-align: justify;"><br> <span style="font-family:Tahoma;"><span style="font-size:14px;">&nbsp;</span></span></div> Schizophrenia, Single Nucleotide Polymorphism, Proline Dehydrogenase 0 0 http://humangeneticsgenomics.ir/browse.php?a_code=A-10-353-1&slc_lang=en&sid=1 Mohammad Amin Azimifar aminazimifar@gmail.com 1003194753284600371 1003194753284600371 No Department of Cell Molecular Biology, Bushehr Branch, Islamic Azad University, Iran Maryam Hashemi Dr.mhashemi2022@gmail.com 1003194753284600372 1003194753284600372 Yes Nanotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran Nahid Babaei nahid.babaei@yahoo.com 1003194753284600373 1003194753284600373 No Department of Cell Molecular Biology, Bushehr Branch, Islamic Azad University, Iran Zahra Salmasi salmasiz@mums.ac.ir 1003194753284600374 1003194753284600374 No Nanotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran Abbas Doosti abbasdoosti@iaushk.ac.ir 1003194753284600375 1003194753284600375 No Biotechnology Research Center, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran