fa بررسی ارتباط بین پلی‌مورفیسم‌های rs731236 (Taq1)، rs1544410 (BsmI) و rs2228570 (FokI) ژن رسپتور ویتامین D با بیماری اوتیسم ژنتیک Genetic پژوهشی Original <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:Calibri,sans-serif"><b><span b="" lang="AR-SA" nazanin="" style="font-family:">سابقه و هدف: </span></b><span b="" lang="AR-SA" nazanin="" style="font-family:">اختلال طیف اوتیسم (</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">ASD</span></span><span b="" lang="AR-SA" nazanin="" style="font-family:">)</span> <span b="" lang="AR-SA" nazanin="" style="font-family:">یکی از بیماری</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">های تکاملی سیستم عصبی است که به طور متوسط از هر 150 کودک یک نفر را در سراسر جهان درگیر می</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">کند. هر دو عامل ژنتیک و محیط در بروز این طیف از اختلال‌ها نقش دارند. مطالعه</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">ها نشان داده</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">اند که بین پلی</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">مورفیسم</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">های ژنی گیرنده ویتامین</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">D (VDR) </span></span><span b="" lang="AR-SA" nazanin="" style="font-family:">و اختلال‌های رفتاری مرتبط با تکامل سیستم عصبی</span><span b="" lang="FA" nazanin="" style="font-family:"> از جمله بیماری اوتیسم</span><span b="" lang="AR-SA" nazanin="" style="font-family:"> ارتباط وجود دارد. با این حال با توجه ت</span><span b="" lang="FA" nazanin="" style="font-family:">نوع</span><span b="" lang="AR-SA" nazanin="" style="font-family:"> پلی</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">مورفیسم در جمعیت</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">ها</span><span b="" lang="FA" nazanin="" style="font-family:">،</span><span b="" lang="AR-SA" nazanin="" style="font-family:"> در مطالعه حاضر، هدف ما بررسی ارتباط چندشکلی</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">های ژنی </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">VDR </span></span>&nbsp;<span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">rs731236(Taq1))</span></span><span b="" lang="AR-SA" nazanin="" style="font-family:">، </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">rs1544410 (BsmI)</span></span> <span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">( rs2228570 (FokI)</span></span><span b="" lang="AR-SA" nazanin="" style="font-family:"> با خطر بیماری اوتیسم در جمعیت آذربایجان</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">شرقی است.</span><span lang="AR-SA" style="font-family:"B Nazanin""></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:Calibri,sans-serif"><b><span b="" lang="AR-SA" nazanin="" style="font-family:">روش کار:</span></b> <span b="" lang="AR-SA" nazanin="" style="font-family:">جمعیت بررسی شده در این مطالعه موردی- شاهدی، 50 کودک بیمار مبتلا به </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">ASD</span></span><span b="" nazanin="" style="font-family:"> و50 کودک کنترل سالم بودند که به دنبال واکنش زنجیره</span><span b="" lang="FA" nazanin="" style="font-family:">‌</span><span b="" lang="AR-SA" nazanin="" style="font-family:">ای پلیمراز روی </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">DNA</span></span><span b="" lang="AR-SA" nazanin="" style="font-family:"> استخراج شده</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">PCR ) </span></span>&nbsp;<span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">&nbsp;(</span></span><span b="" lang="AR-SA" nazanin="" style="font-family:">از خون محیطی و سپس</span> <span b="" lang="FA" nazanin="" style="font-family:">هضم آنزیمی (</span> <span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">RFLP</span></span><span b="" lang="AR-SA" nazanin="" style="font-family:">) </span><span b="" lang="FA" nazanin="" style="font-family:">با استفاده از نرم</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">‌</span></span><span b="" lang="FA" nazanin="" style="font-family:">افزار</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">SPSS16 </span></span>&nbsp;<span b="" lang="AR-SA" nazanin="" style="font-family:">از لحاظ توزیع ژنوتیپی و آللی مطالعه شدند.</span><span dir="LTR" style="font-size:10.0pt"><span style="font-family:"Times New Roman",serif"></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:Calibri,sans-serif"><b><span b="" lang="AR-SA" nazanin="" style="font-family:">یافته</span></b><b><span dir="LTR" style="font-size:10.0pt">‌</span></b><b><span b="" lang="AR-SA" nazanin="" style="font-family:">ها:</span></b> <span b="" lang="FA" nazanin="" style="font-family:">نتایج مطالعه‌های آماری توزیع ژنوتیپی و آللی برای انواع </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">FokI</span></span><span b="" nazanin="" style="font-family:"> و </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">BMSI</span></span><span b="" nazanin="" style="font-family:"> ژن </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">VDR</span></span><span b="" nazanin="" style="font-family:"> بین بیماران مبتلا به اوتیسم و شاهد تفاوت معناداری نشان نداد (05/0</span><span lang="FA" new="" roman="" style="font-family:" times="">˃</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""> (p </span></span><span b="" lang="FA" nazanin="" style="font-family:">، با این حال، از نظر توزیع ژنوتیپی</span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">TT</span></span><span b="" lang="FA" nazanin="" style="font-family:"> (045/0</span><span dir="LTR" style="font-size:10.0pt"><span style="font-family:Symbol"><</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""> (p</span></span><span b="" nazanin="" style="font-family:"> و </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">tt</span></span><span b="" lang="FA" nazanin="" style="font-family:"> (013/0 </span><span dir="LTR" style="font-size:10.0pt"><span style="font-family:Symbol"><</span></span> <span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">&nbsp;(p</span></span><span b="" lang="FA" nazanin="" style="font-family:"> در دو گروه بیمار و شاهد تفاوت معنادار مشاهده شد.</span><span dir="LTR" style="font-size:10.0pt"><span style="font-family:"Times New Roman",serif"></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:Calibri,sans-serif"><b><span b="" lang="AR-SA" nazanin="" style="font-family:">نتیجه</span></b><b><span dir="LTR" style="font-size:10.0pt">‌</span></b><b><span b="" lang="AR-SA" nazanin="" style="font-family:">گیری</span></b><span b="" lang="AR-SA" nazanin="" style="font-family:">: </span><span b="" lang="FA" nazanin="" style="font-family:">این نتایج، شواهد اولیه را نشان می</span><span dir="LTR" style="font-size:10.0pt">‌</span><span b="" lang="FA" nazanin="" style="font-family:">دهد که تغییرهای ژنتیکی ژن </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">VDR (TaqI) </span></span><span b="" lang="FA" nazanin="" style="font-family:">&nbsp;ممکن است استعداد ابتلای کودکان را به </span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">ASD</span></span><span b="" nazanin="" style="font-family:"> تغییر دهد.</span></span></span></span></span></span> <span style="font-size:11pt"><span style="line-height:115%"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">Background and Aim:</span></span></span></b> <span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">Autism Spectrum Disorders (ASD) is a developmental disease of the nervous system that affects an average of 1 in 150 children worldwide. Both genetic and environmental factors play a role in the development of this range of disorders. Several studies have shown an association between vitamin D receptor (VDR) gene polymorphisms and behavioral disorders associated with nervous system, including autism. In the present study, we aimed to investigate the association between VDR gene polymorphisms rs731236 (Taq1), rs1544410 (BsmI), rs2228570 (FokI) and the risk of autism. However, due to polymorphism diversities in population, we investigated the association between VDR rs731236 (Taq1)), rs1544410 (BsmI) (rs2228570 (FokI)) gene polymorphisms and the risk of autism in the population of East Azerbaijan.</span></span></span><span style="font-size:10.0pt"><span style="background:white"><span style="line-height:115%"><span style="font-family:"Times New Roman",serif"></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:115%"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:10.0pt"><span style="background:white"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">Methods:</span></span></span></span></b> <span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">In the present case control study, a total of 50 patients with ASD and 50 healthy control children were studied following the polymerase chain reaction on DNA extracted from peripheral blood and then enzymatic digestion with RFLP technique in terms of genotypic and allelic distribution studies using SPSS 16.</span></span></span><span style="font-size:10.0pt"><span style="background:white"><span style="line-height:115%"><span style="font-family:"Times New Roman",serif"></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:115%"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:10.0pt"><span style="background:white"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">Results:</span></span></span></span></b> <span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">The results of statistical analysis of genotypic and allelic distribution for FokI and BMSI types of VDR gene did not show a significant difference between patients with autism and control group (p˃0.05). But Allelic and genotypic distribution of TT</span></span></span><span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times=""> (p</span></span></span><span style="font-size:10.0pt"><span style="line-height:115%"><span style="font-family:Symbol"><</span></span></span><span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">0.045)</span></span></span> <span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">and tt (p</span></span></span><span style="font-size:10.0pt"><span style="line-height:115%"><span style="font-family:Symbol"><</span></span></span><span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">0.013) genotypes between case and control groups showed a significant difference.</span></span></span><span style="font-size:10.0pt"><span style="background:white"><span style="line-height:115%"><span style="font-family:"Times New Roman",serif"></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:115%"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">Conclusion:</span></span></span></b> <span style="font-size:10.0pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times="">The results provide early evidence that genetic alterations in the VDR (TaqI) gene may alter children&#39;s susceptibility to ASD.</span></span></span><span style="font-size:10.0pt"><span style="line-height:115%"><span style="font-family:"Times New Roman",serif"></span></span></span></span></span></span> پلی‌مورفیسم, رسپتور ویتامین, اوتیسم, rs731236(Taq1), rs1544410 (BsmI),rs2228570 (FokI) polymorphism, vitamin receptor, autism, rs731236 (Taq1), rs1544410 (BsmI) and rs2228570 (FokI) 50 56 http://pejouhesh.sbmu.ac.ir/browse.php?a_code=A-10-3809-1&slc_lang=fa&sid=1 Shadi Shiva شادی شیوا 100319475328460026828 100319475328460026828 No Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. مرکز تحقیقات سلامت کودکان، دانشگاه علوم پزشکی تبریز، تبریز، ایران Hossein Dehghani حسین دهقانی 100319475328460026829 100319475328460026829 No Department of Molecular Medicine, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran. گروه پزشکی ملکولی، دانشکده پزشکی، دانشگاه علوم پزشکی بیرجند، بیرجند، ایران. Jalal Gharesouran جلال قره سوران 100319475328460026830 100319475328460026830 No Department of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran گروه ژنتیک پزشکی، دانشکده پزشکی، دانشگاه علوم پزشکی تبریز، تبریز، ایران. Maryam Rezazadeh مریم رضازاده Rezazadeh.mary@gmail.com 100319475328460026831 100319475328460026831 Yes Molecular Medicine Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. مرکز تحقیقات پزشکی ملکولی، دانشگاه علوم پزشکی تبریز، تبریز، ایران.