other ارتباط پلی‌مورفیسم‌های T824C و T132903C به‌ترتیب در ژن‌های OR2W3 و INSR با ناباروری آیدیوپاتیک مردان ایرانی ژنتیک Genetics مقاله پژوهشی Research Article <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">سابقه و هدف:</span></span></b> <span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">میزان شیوع ناباروری در مردان 10-15 درصد است</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> و </span></span><span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">برای حدود 50 درصد موارد ناباروری مردان نمی‌توان علت خاصی یافت</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">.</span></span> <span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">این</span></span> <span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">نوع ناباروری</span></span><span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> به‌عنوان ناباروری آیدیوپاتیک نامیده می‌شود و </span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">یکی از علل ناباروری آیدیوپاتیک در مردان عوامل ژنتیکی است. هدف این مطالعه بررسی ارتباط حضور دو پلی‌مورفیسمِ ژنی مرتبط با روند اسپرماتوژنز شامل </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T824C</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">OR2W3</span></span></i><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> و </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T132903C</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">INSR</span></span></i><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">، با ناباروری آیدیوپاتیکِ مردان در جمعیتی از مردان نابارور ایرانی</span></span> <span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">بود.</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 calibri="" style="font-family:"><b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">مواد و روش‌ها:</span></span></b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> استخراج </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">DNA</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">، از 200 نمونۀ خون شامل گروه بیمار، 100 مرد دارای اُلیگواسپرمی و آزواسپرمی (نابارورِ آیدیوپاتیک) و 100 نفر گروه کنترل انجام گرفت. ژنوتایپینگ </span></span><span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">دو پلی‌مورفیسم موردمطالعه با استفاده از </span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">روش‌های مولکولی </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">HRM-PCR </span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">، </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">PCR-RFLP</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> و </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">Sequencing</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> انجام گرفت و در نهایت نتایج آنالیز آماری شد.&nbsp;&nbsp; </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 calibri="" style="font-family:"><b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">یافته ها:</span></span></b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> برای حضور پلی‌مورفیسم</span></span> <span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T824C</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">OR2W3</span></span></i><span style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> تفاوت معنی‌دار بین گروه بیماران و گروه کنترل مشاهده نشد (</span></span><span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">2/0</span></span> <span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">=</span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">p </span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">) و نتایج نشان دادند که بین این پلی‌مورفیسم با ناباروری در مردان ایرانی ارتباطی وجود ندارد. به‌علاوه فراوانی </span></span><span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">پلی‌مورفیسم</span></span> <span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T132903C</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">INSR</span></span></i><span style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> دارای تفاوت معنی‌دار بین گروه بیمار و کنترل بود (</span></span><span lang="AR-SA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">02/0 = </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">p</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">) و با ناباروریِ آیدیوپاتیک در جمعیت مردان ایرانیِ موردمطالعه ارتباط معنی‌دار نشان داد.&nbsp; </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 calibri="" style="font-family:"><b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">نتیجه‌گیری</span></span></b><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">: براساس نتایج، حضور پلی‌مورفیسم </span></span><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T132903C</span></span><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:"> در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">INSR</span></span></i><i> </i><span lang="FA" style="font-size:12.0pt"><span b="" nazanin="" style="font-family:">در ایجاد ناباروریِ آیدیوپاتیک در جمعیت مردان ایرانی می‌تواند در اُولیگواسپرمی و آزواسپرمی مردان نابارور ایرانی نقش مؤثر داشته باشد. برای تأیید این نتایج، مطالعات در نمونه‌های بیشتر توصیه می‌گردد.</span></span></span></span></span></span></span><br> &nbsp; <span style="font-size:11pt"><span style="line-height:normal"><span calibri="" style="font-family:"><b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">Aim</span></span></b> <b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">and Background</span></span></b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">: The Frequency of male infertility is 10-15% and there is no definite reason in 50% of infertility in men. This form of infertility is named idiopathic infertility, and genetic factors are one of the causes of male infertility. Therefore, this study aimed to investigate on association between the </span></span><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">T824C polymorphism in the <i>OR2W3</i> gene </span></span><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">and the T132903C</span></span><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""> polymorphism</span></span><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""> in the <i>INSR</i> gene in Iranian idiopathic infertile males.&nbsp; </span></span><span dir="RTL" lang="FA" style="font-size:12.0pt"><span style="font-family:"B Nazanin""></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:107%"><span calibri="" style="font-family:"><b><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">Materials and Methods</span></span></span></b><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">: For this study, DNA was extracted from 200 blood samples, consisting of 100 men with oligospermia and azoospermia</span></span></span> <span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">(idiopathic infertile) and 100 fertile men as a control group. Genotyping of the two studied polymorphisms was performed by using molecular methods, HRM-PCR, PCR-RFLP, and sequencing,</span></span></span> <span lang="EN" style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">and finally, the results were statistically analyzed.</span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span style="font-family:"Times New Roman","serif""></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:107%"><span calibri="" style="font-family:"><b><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">Results:</span></span></span></b><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""> For the </span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">T824C polymorphism in the <i>OR2W3</i> gene, </span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">statistical analysis showed no significant difference between the patient and control groups </span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">(p = 0.2), </span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">and the results showed no association between this polymorphism and idiopathic male infertility in the Iranian population.</span></span></span> <span lang="EN" style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">In addition, the </span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times="">frequency of T132903C</span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""> polymorphism</span></span></span><span style="font-size:10.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""> in the <i>INSR</i> gene was different in infertile patients and control groups (p = 0.02) and indicates a significant relationship with idiopathic male infertility in the studied Iranian men population.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span calibri="" style="font-family:"><b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">Conclusion</span></span></b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">: According to these research results, the T132903C polymorphism in the <i>INSR</i> gene is affected by idiopathic infertility in the Iranian male population and could cause oligospermia and azoospermia in Iranian infertile males. To confirm these results, it is recommended to study more samples.</span></span><span style="font-size:10.0pt"><span style="font-family:"Times New Roman","serif""></span></span></span></span></span><br> &nbsp; ناباروری آیدیوپاتیک مردان, پلی‌مورفیسم ژنی, اُولیگواسپرمی, آزواسپرمی. Idiopathic male infertility, Gene polymorphism, oligospermia, azoospermia, OR2W3, INSR. 19 34 http://ncmbjpiau.ir/browse.php?a_code=A-10-954-28&slc_lang=other&sid=1 Elham Siasi الهام سیاسی emi_biotech2006@yahoo.ca 100319475328460015553 100319475328460015553 Yes . Associate Professor, Department of Genetic, School of science, NT.C., Islamic Azad University, Tehran, Iran. دانشیار، گروه ژنتیک، دانشکده علوم زیستی، واحد تهران شمال، دانشگاه آزاد اسلامی ، تهران، ایران. Ahmad Aleyasin احمد ال یاسین sogand@nigeb.ac.ir 100319475328460015554 100319475328460015554 No .Associate Professor, Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran دانشیار،گروه ژنتیک پزشکی، پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری ،تهران ، ایران. Javad Mowla جواد مولا sjmowla@yahoo.com 100319475328460015555 100319475328460015555 No دانشیار،گروه ژنتیک مولکولی، دانشکده علوم زیستی دانشگاه تربیت مدرس، تهران، ایران