مجله علوم پزشکی پارس

بررسی ارتباط پلی‌مورفیسم rs587777844 در ژن KISS1R با ناباروری در جمعیتی از زنان استان گیلان

نویسندگان

دانشگاه گیلان

چکیده

گیرنده­یKISSPEPTIN، به عنوان یک GPCR، انتقال دهنده­ی بسیاری از پیام­های خارج سلولی به داخل سلول است و بنابراین نقش کلیدی در تنظیم فعالیت و فیزیولوژی سلول دارد. ژن KISS1R در ناحیه­ی کروموزومی   19p13.3 قرار دارد. عدم عملکرد آن مسئول طیف وسیعی از بیماری­ها از جمله ناباروری و سرطان است. یکی از علت­های بالقوه مهم در ناباروری جهش­ در ژن KISS1R می­باشد. چون KISS1R در مسیر هیپوتالاموس- هیپوفیز- غددجنسی نقش مهمی دارد و منجر به تنظیم تولیدمثل و بلوغ در مهره­داران می­شود. هدف این مطالعه، بررسی ارتباط پلی­مورفیسمrs587777844  ژنKISS1R  که منجر به جایگزینی اسیدآمینه تیروزین   با   هیستیدین  در موقعیت 313 پروتئین گیرنده می­شود  با ناباروری در زنان استان گیلان بود. در این پژوهش نمونه خون از 40 زن نابارور (گروه بیمار) و 40 زن سالم (گروه کنترل) گرفته شد.  DNAژنومی از خون این افراد استخراج گردید. قطعات پلی­مورفیسمی مورد نظر تحت واکنش زنجیره­ای پلیمراز اختصاصی الل (AS-PCR) قرار گرفت. در نهایت آنالیز داده­ها با استفاده از نرم­افزار Medcalc (v 13.0)  انجام گرفت. نتایج به­دست آمده نشان می­دهد که ارتباط معنی داری در توزیع ژنوتیپی (03/0=P < /span>) و همچنین در توزیع آللی (0113/0=P < /span>) بین افراد بیمار و کنترل وجود دارد. به طور کلی، نتایج به دست آمده از این پژوهش پیشنهاد می­کند که در جمعیت مورد بررسی، احتمال همراهی  پلی­مورفیسم کدون 313 ژن KISS1R  به عنوان یک عامل خطر منجر با ناباروری در زنان نشان میدهد.

کلیدواژه‌ها

عنوان مقاله [English]

Studying the association of rs587777844 KISS1R gene polymorphism with infertility in a woman population from Guilan province

نویسندگان [English]

  • Zakieh Siahpoosh
  • Hamidreza Vaziri
  • Hossein Roohi

چکیده [English]

The KISS1-derived peptide receptor (KISS1R), as a G protein-coupled receptor (GPCR), transduces a wide variety of extracellular signals into the cell and therefore has a key role in regulating cell function and physiology. KISS1R gene is located on chromosome 19p13.3 and its dysfunction is responsible for wide ranges of diseases including cancer and infertility. Infertility is an inability to conceive after at least one year of unprotected sexual intercourses. It is a multifactorial disorder which affected by male and female factors. Mutations in the KISS1R gene is one of the most important potential causes of infertility. KISS1R has an important role in regulating the Hypothalamic-Pituitary-Gonadal (HPG) axis that leads to regulate reproduction and maturation in vertebrates. The aim of this study was to evaluate the association of Tyr313His (rs587777844) polymorphism of KISS1R gene with female infertility in Guilan province. At first, the blood samples were obtained from 40 infertile women as cases and 40 healthy women as controls. Genomic DNA was extracted from peripheral blood leukocytes and allele specific PCR (AS-PCR) method was applied for determination of codon variation. Statistical analysis using Medcalc software (v 13.0) showed significant differences in genotype frequencies between healthy and patient groups (P-Value = 0.009). The distribution of allele frequencies between two groups also showed significant differences (P-Value = 0.0113). In conclusion, our study suggests that Tyr313His polymorphism of KISS1R gene may be considered as a risk factor for female infertility.

کلیدواژه‌ها [English]

  • infertility
  • KISS1R gene
  • Polymorphism
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مجله علوم پزشکی پارس
دوره 15، شماره 1 - شماره پیاپی 39
فروردین 1396
صفحه 16-22