Iranian Journal of Diabetes and Lipid Disorders
مجله دیابت و متابولیسم ایران
ijdld
Medical Sciences
http://ijdld.tums.ac.ir
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admin
2345-4008
2345-4016
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fa
jalali
1404
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gregorian
2025
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fulltext
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بررسی فراوانی آللی ژن NUDT15 در یگ گروه از جمعیت ایرانی
Investigation of NUDT15 Allele Frequency in a Group of Iranian Population
تخصصي
Special
پژوهشي
Research
<span style="direction:rtl"><span style="unicode-bidi:embed"><span lang="fa" style="font-size:11.0pt"><span style="font-weight:bold"><span b="" lotus="" style="font-family:">مقدمه: </span></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">فارماکوژنومیکس (</span></span><span lang="en-US" style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">PGx</span></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">) به مطالعۀ ارتباط بین تغییرات ژنتیکی و پاسخهای دارویی میپردازد. مطالعۀ مقطعی حاضر با هدف بررسی فراوانی آللی واریانت ژنتیکی شایع در ژن </span></span><span lang="en-US" style="font-size:10.0pt"><span style="font-style:italic"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">NUDT15</span></span></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:"> در جامعۀ ایرانی انجام شد.</span></span></span></span><br>
<span style="direction:rtl"><span b="" lotus="" style="font-family:"><span style="unicode-bidi:embed"><span style="font-size:11.0pt"><span style="font-weight:bold">روشها: </span></span><span style="font-size:12.0pt">در مجموع 1142 نمونۀ فرد سالم ایرانی با استفاده از روش میکرواری تعیین ژنوتیپ شدند.</span></span></span></span><br>
<span style="direction:rtl"><span b="" lotus="" style="font-family:"><span style="unicode-bidi:embed"><span lang="ar-SA" style="font-size:11.0pt"><span style="font-weight:bold">یافتهها: </span></span><span lang="fa" style="font-size:12.0pt">19 نفر: واریانت مورد مطالعه با فراوانی آلل جزئی بالاتر از 1 درصد در میان جمعیت مورد مطالعه حاضر شناسایی شد که ممکن است تنوع قابلتوجه در فنوتیپهای پاسخ دارویی در میان جمعیتهای مختلف را توضیح دهد.</span></span></span></span><br>
<span style="direction:rtl"><span style="unicode-bidi:embed"><span lang="ar-SA" style="font-size:11.0pt"><span style="font-weight:bold"><span b="" lotus="" style="font-family:">نتیجهگیری: </span></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">نتایج مطالعه نشان داد که تنوع ژنتیکی قابل توجهی در ژن </span></span><span lang="en-US" style="font-size:10.0pt"><span style="font-style:italic"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">NUDT15</span></span></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:"> در بین جمعیت</span></span><span lang="fa" style="font-size:12.0pt"><span style="font-family:Cambria"></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">های ایرانی وجود دارد که می</span></span><span lang="fa" style="font-size:12.0pt"><span style="font-family:Cambria"></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">تواند بهطور قابل توجهی بر تصمیم</span></span><span lang="fa" style="font-size:12.0pt"><span style="font-family:Cambria"></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">گیری</span></span><span lang="fa" style="font-size:12.0pt"><span style="font-family:Cambria"></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:">های بالینی تأثیر بگذارد. این مطالعه الگوی فراوانی واریانت مؤثر در تعیین فنوتیپ ژن </span></span><span lang="en-US" style="font-size:10.0pt"><span style="font-style:italic"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">NUDT15</span></span></span></span><span lang="fa" style="font-size:12.0pt"><span b="" lotus="" style="font-family:"> در جمعیت ایران را نشان داد.</span></span></span></span><br>
<span style="font-size:11.0pt"><span style="direction:rtl"><span style="font-family:Calibri"><span style="unicode-bidi:embed"> </span></span></span></span><br>
<span style="font-size:10.0pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span lang="en-US" style="font-weight:bold"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">Background:</span></span></span><span lang="en-US" new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed"> Pharmacogenomics (PGx), as a growing field of personalized medicine, aims to optimize the efficacy and safety of medications by studying the association between germline genetic variations and drug responses. The present cross-sectional study aims to evaluate the allele frequency of the </span></span><span lang="en-US" style="font-style:italic"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">NUDT15</span></span></span> <span lang="en-US" new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">genetic variant in the Iranian population to provide insights into personalized treatment decisions in the Iranian population.</span></span></span></span></span><br>
<span style="font-size:10.0pt"><span style="direction:rtl"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed"><span lang="en-US" style="font-weight:bold"><span style="unicode-bidi:embed">Methods: </span></span><span lang="en-US" style="unicode-bidi:embed">A representative sample set of 1142 unrelated healthy Iranian individuals aged 18 and older genotyped using the Infinium Global Screening Array-24 BeadChip.</span></span></span></span></span><br>
<span style="font-size:10.0pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span lang="en-US" style="font-weight:bold"><span bold="" new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">Results: </span></span></span><span lang="en-US" new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed">We identified a pharmacogenetic variant with minor allele frequency (MAF) ≥1% among the present studied population which may explain the substantial variability in drug response phenotypes among different populations</span></span></span></span></span><br>
<span style="font-size:10.0pt"><span style="direction:rtl"><span new="" roman="" style="font-family:" times=""><span style="unicode-bidi:embed"><span lang="en-US" style="font-weight:bold"><span style="unicode-bidi:embed">Conclusion</span></span><span lang="en-US" style="unicode-bidi:embed">: The results of our study revealed significant genetic variation among Iranian populations that could significantly influence clinical decision-making. This study shows the frequency pattern of the effective variant of </span><span lang="en-US" style="font-style:italic"><span style="unicode-bidi:embed">NUDT15</span></span><span lang="en-US" style="unicode-bidi:embed"> in determining the phenotype in Iranian population.</span></span></span></span></span><br>
پزشکی فرد محور, فارماکوژنومیک, فارماکوژنتیک, واریانت ژنتیکی, فراوانی آللی
Personalized Medicine, Precision Medicine, Pharmacogenomics, Pharmacogenetics, Genetic Variation, Allele Frequency, Iran
163
170
http://ijdld.tums.ac.ir/browse.php?a_code=A-10-1425-5&slc_lang=fa&sid=1
Negar
Sarhangi
نگار
سرهنگی