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Abstrak :
Latar belakang: Polimorfisme genetik dari reseptor P2Y12 dikatakan dapat mempengaruhi aktivasi reseptor P2Y12 atau menghambat aktivasi trombosit. Beberapa polimorfisme nukleotida tunggal dalam gen P2Y12 ditemukan dapat menyebabkan variabilitas antarindividu dalam agregasi platelet. Telah diidentifikasi lima polimorfisme dari gen P2Y12 yaitu T744C, C34T, G52T, ins801A, dan C139T. Salah satunya, polimorfisme C34T adalah salah satu dari polimorfisme yang dikatakan ada kaitannya dengan peningkatan agregasi platelet yang dapat menunjukkan kemungkinan untuk terjadinya modifikasi respon terapi clopidogrel. Namun hingga saat ini belum ada penelitian yang menilai hubungan langsung antara polimorfisme reseptor P2Y12 dengan TIMI-flow beserta faktor-faktor yang mempengaruhinya, termasuk fungsi penghambatan platelet pada pasien IMA-EST yang menjalani IKPP. Tujuan: Penelitian ini bertujuan untuk mengetahui hubungan antara polimorfisme nukleotida tunggal pada reseptor P2Y12 dengan TIMI flow beserta faktor-faktor yang mempengaruhinya, termasuk penghambatan fungsi platelet. Metode: Studi potong lintang pada 167 pasien IMA-EST yang menjalani IKPP. dilakukan pemeriksaan polimorfisme C34T reseptor P2Y12 dengan metode Taqman dan pemeriksaan fungsi penghambatan platelet yang diukur dengan VerifyNow P2Y12. Hasil: Dari 167 subjek penelitian, studi polimorfisme mengungkapkan proporsi pasien dengan heterozygous mutan sebanyak 34.1%, dan 1.8% pasien merupakan homozygous mutan. Sisanya adalah homozygous wildtype ditemukan sebanyak 64.1%. 25.7% pasien tergolong non-responder terhadap clopidogrel. Secara keseluruhan tidak terdapat hubungan secara langsung antara polimorfisme C34T dengan TIMI flow < 3, namun terdapat hubungan antara polimorfisme C34T dengan penurunan fungsi penghambatan platelet (OR 2.17, p = 0.046). Kesimpulan: Tidak terdapat hubungan secara langsung antara polimorfisme C34T dengan TIMI flow, namun pasien dengan polimorfisme C34T pada reseptor P2Y12 memiliki risiko untuk mengalami penurunan penghambatan fungsi platelet. ......Background: Genetic polymorphism of P2Y12 receptors is said to have affect of P2Y12 receptor activation or inhibit platelet activation. Several single nucleotide polymorphisms in the P2Y12 gene were found to cause variability between individuals in platelet aggregation. Five polymorphisms have been identified from the P2Y12 gene, namely T744C, C34T, G52T, ins801A, and C139T. One of them, C34T is one of the polymorphisms that is said to be related to increased platelet aggregation which can indicate the possibility for modification of the response of clopidogrel therapy. But until now there has been no research that assesses the direct relationship between P2Y12 receptor polymorphisms and TIMI-flow along with the factors that influence it, including the function of platelet inhibition in STEMI patients undergoing PPCI Objective: This study aims to determine the relationship between single nucleotide polymorphisms at P2Y12 receptors with TIMI flow along with the faktors that influenced it, including inhibition of platelet function. Methods: A cross-sectional study of 167 STEMI patients who underwent PPCI. C34T polymorphism of P2Y12 receptor was evaluated by the Taqman method and the inhibition of platelet function was measured by VerifyNow P2Y12. Results: Among 167 subjects, the heterozygous mutants group were 34.1%, and 1.8% of patients were homozygous mutants. The rest 64.1% was homozygous wildtype. 25.7% of patients were classified as non-responders to clopidogrel. Overall there was no direct relationship between C34T polymorphisms and TIMI flow <3, but there was a relationship between C34T polymorphisms and decreased platelet inhibitory function (OR 2.17, p = 0.046). Conclusion: There is no direct relationship between C34T polymorphisms and TIMI flow, but patients with C34T polymorphisms of P2Y12 receptors have a risk of decreasing platelet function inhibition.

Abstrak :
Respon wanita usia reproduksi bervariasi terhadap stimulasi FSH eksogen. Salah satu penyebab variasi tersebut adalah perbedaan genotip akibat adanya polimorfisme pada ekson 10 gen reseptor FSH. Untuk mengetahui lebih lanjut apakah daerah promotor inti gen reseptor FSH juga polimorfik dan apakah polimorfisme tersebut mempengaruhi aktivitas promotor, dilakukan skrining polimorfisme promotor gen reseptor FSH pada 262 wanita yang mengikuti program IVF/ICSI, diikuti uji fungsional untuk mengetahui pengaruh polimorfisme terhadap aktivitas promotor. Hasil penelitian menunjukkan bahwa daerah promotor inti gen reseptor FSH polimorfik. Ditemukan lima SNPs pada posisi –29, –37, –114, –123 dan –138 di samping ditemukannya variasi jumlah basa adenin. Polimorfisme pada posisi –123 menurunkan aktivitas promotor secara bermakna, sebaliknya polimorfisme pada posisi –37 dan –138 meningkatkan aktivitas promotor secara bermakna, sedangkan polimorfisme pada posisi –29, –114 dan pemendekan basa adenin tidak mempengaruhi aktivitas promotor secara bermakna. Perbedaan aktivitas promotor akibat polimorfisme ini pada akhirnya sangat memungkinkan merubah sensitivitas ovarium terhadap FSH. (Med J Indones 2004; 13: 205-14)

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Women of reproductive ages are varies in their responses to exogenous FSH stimulations. The difference of FSHR genotype due to the polymorphisms in exon 10 is one of its significant factors. To know further whether the core promoter of FSHR is also polymorphic and to know whether those polymorphisms influence the promoter activity, we did polymorphism screening of FSHR promoter to 262 women undergoing IVF/ICSI, followed by functional study to know the impact of polymorphisms to the promoter activity. This study indicated that the core promoter of human FSHR is polymorphic. We found five SNPs at positions –29, –37, –114, –123 and –138 in addition to the variety number of adenines. Polymorphism at position –123 significantly decreased the promoter activity, in contrast, polymorphism at position –37 and –138 significantly increased the promoter activity, whereas polymorphism at position –29, –114 and short adenines stretch did not significantly influence the promoter activity. The differences of the promoter activities due to polymorphisms might change the ovarian sensitivity to FSH. (Med J Indones 2004; 13: 205-14)

Abstrak :
Dalam beberapa tahun terakhir, beberapa penelitian telah membuktikan bahwa variasi genetik berkontribusi terhadap kesehatan fisik dan mental manusia serta mempengaruhi hasil terapinya. Sejumlah penelitian juga telah menyelidiki peran Single Nucleotide Polymorphisms (SNP) dalam farmakodinamik dan farmakokinetik kemoterapi seperti fluoropyrimidine, meskipun implementasi hasil yang diperoleh masih sederhana. Pada akhir tahun 2019, WHO menemukan kasus pneumonia baru yang disebabkan oleh Severe Acute Respiratory Syndrome Coronavirus – 2 (SARS-CoV-2), yang kemudian dinyatakan sebagai pandemi coronavirus disease 2019 (COVID-19). Regulasi virus dipengaruhi oleh gen Angiotensin Converting Enzyme (ACE) dan Renin-Angiotensin System (RAS). Tujuan dari penelitian ini adalah untuk melakukan uji coba deteksi SNP menggunakan protokol real-time quantitative Polymerase Chain Reaction (qPCR) dengan rhAmp SNP genotyping system pada rs4343. SNP rs4343 terletak di ekson 17 gen ACE dengan alel G dan A. Sampel darah diperoleh dari penyintas COVID-19 dan DNA genom diekstraksi dari sampel darah. Penelitian ini menggunakan fragmen gen gBlocks™ sebagai kontrol positif dan campuran qPCR terdiri dari rhAmp Master Mix, rhAmp Reporter Mix, dan rhAmp rs4343 assay. Hasil disajikan dalam bentuk plot allelic discrimination dan memberikan hasil yang kurang memuaskan untuk deteksi rs4343. Hanya 27 sampel terdeteksi memiliki alel G homozigot dari 50 sampel yang diuji dimana 23 sampel lainnya tidak berhasil dideteksi. ......In recent years, several studies have shown that genetic variation contributes to both the physical and mental health of humans and affects the outcome of therapy. A number of studies have also been carried out on the role of Single Nucleotide Polymorphisms (SNP) in the pharmacodynamics and pharmacokinetics of chemotherapy such as fluoropyrimidines, although the implementation of the results obtained is yet simple. At the end of 2019, WHO found a new case of pneumonia caused by Severe Acute Respiratory Syndrome Coronavirus – 2 (SARS-CoV-2), which was later declared a pandemic coronavirus disease 2019 (COVID-19). The regulation of the virus was influenced by the Angiotensin Converting Enzyme (ACE) and Renin-Angiotensin System (RAS) genes. The aim of this study was to carry out a SNP detection trial employing a protocol of a real-time quantitative Polymerase Chain Reaction (qPCR) performing rhAmp SNP genotyping assay on rs4343. SNP rs4343 is located in exon 17 of the ACE gene with alleles G and A. Blood samples were obtained from COVID-19 survivors and the genomic DNAs were extracted from them. This study used gene fragment gBlocksTM as the positive control and the qPCR mix consisted rhAmp Master Mix, rhAmp Reporter Mix, and rhAmp rs4343 assay. The results were presented in the form of allelic discrimination plots and is not satisfied to use the method to detect rs4343.There are only 27 samples were detected to have the homozygous G allele out of 50 samples where the other 23 samples were undetermined.