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"Sindrom metabolik merupakan sekumpulan faktor risiko yang meningkatkan peluang kemunculan penyakit kardiovaskular.  Sindrom tersebut muncul akibat interaksi faktor lingkungan dan faktor genetik. Beberapa penelitian menemukan bahwa single nucleotide polymorphisms (SNPs) pada gen Transcription Factor 7-Like 2 (TCF7L2) merupakan variasi yang paling berpengaruh terhadap kemunculan sindrom metabolik. Namun, studi pada SNP rs290487 dan rs290481 belum banyak dilakukan. Penelitian ini bertujuan untuk mengetahui asosiasi alel risiko rs290487 dan rs290481 dengan sindrom metabolik pada populasi Bali. Studi ini menggunakan 565 sampel (321 sampel laki-laki dan 244 sampel perempuan) yang berasal dari empat desa di Provinsi Bali. Keberadaan SNP dideteksi menggunakan teknik amplification refractory mutation system polymerase chain reaction (ARMS PCR) dengan primer yang telah didesain khusus. Analisis asosiasi SNP rs290487 dan rs290481 dilakukan menggunakan uji regresi logistik ordinal. Hasil analisis menunjukkan MAF (alel T) SNP rs290487 dan rs290481 masing-masing sebesar 0,56 dan 0,53. Alel C pada masing-masing SNP merupakan alel risiko bagi peningkatan kadar gula darah puasa (GDP) dan kemunculan sindrom metabolik pada sampel perempuan di populasi Bali. Selain itu, analisis haplotype yang dilakukan menemukan bahwa haplotype TTT dari rs290487, rs290481, dan rs7903146, berasosiasi dengan peningkatan TG (p = 0,011) dan kemunculan sindrom metabolik (p = 0,003)

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Metabolic syndrome (MetS) is a cluster of risk factors that raises risk of cardiovascular disease. MetS can occur due to an interaction between environmental and genetic factors. Several studies have shown that single nucleotide polymorphisms (SNPs) of Transcription Factor 7-Like 2 (TCF7L2) gene are significantly associated with MetS. Nevertheless, studies on SNP rs290487 and rs290481 have not yet been explored widely. This study aimed to investigate the association of rs290487 and rs290481 risk alleles with MetS in Balinese population. A total of 565 archive samples (321 males and 244 females) from four villages in Bali province were included in this study. All subjects were genotyped using amplification refractory mutation system polymerase chain reaction (ARMS PCR) method with specifically designed primers. Association between rs290487 and rs290481 with MetS were analyzed using ordinal logistic regression test. The results showed that MAF of rs290487 and rs290481 are 0,56 and 0,53, respectively. C-allele of both SNPs were risk alleles for elevated fasting plasma glucose (FPG) level and development of MetS in Balinese women. Furthermore, haplotype TTT of rs290487, rs290481, and rs7903146, were significantly associated with elevated TG level (p = 0,011) and development of MetS (p = 0,003)."

"Kanker payudara (KPD) merupakan kanker dengan jumlah insidensi dan mortalitas tertinggi pada wanita di dunia dan Indonesia pada tahun 2020. Usaha pencarian biomarka tambahan dilakukan untuk membantu deteksi dini dan evaluasi prognosis. Sebelumnya, jumlah salinan DNA Mitokondria (mtDNA-CN) dan panjang relatif telomer (RTL) dari darah perifer ditemukan berasosiasi dengan peningkatan risiko KPD. Keduanya dapat dipengaruhi oleh perubahan sistemik, seperti stres oksidatif. Penelitian ini bertujuan untuk menganalisis asosiasi mtDNA-CN dan RTL dengan KPD di Indonesia. Penelitian kasus-kontrol ini melibatkan 209 subjek kontrol dan 197 subjek kasus yang berasal dari rumah sakit di 5 daerah di Indonesia (Jakarta, Semarang, Pekanbaru, Makassar, Kupang). Teknik qPCR digunakan untuk mengamplifikasi gen referensi (B2M), mtDNA (MT-TL1), dan telomer. Rasio mtDNA-CN dan RTL dihitung berdasarkan hasil perbandingan terhadap B2M. Asosiasi mtDNA-CN dan RTL dengan risiko dan prognosis KPD dianalisis menggunakan uji regresi. Hasil penelitian menunjukkan bahwa mtDNA-CN berasosiasi positif dengan RTL (p<0,025). MtDNA-CN yang lebih banyak dan RTL yang lebih panjang, serta kombinasi ‘tinggi-tinggi’ dari keduanya ditemukan berasosiasi signifikan dengan peningkatan risiko KPD pada kelompok usia <48 tahun (p<0,025). Selain itu, mtDNA-CN dan RTL berasosiasi signifikan dengan beberapa karakteristik klinis patologis KPD. MtDNA-CN dan RTL berpotensi digunakan sebagai biomarka risiko dan prognosis KPD.

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In 2020, breast cancer has been the leading cause of cancer incidence and mortality among women globally, including in Indonesia. Additional biomarkers discovery were required for early detection and prognostic evaluation. Previously, the peripheral blood mitochondrial DNA copy number (mtDNA-CN) and relative telomere length (RTL) had been associated with elevated breast cancer risk. Both markers might be influenced by the change in systemic condition, such as oxidative stress. We aimed to investigate the associations between mtDNA-CN and RTL with breast cancer in Indonesia. A total of 209 controls and 197 cases from several hospitals in 5 locations in Indonesia (Jakarta, Semarang, Pekanbaru, Makassar, Kupang) were enrolled. The reference gene (B2M), mtDNA (MT-TL1), and telomeres were amplified using qPCR method. The mtDNA-CN and RTL ratio were calculated by comparing them to B2M and the associations were analyzed using regression test. The results showed a significant positive association between mtDNA-CN and RTL (p<0,025). Higher mtDNA-CN, higher RTL, and a ‘high-high’ combination were significantly associated with elevated breast cancer risk in group with age <48 (p<0,025). Both markers were also associated with several clinicopathological features. Therefore, mtDNA-CN and RTL might potentially be used as biomarkers for breast cancer risk and prognosis."