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"P. falciparum, salah satu parasit penyebab malaria, melekat pada plasenta dan menyebabkan kehamilan malnutrisi. Dampak buruknya ialah BBLR dan pemrograman janin yang meningkatkan risiko penyakit degeneratif di kemudian hari. Plasenta diduga akan beradaptasi terhadap kondisi malnutrisi dengan meningkatkan jumlah salinan mtDNA. Polimorfisme T16189C dilaporkan berasosiasi dengan jumlah salinan mtDNA, BBLR, dan penyakit degeneratif. Tujuan dari penelitian ini ialah untuk mengetahui asosiasi antara jumlah salinan mtDNA, berat lahir, dan polimorfisme T16189C di Timika, Papua, yang merupakan daerah endemik malaria. Jumlah salinan mtDNA diestimasi dengan metode qRT-PCR, sedangkan polimorfisme T16189C dideteksi dengan metode PCR-RFLP. Hasil analisis pada 52 sampel plasenta terinfeksi P. falciparum menunjukkan indikasi awal peningkatan rasio mtDNA terhadap berat lahir (r = 0,09, p = 0,521). Korelasi mtDNA dengan berat lahir ditemukan lebih kuat pada multigravida (r = 0,235) dibandingkan primigravida (r < 0,001). Diduga adaptasi berupa peningkatan rasio mtDNA dipengaruhi secara antagonis oleh komplikasi infeksi malaria. Frekuensi T16189C ditemukan pada 15 dari 126 sampel (12%). Tidak ditemukan asosiasi antara T16189C dengan berat lahir (p =0,57). Hal tersebut karena pengaruh T16189C tertutupi oleh infeksi malaria dan asupan nutrisi. T16189C ditemukan tidak berasosiasi dengan jumlah salinan mtDNA, namun wild-type T (r = 0,08) terindikasi berkorelasi lebih kuat dengan peningkatan mtDNA dibandingkan varian C (r = 0,01). Diperlukan jumlah sampel yang lebih banyak dan kontrol bebas infeksi malaria untuk studi selanjutnya.

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Malaria parasite, P. falciparum, has the properties to sequester in the placenta, consequently cause malnutrition in pregnancy. It is suggested that the adverse effects are LBW and fetal programming leading to degenerative diseases in later life. It is hypothesized that placenta will adapt with malnutrition by increasing mtDNA copy number. T16189C is associated with mtDNA copy number, LBW, and degenerative diseases. The aim of this study was to elucidate the association between mtDNA copy number, birth weight, and T16189C in Timika, Papua, which enlisted as malaria endemic region. MtDNA copy number was determined using qRT-PCR, while T16189C polymorphism is detected using PCR-RFLP. Analysis of 52 falciparum-infected placenta samples indicated that mtDNA ratio increased proportionally with birth weight (r = 0,09, p = 0,521). Stronger correlation was found in multigravidae as compared to primigravidae, suggesting placental adaptation by increasing mtDNA copy number was influenced antagonistically by malaria infections. T16189C was detected in 15 of 126 samples (12%) but no association was found between T16189C and birth weight (p = 0,57). The presence of confounding factors, such as malaria infection and nutrition supply, might masked the effect of T16189C. The result showed no association between T16189C and mtDNA copy number, even though wild-type T (r = 0,08) showed stronger correlation with mtDNA copy number than variant C (r = 0,01). More samples and uninfected control are needed in futher study."

"Obesitas merupakan kondisi kelebihan lemak dalam tubuh akibat ketidakseimbangan energi. Obesitas dapat terjadi karena kombinasi dari faktor lingkungan dan faktor genetik. Beberapa penelitian menunjukkan bahwa single nucleotide polymorphism SNP rs1421085 gen fat mass and obesity-associated FTO bersosiasi dengan obesitas. Penelitian ini bertujuan untuk menentukan asosiasi alel risiko SNP rs1421085 dengan obesitas pada populasi Bali. Studi dilakukan pada 573 sampel arsip yang berasal dari empat desa, yaitu Desa Legian yang mewakili populasi urban, serta Desa Penglipuran, Nusa Ceningan, dan Pedawa yang mewakili populasi rural. Obesitas dikategorikan berdasarkan indeks massa tubuh IMT dan obesitas sentral berdasarkan lingkar pinggang LP mengikuti klasifikasi WHO dan IDF untuk populasi Asia: IMT ge; 25 kg/m2 baik pada pria dan wanita, LP ge; 90 cm untuk pria dan LP ge; 80 cm untuk wanita. Deteksi alel dilakukan menggunakan metode amplification refractory mutation system polymerase chain reaction ARMS PCR. Analisis asosiasi SNP rs1421085 dengan obesitas dan obesitas sentral dilakukan menggunakan uji regresi logistik ordinal dengan penyesuaian usia dan jenis kelamin. Hasil penelitian menunjukkan bahwa frekuensi alel minor SNP rs1421085 ditemukan sebesar 0,41 serta distribusi genotipe sesuai dengan keseimbangan Hardy-Weinberg p = 0,227. Keberadaan dua alel C pada seorang individu kelompok rural berasosiasi dengan obesitas berdasarkan tiga model genetik, yaitu kodominan koefisien = 1,065, p = 0,008, resesif koefisien = 0,812, p = 0,016, dan aditif koefisien = 0,527, p = 0,010.

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Obesity is a condition of excess fat in the body due to energy imbalance. Obesity can occur due to a combination of environmental factors and genetic factors. Several studies have shown that single nucleotide polymorphism SNP rs1421085 of fat mass and obesity associated FTO gene is associated with obesity. This study was conducted to determine the association of SNP rs1421085 risk allele with obesity in Balinese population.

The study was conducted on 573 archive samples from four villages Legian village representing urban population, and Penglipuran, Nusa Ceningan, and Pedawa villages representing rural population. Obesity was categorized based on body mass index BMI and central obesity based on waist circumference WC following WHO and IDF standard for Asian populations BMI ge 25 kg m2 both in male and female, WC ge 90 cm for male and WC ge 80 cm for female.

Allele detection was performed using amplification refractory mutation system polymerase chain reaction ARMS PCR method. Association analysis of SNP rs1421085 with obesity and central obesity was performed with ordinal logistic regression test with adjustments for age and gender.

The minor allele frequency of SNP rs1421085 was 0.41 and the genotype distribution corresponded to Hardy Weinberg equilibrium p 0.227. The existence of two C alleles in an individual of Balinese rural population was associated with obesity based on codominant genetic model coefficient 1.065, p 0.008, recessive genetic model coefficient 0.812, p 0.016, and additive genetic model coefficient 0.527, p 0.010."

"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)."

"Infeksi malaria saat kehamilan telah dilaporkan berasosiasi dengan peningkatan risiko lahirnya bayi berat badan lahir rendah (BBLR, berat badan lahir < 2500 g) di negara-negara endemis malaria, termasuk di Timika, Papua, Indonesia. Infeksi Plasmodium falciparum (P. falciparum) mengakibatkan penumpukkan eritrosit terinfeksi di plasenta, sehingga berkontribusi pada gangguan fungsi plasenta dan terhambatnya petumbuhan janin. Penelitian bertujuan untuk mengetahui pola ekspresi transkrip mRNA yang terlibat dalam aksis insulin-like growth factor (IGF) dan persinyalan leptin yang berperan dalam mengatur fungsi plasenta selama kehamilan. Plasenta ibu hamil terinfeksi malaria falciparum yang melahirkan bayi tunggal sebanyak 55 sampel digunakan untuk isolasi RNA total. RNA hasil isolasi kemudian ditranskripsi balik menjadi complementary DNA (cDNA) dengan reverse transcription polymerase chain reaction (RT PCR), kemudian diukur ekspresinya dengan quantitative real-time PCR (qPCR). Ekspresi IGF-I (r = 0,232, p = 0,089) dan reseptor leptin isoform pendek (OBRa) (r = 0,215, p = 0,115) pada plasenta cenderung berkorelasi positif terhadap skor-z berat badan lahir. Ekspresi OBRa juga berkorelasi negatif secara terhadap umur kehamilan ( = -0,294, p = 0,029). Sedangkan, ekspresi IGFBP-1 cenderung berkorelasi negatif terhadap berat plasenta (r = -0,237, p = 0,081). Ekspresi leptin dan reseptor leptin isoform panjang (OBRb) plasenta menunjukkan korelasi yang lemah terhadap berat badan lahir, skor-z berat badan lahir, berat plasenta, maupun umur kehamilan. Faktor berat plasenta dan ekspresi OBRa menunjukkan kontribusi yang nyata terhadap skor-z berat badan lahir dibandingkan variabel lainnya. Keterkaitan antara ekspresi komponen aksis IGF-I dan persinyalan leptin pada plasenta dari kehamilan terinfeksi malaria menunjukkan respon plasenta terhadap kondisi intrauterin yang merugikan akibat infeksi malaria.

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Malaria infection during pregnancy has been reported to be associated with an increased risk for delivering low birth weight (LBW, birth weight < 2500 g) infants in malaria-endemic area, including in Timika, Papua, Indonesia. Plasmodium falciparum (P. falciparum) infection leads to placental sequestration of infected erythrocytes, causing impaired placental function and altered fetal growth. This study was aimed to investigate the expression pattern of mRNA transcripts involved in insulin-like growth factor (IGF) axis and leptin signaling which play a role in modulating placental function during pregnancy. A total of 55 placenta samples collected from falciparum malaria-infected mothers who delivered singleton infant were employed for total RNA isolation. The isolated RNA was reverse transcribed into complementary DNA (cDNA) using reverse transcription polymerase chain reaction (RT PCR), followed by measurement of gene expression using quantitative real-time PCR (qPCR). Placental expressions of IGF-I (r = 0,232, p = 0,089) and long isoform of leptin receptor (OBRa) (r = 0,215, p = 0,115) were tend to be positively correlated with birth weight z-score. The expression of OBRa was also negatively correlated with gestational age ( = - 0,294, p = 0,029). Meanwhile, the expression of IGFBP-1 showed a tendency to be negatively correlated with placental weight (r = -0,237, p = 0,081). Placental leptin and long isoform of leptin receptor (OBRb) expressions showed weak correlations with birth weight, placental weight, and gestational age. Placental weight and OBRa expression represent a significant contribution to determination of birth weight z-score as compared to the others variables. Correlation between placental expression of IGF axis and leptin signaling in malaria-infected pregnancies might reflect placental response to adverse intrauterine condition due to malaria infection."

"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."