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"ABSTRAKGen CYP2C8 mempunyai beberapa alel mutan yang menyandi enzim CYP2C8 dengan kapasitas metabolisme yang rendah. Enzim CYP2C8 berperanan penting dalam metabolisme antimalaria amodiakuin menjadi metabolit aktifnya desetilamodiakuin sehingga mutasi pada gen CYP2C8 diduga berpotensi menyebabkan kegagalan terapi maupun kejadian efek samping agranulositosis yang dipicu oleh metabolit nonenzimatiknya amodiakuinkuinonimin.Penelitian observasional ini bertujuan untuk mengetahui frekuensi distribusi alel mutan gen CYP2C8 yaitu CYP2C8*2, CYP2C8*3, dan CYP2C8*4 pada salah satu kelompok etnik yang tinggal di daerah endemik malaria, yaitu suku Nias. Analisis PCR-RFLP untuk identifikasi alel gen CYP2C8 yang dilakukan pada 214 sampel berupa tetes darah di kertas saring (dot blot) dan subjek suku Nias memperlihatkan bahwa semua sampel membawa alel normal (wild type). Dengan tidak ditemukannya alel mutan gen CYP2C8 pada suku Nias, kita dapat berharap bahwa kemungkinan kegagalan terapi amodiakuin dan efek samping obat akibat metabolit nonenzimatiknya pada suku Nias tidak berkaitan dengan polimorfisme gen CYP2C8.

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ABSTRACTThe CYP2C8 gene has been documented to have several alleles encoding enzyme with low metabolic capacity. Since CYP2C8 plays a major role in metabolizing antimalarial drug amodiaquine to its active metabolite desethylamodiaquine, it is assumed that mutation in CYP2C8 gene may potentially lead to treatment failure or to occurrence of adverse drug reactions such as agranulocytosis induced by its nonenzymatic metabolite amodiaquinequinoneimine.The aim of this study was to determine the frequency distribution of CYP2C8 mutant alleles particularly CYP2C8*2, CYP2C8*3 and CYP2C8*4 in one of the ethnic group that resides in malaria endemic area, Nias. PCR-RFLP analysis of 214 dot blot samples from Nias ethnic group subjects revealed that all of the samples carried the wild type allele of the CYP2C8 gene. In the absence of mutant alleles of CYP2C8 among Nias ethnic group, one can expect that treatment failure in amodiaquine therapy and adverse drug reactions associated with reactive metabolite of the drug are not related with CYP2C8 genetic polymorphisms."

"STEMI adalah IMA dengan risiko mortalitas tinggi. Risiko dikurangi dengan revaskularisasi berupa IKPP Gangguan kardiovaskular dikaitkan dengan penurunan konsentrasi vitamin D. Penurunan bisa disebabkan SNP gen CYP27B1 yang mengkode enzim 1α hidroksilase dan belum ada penelitian yang menghubungkan konsentrasi vitamin D pada pasien STEMI yang menjalani IKPP. Hasil IKPP berupa area sumbatan dan kemampuan darah mengalir ke pembuluh darah koroner, dikenal dengan TIMI grade 0-3. Penelitian bertujuan untuk menganalisis hubungan konsentrasi kalsidiol dan gen CYP27B1 (-rs10877012) perubahan G ke T pada pasien STEMI yang menjalani IKPP dengan aliran TIMI akhir. Seratus subjek STEMI dan kontrol diambil 3 mL darah. Plasmanya diukur konsentrasi kalsidiol dengan teknik ELISA. PBMC dianalisis gen CYP27B1 (- rs10877012) dengan qRT PCR teknik Taqman Probe. Data dianalisis statistik kemaknaan 0,05. Konsentrasi kalsidiol median kasus 35,94 ng/ml dan kontrol 20,89 ng/ml berbeda bermakna (p=0,0001). Variasi gen CYP27B1 pada kedua kelompok berbeda bermakna (p=0,0001), dengan polimorfisme TT kasus 28% dan kontrol 19%. Hubungan konsentrasi kalsidiol dengan polimorfisme gen CYP27B1 berbeda bermakna (p=0,0001), tidak terdapat hubungan konsentrasi kalsidiol dengan aliran TIMI dan polimorfisme gen CYP27B1 dengan p=0,232. Konsentrasi kalsidiol tinggi pada kasus dimungkinkan sebagai respon tubuh terhadap inflamasi yang mengalami serangan jantung. Polimorfisme TT kasus 28% tidak memiliki hubungan terhadap patofisiologi aliran TIMI akhir.

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STEMI is an AMI with a high risk of mortality. The risk is reduced by revascularization called by IKPP Cardiovascular disorders are associated with decreased vitamin D concentrations. The decrease could be due to the SNP gene CYP27B1 which encodes the enzyme 1α hydroxylase and no studies have linked vitamin D concentrations in STEMI patients undergoing IKPP. IKPP results in the form of block area and the ability of blood to flow to the coronary blood vessels, known as TIMI grade 0-3. The aim of this study was to analyze the relationship between calcidiol concentrations and the CYP27B1 gene (-rs10877012) G to T changes in STEMI undergoing IKPP with TIMI flow. One hundred STEMI and control subjects collected 3 mL of blood. Plasma concentration of calcidiol was measured using the ELISA technique. PBMCs were analyzed CYP27B1 gene (- rs10877012) by taqman probe qRT PCR. Data were analyzed by statistical significance of 0.05. Median calcidiol concentration of 35.94 ng / ml cases and 20.89 ng / ml controls was significantly different (p = 0.0001). CYP27B1 gene variation in the two groups was significantly different (p = 0.0001), with TT polymorphism of 28% and 19% of controls. The correlation between calcidiol concentration and CYP27B1 gene polymorphism was significantly different (p = 0.0001), there was no correlation between calcidiol concentration and TIMI flow and CYP27B1 gene polymorphism with p = 0.232. The high calcidiol concentration in this case may be the body's response to inflammation following a heart attack. The TT polymorphism of 28% cases had no relationship to the pathophysiology of late TIMI flow."

"ABSTRAKLatar Belakang: Nefropati diabetik (ND) merupakan komplikasi mikrovaskular yang berkontribusi terhadap end stage renal disease (ESRD) pada penyandang DMT2. Polimorfisme gen apolipoprotein E (APOE) dihubungkan dengan dislipidemia merupakan faktor risiko untuk timbulnya ND.Tujuan: Mengetahui pengaruh polimorfisme gen APOE terhadap kejadian ND penyandang DMT2 di Palembang dan menganalisis pengaruh polimorfisme gen APOE terhadap perubahan profil lipid penyandang DMT2 dengan ND.Metode: Penelitian kasus kontrol pada penyandang DMT2 di Palembang. Kelompok kasus adalah penyandang DMT2 dengan ND dan kelompok kontrol adalah penyandang DMT2 tanpa ND yang memenuhi kriteria penyertaan.Hasil: Terdapat 37 penyandang DMT2 dengan ND (ACR > 300 mg/g kreatinin) dan 42 tanpa ND (ACR < 30 mg/g kreatinin). Tidak terdapat perbedaan bermakna pada usia, jenis kelamin, lama DM, tinggi badan, tekanan darah sistolik, glukosa darah puasa, HbA1c dan profil lipid. Terdapat perbedaan bermakna pada berat badan, IMT, TD diastolik, hemoglobin, ureum, kreatinin dan eGFR antara kasus dan kontrol. Distribusi genotip tidak berbeda bermakna. Pada kelompok kasus didapatkan peningkatan frekuensi alel gen APOE ε2 dibanding kontrol (62,2 % vs. 37,8 %). Dengan analisis bivariat didapatkan penyandang DMT2 yang mengandung alel gen APOE ε2 2,5 kali lipat dan bermakna (p = 0,023) dibandingkan gen APOE ε3 dalam menyebabkan ND sedangkan alel ε4 0,65 kali lipat dan tidak bermakna (p = 0,37). Profil lipid tidak berbeda bermakna baik pada penyandang DMT2 dengan ND maupun penyandang DMT2 tanpa nefropati.Simpulan: Frekuensi alel gen APOE ε2 lebih tinggi pada penyandang DMT2 dengan ND dibandingkan tanpa ND. Gen APOE ε2 merupakan faktor risiko kejadian ND pada penyandang DMT2. Tidak ada hubungan antara kejadian ND dengan perubahan profil lipid.

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ABSTRACT

Backgrounds. Diabetic nephropathy is microvascular complication, largely contributed to end stage renal disease in T2DM patients. Apolipoprotein E (APOE) genetic polymorphism in association with dyslipidemia have been proposed as one of the risk factors for the development of diabetic nephropathy (DN).

Aim: To examine the effect of apolipoprotein E (APOE) gene polymorphism to DN incidence in patients with T2DM and to analyze the effect of APOE gene polymorphism to lipid profile in DN.

Method. Case control study at Palembang. Case group were T2DM with nephropathy and control group were T2DM without nephropathy.

Results. There were 37 patients with DN (ACR > 300 mg/g creatinine) and 42 patients without nephropathy (ACR < 30 mg/g creatinine). No significant differences in terms of age, sex, duration of DM, height, systolic blood pressure, fasting glucose, HbA1c and lipid profiles between the two groups. There were significant differences in weight, BMI, diastolic blood pressure, hemoglobine, ureum, creatinine and eGFR with p value 0.028, 0.013, 0.017, < 0.001, < 0.001, < 0.003 and < 0.002 respectively. The distribution of APOE genotypes between the two groups are the same. However, there was a significant difference in the allele frequencies, ε2 frequency was significantly higher in case group compared to control group (62.2 % vs. 37.8 %). On bivariate analysis ε2 allele showed 2.50 times to DN risk with p 0.023 while ε4 allele 0.65 times to DN risk. No significant difference in lipid profiles between DN and without nephropathy.

Conclusions. APOE ε2 allele was significantly higher in macroalbuminuria group. These result suggest that ε2 allele may be associated with the development of DN and ε2 allele was risk factor in T2DM patients. There were no correlation between APOE gene polymorphism and lipid profiles."

"Patogenesis nefropati diabetik (ND) merupakan hasil interaksi faktor hemodinamik, metabolik dan lingkungan serta faktor genetik. ND biasanya tidak terdeteksi secara klinis sampai terjadi kerusakan ginjal yang bermakna dapat berupa glomerulosklerosis, tubular atrofi dan fibrosis interstitial. KIM-1 dapat digunakan sebagai penanda adanya kerusakan tubulus ginjal. Hubungan polimorfisme gen ACE dengan nefropati diabetes masih tidak konsisten. Penelitian ini merupakan studi cross sectional komparasi antara dua kelompok penyandang DMT2 dengan atau tanpa nefropati yang bertujuan untuk mengetahui adanya kerusakan tubulus, polimorfisme gen ACE dan menganalisis hubungannya dengan kadar KIM-1 terhadap terjadinya kelainan tubulus. Didapatkan adanya peningkatan ekskresi KIM-1 urin pada 19 subjek pre-nefropati dengan median 1,3 (interquartile 1,5) ng/mL, 25 subjek nefropati insipien dengan median 1,6 (interquartile 2,3) ng/mL dan 12 subjek nefropati overt dengan rerata kadar KIM-1 3,1 ± 2,4 ng/mL. Terdapat polimorfisme gen ACE pada penyandang DMT2. Proporsi genotipe DD 9,3%, ID 33,3% dan II 57,4% pada kelompok NND, pada kelompok ND proporsi genotipe DD 4,7%, ID 34,1% dan genotipe II 61,2%. Dijumpai adanya hubungan bermakna antara alel D dengan peningkatan ekskresi KIM-1 urin pada kelompok pre-nefropati (p = 0,030). Peningkatan kadar KIM-1 urin pada kelompok pre-nefropati menunjukkan adanya kerusakan tubulus yang merupakan proses awal nefropati DM. Distribusi genotipe polimorfisme gen ACE pada penelitian ini menyerupai penelitian lain di negara-negara Asia, sedangkan di negara Eropa genotipe DD lebih banyak daripada genotipe II. Hubungan bermakna alel D dengan kadar KIM-1 hanya pada kelompok prenefropati mungkin disebabkan adanya faktor lain seperti kadar glukosa, kontrol glikemik, ureum, kreatinin dan kadar trigliserida yang memengaruhi. Simpulan: Terdapat peningkatan ekskresi KIM-1 urin pada penyandang DMT2 kelompok pre-nefropati yang meningkat secara bermakna pada penyandang DMT2 dengan nefropati overt. Peningkatan ekskresi KIM-1 urin dapat dipakai sebagai penanda kerusakan tubulus. Terdapat polimofisme gen ACE pada penyandang DMT2. Genotipe II lebih banyak dibanding genotipe ID dan DD. Dijumpai adanya hubungan alel D dengan peningkatan kadar KIM-1 urin pada penyandang DMT2 pre-nefropati.

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The pathogenesis of nephropathy diabetic (ND) is the result of the interaction of haemodynamic, metabolic, environment, and genetic factors. In general, ND was clinically undetectable until kidney has been damaged significantly, in the form of glomerulosclerosis, tubular atrophy, or interstitial fibrosis. KIM-1 can be used as the initial indicator of kidney tubules damage. The relationship between ACE gene polymorphism and diabetic nephropathy was still inconsistent.

This research was a comparative cross-sectional study on two groups of DMT2 patients with and without nephropathy diabetic. The objectives of this study were to identify the tubules damage, ACE gene polymorphism, and to analyze the relationship between the degree of KIM-1 and the tubules damage. The increase of KIM-1 urine excretion was found in 19 pre-nephropathy subject (median = 1.3 with interquartile 1.5 ng/mL), in 25 incipient nephropathy subject (median = 1.6 (2.3) ng/mL), in 12 overt nephropathy subject (Mean = 3.1 ± 2,4 ng/mL). ACE polymorphism gene was found in DMT2 patients. In the NDD group, the genotype proportion of DD = 9.3%, ID = 33.3% and II = 57.4%. Whereas, in the ND group, the figures were 4.7%, 34.1% and 61.2%, respectively.

Significant relationship was found between allele D and the increase of KIM-1 urine on pre-nephropathy group (p = 0.030). The increase of KIM-1 urine on prenephropathy group shows the tubules damage which is the initial process of nephropathy diabetic. The genotype distribution of ACE gene polymorphism in this study was similar with the studies in Asian countries; however, in European countries the genotype DD is found higher than genotype II. The significant relationship between allele D and KIM-1 level in pre-nephropathy group might be the influence of other factors, such as glucose level, glycaemic control, urea, creatinine, and triglyceride level.

Conclusion: There was KIM-1 excretion increased on DMT2 pre-nephropathy group, which increase significantly in DMT2 overt nephropathy group. The increase of KIM-1 urine excretion can be used as the indicator of tubules damage. ACE gene polymorphism was found in DMT2 group, with genotype II was higher than genotype ID and DD. A significant relationship between allele D and the increase of KIM-1 urine excretion was found in pre-nephropathy group."

"Pendahuluan: Gen Interleukin 6 IL-6 merupakan gen yang mengkode protein sitokin yang menjaga homeostasis imun dan memainkan peran penting dalam inflamasi dan patogenesis berbagai penyakit. Dalam beberapa penelitian sebelumnya, polimorfisme pada promoter gen IL-6 dibuktikan memiliki hubungan bermakna dengan risiko terjadinya karsinoma sel skuamosa regio kepala dan leher. Tujuan: Mendeteksi polimorfisme gen IL-6 -174G/C pada penderita karsinoma sel skuamosa populasi Indonesia. Metode: Metode PCR-RFLP dilakukan pada 85 sampel penderita KSSKL dengan enzim restriksi Nla III yang divisualisasi dengan elektroforesis. Hasil: Polimorfisme gen IL-6 -174G/C ditemukan pada sampel yang diteliti sebesar 2.3. Kesimpulan: Polimorfisme genetik interleukin 6 meningkatkan risiko KSSKL di populasi Indonesia.

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Introduction: Interleukin 6 IL 6 gene encodes a cytokine protein which maintains immune homeostasis and plays essential roles in inflammation and diseases rsquo pathogenesis. In previous studies, polymorphism of interleukin 6 gene promoter was found significantly associated with the head and neck squamous cell carcinoma risk.

Objectives: To detect the polymorphism of IL 6 174G C in Indonesian head and neck squamous cell carcinoma HNSCC patients.

Methods: PCR RFLP method was used to analyze 85 samples of HNSCC patients, using Nla III restriction enzyme and the results were visualized by electrophoresis.

Results: IL 6 174G C gene polymorphisms were found in the studied samples 2.3 .

Conclusion: IL 6 174G C gene polymorphisms increased the risk of HNSCC in Indonesian population."

"ABSTRACTAt the department of Biology - University of Indonesia, the use of a modified von Hemel procedure in slide processing often gives incomplete metaphases due to chromosome losses during the processing. This study is to know the percentage of the incomplete metaphases, to test if the chromosome loss is influenced by chromosome size, and how far all of these will give rise to a false diagnosis. The material is a harvest of fixated blood culture from five normal female patients (46,XX). Slides were prepared from the material and "R-band" stained. Then we analyzed and searched for 115 metaphases with only one chromosome loss that could be analyzed. The result shows that 64.19 % out of 1303 metaphases were incomplete, and 9.29 % or 121 metaphases with only one chromosome loss. It is found that each chromosome has different probability of loss which depends on the size of chromosome. The smaller the chromosome, the greater the chance of loss, but all of these do not lead to any false diagnosis. Chromosome Loss During Slide Processing Using a Modified Von Hemel Procedure;Chromosome Loss During Slide Processing Using a Modified Von Hemel Procedure"

"Latar Belakang: Orofacial cleft merupakan salah satu dari banyak malformasi bawaan lahir yang sering terjadi pada manusia. Keadaan ini ditandai dengan kelainan morfologi yang dapat mengubah struktur wajah dan mempengaruhi struktur anatomi, juga fungsi otot dengan tingkat keparahan yang bervariasi. Adapun, penyebab celah bibir dan palatum ini dihasilkan dari banyak faktor, dimana terjadi kombinasi antara faktor genetik dan faktor lingkungan.Tujuan: Mengetahui distribusi polimorfisme gen Wnt10a C392T pada penderita orofacial cleft.Metode: Analisis polimorfisme gen Wnt10a C392T dilakukan dengan metode PCR-RFLP dengan enzim restriksi AfeI.Hasil: Menggunakan 25 sampel orofacial cleft dan 75 sampel kontrol, ditemukan 25 sampel orofacial cleft memiliki genotip TT 100 , 20 sampel kontrol memiliki genotip CC 26,6 , 53 sampel memiliki genotip CT 70,6 , dan 2 sampel memiliki genotip TT 2,8 . Tidak ditemukan alel C pada sampel orofacial cleft, semenatara sampel kontrol memiliki 91 alel C 60,7 dan 59 alel T 39,3.Kesimpulan: Terdapat perbedaan bermakna pada distribusi genotip dan alel polimorfisme Gen Wnt10a C392T antara penderita orofacial cleft dan kontrol p value genotip = 0,003, p value alel =0,001.

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Background: Orofacial cleft is one of the many congenital malformations that often occur in humans. It is characterized by morphological abnormalities that can alter the facial structure and affect the anatomical structure, as well as muscle function with variations of severity. The cause of orofacial cleft is generated from many factors, where there is a combination of genetic factors and environmental factors.

Aim: To describe the distibution of Wnt10a C392T gene polymorphism in orofacial cleft patients.

Methods: Analysis of Wnt10a C392T gene polymorphism was performed by PCR RFLP method with AfeI restriction enzyme.

Results: Using 25 orofacial cleft samples and 75 control samples, 25 orofacial cleft samples had 25 TT genotype 100 , 20 control samples had CC genotype 26,6 , 53 samples had CT genotype 70,6 , and 2 samples had TT genotype 2,8 . No C alleles were found in orofacial cleft samples, while control samples had 91 C allele 60,7 and 59 T alleles 39,3.

Conclusions: There were significant differences in genotype distribution and allele of Wnt10a C392T gene polymorphism between orofacial cleft and control patients p value genotype 0.003, p value allele 0.001."

"Masalah terapi malaria yang dihadapi Indonesia adalah resistensi obat dan kegagalan pengobatan. Salah satu faktor yang dapat menyebabkan kegagalan pengobatan adalah buruknya biotransformasi obat pro drug menjadi bentuk aktifnya akibat karakteristik genetik manusia. Sejak tahun 2004, obat antimalaria amodiakuin yang dikombinasikan dengan artemisinin menjadi terapi lini pertama terapi malaria di Indonesia. Amodiakuin, sebagai pro-drug, memerlukan enzim CYP2C8 untuk membentuk metabolit aktifnya, desetilamodiakuin. Polimorfisme gen CYP2C8 yang menyandi protein enzim CYP2C8 diduga dapat menyebabkan kegagalan terapi akibat tidak terbentuknya metabolit aktif yang mencukupi.Penelitian dengan disain potong lintang ini dilakukan untuk mengetahui adanya perbedaan proporsi ale! mutan gen CYP2C8 pada penderita malaria faiciparum tanpa komplikasi di desa Sentani Papua yang gaga! dan yang berhasil diterapi dengan amodiakuin atau artesunatamodiakuin.Sampel penelitian adalah sampel darah pada kertas saring Whatman dari 43 subjek yang gagal dan 65 subjek yang berhasil diterapi dengan amodiakuin atau kombinasi artesunat-amodiakuin. Penelitian dilakukan dengan metode PCR-RFLP untuk mengidentifikasi ada tidaknya alel mutan. Alel mutan yang diperiksa adalah CYP2C8*2, CYP2C8*3, dan CYP2C8*4.Hasil penelitian menunjukkan tidak ditemukannya alel mutan gen CYP2C8 pada kedua kelompok penderita malaria faiciparum. Hasil ini membuktikan bahwa alel-alel mutan gen CYP2C8 pada populasi penelitian terdistribusi dalam frekuensi yang sangat rendah atau bahkan tidak ada sama sekali. Polimortisme gen CYP2C8 tidak berhubungan dengan penyebab kegagalan terapi pada kelompok subjek penderita malaria faiciparum yang gagal diterapi.

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The major problems of malaria in Indonesia nowadays are drug resistance and therapeutic failure. One factor that might cause the therapeutic failure is insufficient or poor biotransformation of pro-drug to its active form related to human genetic characteristics. Since 2004, combination of artemisinin and amodiaquine has been adopted as the first line therapy for malaria in Indonesia. Amodiaquine, as a pro-drug, needs CYP2C8 enzyme to produce its active metabolite, desethylamodiaquine. Polymorphism of CYP2C8 gene that codes the enzyme is assumed to be responsible for therapeutic failure because desethylamodiaquine produced in small amount.

This is a cross-sectional study to identify the proportion of mutant allele of CYP2C8 gene on malaria faciparum patients without complication at Sentani village, Papua, who were treated by amodiaquine or artesunatamodiaquine.

The blood samples on Whatrnan filter papers were obtained from 43 subjects who failed to respond and 65 subjects who responded well by amodiaquine or artesunate-amodiaquine. The study applied PCR-RFLP methods to analyze CYP2C8 gene and to determine the mutant alleles. The mutant alleles analyzed included CYP2C8*2, CYP2C8*3, and CYP2G8*4.

Our study showed that no mutant alleles were found in both groups. This result proved that the frequency distribution of CYP2C8 mutant alleles is very low or even absence in our study population. It is concluded that polymorphism of CYP2C8 gene is not related to the therapeutic failure."

"Latar belakang. Endometriosis adalah suatu penyakit radang kronik yang dicirikan dengan adanya pertumbuhan jaringan mirip endometrium yang dapat ditemukan pada peritoneum, ovarium, dan septum retrovagina. Penyakit ini merupakan penyakit multifaktorial yang dapat disebabkan oleh faktor genetik dan lingkungan. Selain itu, faktor hormonal diketahui mempengaruhi perkembangan dan klinis endometriosis. Resistensi hormon progesteron merupakah salah satu penyebab terjadinya endometriosis karena sering dihubungkan dengan rendahnya kadar dan aktivitas kerja reseptor hormon progesteron pada endometriosis. Polimorfisme gen reseptor progesteron (PROGINS=progesterone receptor gene polymorphism) diketahui berkaitan dengan risiko endometriosis. Penelitian ini bertujuan untuk mengetahui hubungan polimorfisme gen reseptor progesteron (PR) rs139646398 dengan endometriosis di Indonesia. Metode penelitian. Penelitian cross sectional ini menggunakan 30 sampel jaringan endometriosis ovarium dari wanita penderita endometriosis dan 17 jaringan endometrium dari wanita tanpa endometriosis. Sampel DNA dari subjek diisolasi, dilakukan PCR, diikuti dengan proses elektroforesis, dan dilanjutkan dengan DNA sequencing. Hasil. Hasilnya dianalisis secara statistik dengan uji Fisher. Tidak ditemukan perbedaan yang signifikan frekuensi genotip rs139646398 dari gen PR pada endometriosis ovarium dan kontrol (p=0,638). Penelitian ini menunjukkan tidak adanya hubungan antara polimorfisme gen reseptor progesteron rs139646398 dengan endometriosis di Indonesia. Kesimpulan. Penelitian ini menunjukkan tidak adanya hubungan antara polimorfisme gen reseptor progesteron rs139646398 dengan endometriosis di Indonesia.

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Endometriosis is a chronic inflammatory disease characterized by the growth of endometrial-like tissues that can be found in peritoneum, ovary, and retrovaginal septum. This disease is a multifactorial disease caused by genetic and environmental factors. In addition, hormonal factors are known to influence the development and clinical symptom of endometriosis. Progesterone resistance is one of the causes of endometriosis. It is often associated with low levels or activity of hormone progesterone receptor in endometriosis patients. Progesterone receptor gene polymorphism (PROGINS) is known to be associated with the risk of endometriosis. This study aims to determine the relationship between progesterone receptor (PR) gene polymorphism rs139646398 with endometriosis.

Methods. This cross sectional study used 30 endometriosis ovary samples from women suffered endometriosis and 17 endometrium tissues from women without endometriosis. DNA samples from subjects were isolated, PCR was carried out, then followed by electrophoresis, and continued with DNA sequencing.

Results. The results were statistically analysed by Fisher’s test. There was no statistically significant difference in genotype frequency of rs139646398 of the PR gene in ovarian endometriosis and controls (p=0.638).

Conclusion. This study shows no relationship between progesterone receptor gene polymorphism rs139646398 and endometriosis in Indonesia."

"Latar Belakang: Karies gigi adalah penyakit dan infeksi rongga mulut yang paling umumterjadi di dunia. Karies merupakan penyakit yang multifaktorial yang dipengaruhi oleh faktorhost, agent, lingkungan dan waktu. Kondisi dari suatu host dipengaruhi oleh gen yang dimilikihost, seperti gen TFRC rs3178762. Gen TFRC rs3178762 menginstruksikan pembentukankompleks protein yang akan berikatan dengan patogen dan bekerja sama dengan sistem imunmenghancurkan patogen pada lingkungan oral. Penelitian mengenai polimorfisme gen TFRCrs3178762 pada penderita karies telah dilakukan di berbagai negara, akan tetapi penelitiantersebut belum pernah dilakukan di Indonesia. Oleh karena itu, penelitian ini dilakukan untukmengetahui hubungan gen TFRC rs3178762 pada penderita karies di Indonesia. Tujuan:Mengetahui hubungan antara polimorfisme gen TFRC rs3178762 pada penderita karies diIndonesia. Metode: Analisis polimorfisme gen TFRC rs3178762 dilakukan dengan metodePCR-RFLP dengan enzim restriksi MspI. Hasil: Dalam penelitian ini, pada kelompok kariesditemukan enam sampel dengan genotip GG, 29 sampel dengan genotip GA, dan 15 sampeldengan genotip AA. Sedangkan pada kelompok kontrol, ditemukan 43 sampel dengan genotipGG, tujuh sampel dengan genotip GA, dan tidak ditemukan genotip AA. Pada kelompok kariesditemukan 42 alel G dan 59 alel A, dan pada kelompok kontrol ditemukan 93 alel G dan 7 alelA. Kesimpulan: Terdapat perbedaan bermakna pada distribusi polimorfisme gen TFRCrs3178762 antara penderita karies dengan kelompok kontrol (p = 0.001).

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Background: Dental caries is the most common disease and infection of the oral

cavity in the world. Caries is a multifactorial disease that is influenced by host,

agents, environment and time factors. The condition of a host is influenced by the

host's genes, such as the Gen TFRC rs3178762 gene. The Gen TFRC rs3178762 instructs

the formation of a protein complex that binds to pathogens and works together with

the immune system to destroy pathogens in the oral environment. Research on the

Gen TFRC rs3178762 gene polymorphism in caries patients has been carried out in

various countries, but such research has never been conducted in Indonesia.

Therefore, this study was conducted to determine the relationship of the Gen TFRC

rs3178762 gene in caries patients in Indonesia. Objective: To determine the

relationship between the Gen TFRC rs3178762 gene polymorphism in caries patients

in Indonesia. Methods: Analysis of the Gen TFRC rs3178762 gene polymorphism

was carried out by the PCR-RFLP method with the MspI restriction enzyme.

Results: In this study, in the caries group there were six samples with GG genotype,

29 samples with GA genotype, and 15 samples with AA genotype. Whereas in the

control group, there were 43 samples with GG genotype, seven samples with GA

genotype, and no AA genotype. In the caries group found 42 G alleles and 59 A

alleles, and in the control group 93 G alleles and 7 A alleles were found.

Conclusion: There were significant differences in the distribution of the Gen TFRC

rs3178762 gene polymorphism between caries and control groups (p = 0.001)."