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"Infertilitas pria paling banyak disebabkan oleh gangguan proses spermatogenesis. Androgen merupakan hormon yang sangat penting pada proses spermatogenesis. Aksi biologis hormon androgen terjadi melalui interaksi dengan reseptor androgen (RA) yang merupakan protein regulator transkripsi di dalam nukleus. Ekson 1 gen RA mengandung pengulangan trinukleotida CAG yang bersifat polimorfik. Polimorfisme pengulangan trinukleotida CAG ini diduga mempengaruhi aktivitas reseptor androgen. Penelitian meliputi isolasi DNA dari darah tepi dan amplifikasi fragmen pengulangan trinukleotida CAG gen RA dengan teknik PCR. Penentuan panjang pengulangan CAG gen RA dilakukan dengan elektroforesis pada gel poliakrilamid 6% yang mengandung zat pendenaturasi. Dari penelitian ini didapatkan perbedaan jumlah pengulangan CAG gen reseptor androgen antara pria oligozoospermia/azoospermia (24,3 ± 3,4) dan pria normozoospermia (22,7 ± 2,7). Berdasarkan uji t untuk sampel tidak berpasangan, perbedaan jumlah pengulangan CAG pada gen reseptor androgen antara kedua kelompok tersebut bermakna secara statistik (p = 0,031). Namun tidak ditemukan hubungan antara jumlah pengulangan CAG gen RA dengan konsentrasi sperma (rs = - 0,038; p = 0,775). Ini menunjukkan bahwa peningkatan jumlah pengulangan CAG gen RA bukan merupakan penyebab utama gangguan spermatogenesis. (Med J Indones 2004; 13: 215-20)

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Spermatogenesis impairment is the main cause of infertility in men. Androgen is believed to play a critical role in regulating spermatogenesis. Androgen acts by binding to the androgen receptor (AR) which is a protein regulator of DNA transcription. Exon 1 of AR gene contains a CAG repeat length polymorphism and it is believed to interfere AR function. This study includes DNA isolation from peripheral blood and amplification of CAG repeat fragments by PCR method. CAG repeat lengths were determined by electrophoresis on 6% denaturing gel polyacrylamide. We found that the mean CAG repeat lengths were 24,3 ± 3,4 in oligozoospermic/azoospermic men and 22,7 ± 2,7 in normozoospermic men. The difference in CAG repeat length between the two groups was statistically significant (p = 0,031, t-test). Nevertheless, there was no correlation between CAG repeat lengths and sperms concentration (rs = -0,038; p = 0,775). This result suggest that the expansion of CAG repeat length was not the main cause of spermatogenesis impairment. (Med J Indones 2004; 13: 215-20)"

"Ruang Lingkup dan Cara Penelitian: Infertilitas pria paling banyak disebabkan gangguan proses spermatogenesis. Androgen merupakan hormon yang sangat penting pada proses spermatogenesis, dimana penurunan kadar hormon androgen berakibat menurunnya produksi sperma. Aksi biologis hormon androgen terjadi melalui interaksi dengan reseptor androgen (RA) yang merupakan protein regulator transkripsi di dalam nukleus. Ekson 1 gen RA mengandung pengulangan trinukleotida CAG yang bersifat polimorfik. Polimorfisme pengulangan trinukleotida CAG ini diduga mempengaruhi aktivitas reseptor androgen. Penelitian ini bertujuan untuk mengetahui hubungan antara polimorfisme pengulangan CAG dengan gangguan spermatogenesis pada beberapa pria Indonesia. Penelitian meliputi isolasi DNA dari darah tepi 34 orang pria oligozoospermialazoospermia dan 25 orang pria normozoospermia. Selanjutnya dilakukan amplifikasi fragmen pengulangan trinukleotida CAG gen RA dengan teknik PCR. Penentuan panjang pengulangan CAG gen RA dilakukan dengan elektroforesis pada gel poliakrilamid 6%yang mengandung zat pendenaturasi.Hasil dan Kesimpulan: Dari penelitian ini didapatkan perbedaan jumlah pengulangan CAG pada gen reseptor androgen antara pria oligozoospermialazoospermia (24,3 ± 3,4, rerata ± SD) dan pria normozoospermia (22,7 f 2,7). Berdasarkan uji i untuk sampel tidak berpasangan, perbedaan jumlah pengulangan CAG pada gen reseptor androgen antara kedua kelompok tersebut bermakna secara statistik (p = 0,03I). Hasil penelitian ini menunjukkan terdapat perbedaan polimorfisme pengulangan CAG pads gen reseptor androgen antara pria oligozoospermialazoospermia dan pria normozoospermia. Namun tidak ditemukan hubungan antara jumlah pengulangan CAG gen RA dengan konsentrasi sperma (rs = - 0,038; p = 0,775). Ini menunjukkan bahwa peningkatan jumlah pengulangan CAG gen RA bukan sebagai penyebab utama gangguan spermatogenesis.

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The Correlation Of Cag Repeat Length Polymorphisms Of Androgen Receptor Gene And Spermatogenesis Impairment In Several Indonesian MenScope and methods of study : Spermatogenesis impairment is the main cause of infertility in men. Androgen is believed to play a critical role in regulating spermatogenesis as reduction of intratestiscular androgen results in the decreased of sperm production. Androgen acts by binding to the androgen receptor (AR) which is a protein regulator of DNA transcription. Exon I of AR gene contains a CAG repeat length polymorphism and it is believed to interfere AR function. The aim of this study is to investigate the assosiation of CAG repeat length polymorphism with spermatogenesis impairment in several Indonesian men. The study includes DNA isolation from peripheral blood of 34 oligozoospermic/azoospermic men and 25 normozoospermic men, processed for CAG repeat lengths determination using PCR and electrophoresis in 6% denaturing polyacrylamide gel.Result and conclusion : This study found that the mean CAG repeat lengths were 24,3 ± 3,4 in the oligozoospermic/azoospermic men and 22,7 ± 2,7 in the normozoospermic men. The difference in CAG repeat length between the two groups was statistically significant (p = 0,031, t-test). These result indicate that CAG repeat polymorphisms in the AR gene were differ between oligozoospermic/azoospermic men and normozoospermic men. Nevertheless, there was no correlation between CAG repeat lengths and sperms concentration (rs = -0,038; p = 0,775). This result indicate that the expansion of CAG repeat length was not the main cause of spermatogenesis impairment."

"Pendahuluan : Infertilitas merupakan masalah yang dialami pasangan suami istri, dimana faktor laki-laki berkontribusi sebesar 40%. Salah satu penyebab infertilitas dari faktor laki-laki adalah gangguan remodelling kromatin yang terjadi selama proses spermiogenesis. Pada proses ini histon akan digantikan oleh protein protamin yang menyebabkan DNA lebih padat dan kompak. Regulasi protamin dipengaruhi oleh kerja protein CREM yang merupakan faktor transkripsi pada gen protamin. Pada tahapan ini dibutuhkan peran androgen yang akan aktif setelah berikatan dengan reseptor androgen (AR), sehingga aktivitas AR sangat menentukan keberhasilan remodeling kromatin. Penelitian ini bertujuan menganalisis ekspresi protein CREM, Protamin 1 dan Protamin 2 pada spermatozoa laki-laki infertil dan kaitannya dengan variasi pengulangan CAG gen reseptor androgen. Metode: Desain penelitian cross sectional. Sampel spermatozoa berasal dari 30 pasien infertil OA/OAT dan 10 pria fertil sebagai kontrol. Protein dan DNA spermatozoa diekstraksi dari tiap-tiap individu. Analisis ekspresi protein CREM, protamin 1 dan protamin 2 dilakukan dengan teknik western immunoblotting. Distribusi protein CREM, protamin 1 dan protamin 2 dianalisis dengan teknik imunositokimia. Pemeriksaan jumlah pengulangan (CAG) dilakukan dengan sekuensing DNA spermatozoa. Hasil: Analisis protein CREM, protamin 1 dan 2 pada laki-laki infertil menunjukan ekspresi yang menurun dibandingkan dengan pria fertil. Penurunan ekspresi protein terlihat pada frekuensi keberadaan pita lebih rendah pada laki-laki infertil secara signifikan. Ekspresi protein CREM berhubungan dengan Protamin 1. Tidak terdapat hubungan ekspresi protein CREM dengan protamin 2, dan ekspresi protamine 1 dengan protamin 2. Analisis imunositokimia menunjukkan bahwa Protein CREM, Protamin 1 dan 2 diekspresikan pada daerah kepala spermatozoa laki-laki fertil dan infertil. Rerata jumlah pengulangan CAG pada laki-laki infertil 29,6 sedangkan pada laki-laki fertil 28,9. Hasil analisis statistik menunjukan tidak ada hubungan signifikan antara jumlah pengulangan CAG gen reseptor androgen dengan tingkat ekspresi CREM, Protamin 1 dan Protamin 2. Kesimpulan: Protein CREM, Protamine 1 dan protamin 2 diekspresikan lebih rendah pada spermatozoa laki-laki infertil dan tidak ada hubungan dengan pengulangan jumlah CAG gen reseptor androgen. Ekspresi protein CREM berhubungan dengan protein protamin 1.

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Introduction : Infertility is a problem experienced by married couples, and causes originated from male factors contribute around 40% of total cases. One of those factor is disturbance in chromatin remodeling during spermiogenesis. During this process, an important event in which histone protein is replaced by protamine takes place. As a result, DNA becomes more compact in size, bond by protamines protein. The expression of protamines is influenced by CREM which is a transcription factor regulating protamine genes. Protamine is transcripted in round spermatid, and translated in elongated spermatid, a process which is dependent on Androgen action. The aims of this study was to analyze CREM and protamine expression in spermatozoa from infertile patients and its correlation with CAG repeats variation of androgen receptor gene.

Method: This cross sectional study was conducted from December 2012 through March 2015. Protein and DNA sperm were extracted from spermatozoa of infertile men. CREM, and protamines expressions were analyzed by using western immunobloting. Localization and distribution of CREM and protamines expression were analyzed by immunocytochemistry. Examination of CAG repeat was performed by DNA sequencing.

Result: CREM and protamines were found to be down-regulated in infertile men compared to fertile individuals. A significant association was found between CREM and protamine 1 expression, but not with protamine 2. No significant association was found between protamine 1 and protamine 2. Analyses using immunocytochemistry showed reduced expression in CREM and Protamine from infertile patient compared to normal individuals. The average CAG repeat of infertile men was 29.6 compared to 28,9 of fertile donors. Statistical analysis showed no significant association between expression level of CREM and Protamine towards the number of CAG repeats variation androgen receptor gene.

Conclusion: CREM, protamine 1 and protamine 2 expression are lower in spermatozoa of infertile male and no association with CAG repeats variation of androgen receptor gene. CREM expression is associated with protamine 1."

"Background: Diabetic kidney disease (DKD), as a common cause of end-stage renal disease (ESRD), is a chronic complication of diabetes mellitus (DM). It has been established that vitamin D deficiency is one of DKD risk factors, which may be related to vitamin D receptor (VDR) polymorphisms. This study aimed to analyze the association between VDR polymorphisms and DKD in Indonesian population, also risk factors that influence it. Methods: a cross-sectional study was conducted in Type 2 DM patients who visited internal medicine outpatient clinic at Dr. Cipto Mangunkusumo Hospital, Jakarta, from November 2014 until March 2015. Data collection includes characteristics of subjects and laboratory examination, including BsmI polymorphisms in the vitamin D receptor gene. Patients with acute and severe disease were excluded from the study. Bivariate and multivariate analyses were done. Results: of 93 DM subjects, 42 (45.2%) subjects were without DKD and 51 (54.8%) subjects had DKD. Most of the subjects had the Bb genotype (89.2%), with no subject having the BB genotype. The proportions of the B and b alleles were 44.6% and 55.4%, respectively. There is no association between BsmI polymorphisms in the vitamin D receptor gene and DKD (OR = 1.243; CI 95% 0.334-4.621; p value = 0.751). Conclusion: the profile of BsmI polymorphisms in the vitamin D receptor gene in the Indonesian population were genotypes Bb (89.2%) and bb (10.8%). There was no association between BsmI polymorphisms in the vitamin D receptor gene and DKD. Duration of DM more than five years influenced the association between those variables."

"Background: diabetic nephropathy (DN) is the leading cause of blood dialysis worldwide and a major etiology of End-Stage Renal Disease cases in Indonesia. Previous studies showed a relevant link between A1166C polymorphism of Angiotensin II Type-1 Receptor (AT1R) gene and glomerular hyper-filtration as a part of pathogenesis of DN. The aim of this study was to elaborate the association between A1166C AT1R polymorphism and susceptibility of individual with type-2 diabetes to DN in Malay Indonesian population. Methods: a case-control study of 120 consecutive patients with type-2 diabetes mellitus (40 patients in each groups for macro-albuminuria, micro-albuminuria, and normo-albuminuria) was conducted for A1166C AT1R gene polymorphism. The A1166C polymorphism of the AT1R gene was determined based on PCR/RFLP. Results: the mutant C allele was found in 5%, 13.75%, and 12.5% in normo-, micro-, and macro-albuminuria patients respectively. The heterozygote AC genotype was found significantly higher in micro-albuminuria, compared to normo-albuminuria group. Heterozygote AC genotype (OR 3.2 [1.01-10.08], p=0.03) and C allele (OR 2.8[0.95-8.67], p=0.038) were significantly higher in DN, indicating A1166C AT1R gene polymorphism as a risk factor for DN in Malay Indonesian population with type-2 diabetes. Conclusion: there was positive association between A1166C AT1R polymorphism and susceptibility of type-2 diabetics to DN in Malay Indonesian Population. It also indicated that the A1166C AT1R polymorphism could play a role in early pathogenesis of DN.

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Latar belakang: nefropati diabetik (ND) adalah penyebab terpenting dialisis di dunia. Penelitian terdahulu menunjukkan keterkaitan antara polimorfisme A1166C gen AT1R dan keadaan hiperfiltrasi glomerulus pada patogenesis ND. Diperlukan penelitian yang bertujuan untuk membuktikan hubungan antara polimorfisme A1166C AT1R dan kerentanan individu yang menderita diabetes melitus tipe 2, khususnya pada populasi Melayu, terhadap ND.

Metode: penelitian ini merupakan studi analitik observasional dengan desain kasus-kontrol, melibatkan 120 pasien diabetes melitus tipe 2 (DMT2), 40 pasien untuk tiap kelompok makroalbuminuria, mikroalbuminuria, dan normoalbuminuria sebagai kontrol, dengan metode consecutive sampling. Adanya polimorfisme gen A1166C AT1R diperiksa dengan metode PCR/RFLP.

Hasil: alel C mutan ditemukan sebanyak 5% pada kelompok normoalbumnuria, 13.75% pada kelompok mikroalbuminuria, dan 12.5% pada kelompok makroalbuminuria. Genotipe heterozigot AC ditemukan secara signifikan lebih tinggi pada kelompok mikroalbuminuria, dibandingkan dengan kelompok normoalbuminuria. Genotipe AC (OR 3.2 [1.01-10.08], p=0.03) dan alel C (OR 2.8[0.95-8.67], p=0.038) ditemukan lebih tinggi pada kelompok ND, menandakan polimorfisme A1166C gen AT1R sebagai faktor risiko ND pada pasien DMT2 ras melayu.

Kesimpulan: terdapat hubungan antara polimorfisme A1166C gen AT1R dengan kejadian ND pada pasien DMT2 di populasi melayu Indonesia. Juga ditemukan bahwa polimorfisme A1166C gen AT1R kemungkinan berperan dalam penurunan fungsi ginjal pada pasien DMT2 sejak tahap awal"

"ABSTRAKLatar belakang : Insiden Adenokarsinoma di RSCM meningkat pada periode 2001-2006 dibanding periode sebelumnya 1995-2000 . Banyak penderita yang resisten terhadap pengobaan hormonal. Resistensi ini diduga akibat sel tumor mengalami transformasi Neuroendokrin. Akan dilakukan penelitian untuk melihat ekspresi Androgen Receptor AR dan Chromogranin A CgA pada adenokarsinoma prostat di RSCM tahun 2011-2015.Tujuan : Membuktikan korelasi ekspresi AR dan CgA dengan derajat keganasan.Metode : Studi potong lintang analitik terhadap 70 kasus adenokarsinoma prostat di departemen PA FKUI/RSCM tahun 2011-2015. Kasus dipulas imunohistokimia AR dan Cg A serta dilakukan interpretasi hasil. AR dinilai prosentase positivitasnya pada inti epitel dan stromal. CgA dinilai prosentase positivitasnya pada sitoplasma. Uji korelasi dilakukan untuk melihat kemaknaan dan kekuatan korelasi antar variabel terikat.Hasil : Karakteristik sampel usia 47,1 >70 tahun; diferensiasi histopatologik/skor gleason 42,9 buruk/>7, grade group 28,6 grade5 dan PSA 64,3 dalam rentang 11-100ng/ml. Ekspresi CgA berkorelasi negatif lemah dengan ekspresi AR epitel r=-0,288;p=0,016 . Ekspresi CgA tidak berkorelasi dengan ekspresi AR stromal p=0,886 . Terdapat hubungan bermakna ekspresi AR epitel dengan grade group p=0,003 . Tidak terdapat hubungan bermakna ekspresi AR epitel dengan usia, diferensiasi histopatologik/skor gleason dan PSA. Ekspresi CgA berhubungan bermakna dengan diferensiasi histopatologik/skor gleason dan grade group p=0,018;p=0,038 . Tidak terdapat hubungan bermakna ekspresi CgA dengan usia dan PSA. Ekspresi AR stromal tidak berhubungan bermakna dengan usia, diferensiasi histopatologik, grade group, skor gleason, maupun PSA.Kesimpulan : Terdapat korelasi yang lemah antara AR dan CgA sehingga pulasan AR dan CgA dapat dipakai untuk pemilihan terapi.

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ABSTRACT Background Prevalence of prostate adenocarcinoma doubled in 2001 2006 compared to 1995 2000 in RSCM. Many patients resistant to hormonal treatment. This resistance is thought to be due to tumor cells undergoing neuroendocrine transformation. Study will be conducted to analyze the expression of Androgen Receptor AR and Chromogranin A CgA in prostate adenocarcinoma at RSCM in 2011 2015. Objective To prove correlation of expression of AR and CgA with degree of malignancy. Methods A cross sectional study was carried out on 70 cases of prostate adenocarcinoma in department of Anatomic Pathology FKUI RSCM from 2011 2015. AR expressed in stromal and epithelial nuclei, CgA expressed in cytoplasm. Statistical tests used to discover significance and correlation between the dependent variables. Results Most samples are more than 70 years old 47,1 , has poor histologic gleason score 42.9 , are in clinical grade 5 28.6 , and has PSA score range between 11 100 ng ml. CgA expression negatively correlates to epithelial AR expression r 0,288 p 0.016 , while no correlation are found between CgA expression and stromal AR expression p 0.886 . There is significant difference between epithelial AR expression with grade group p 0.003 , but not with age, histopathologic differentiation Gleason score and PSA. There are significant difference between CgA expression and histopathologic differentiation grade group and Gleason score p 0.018 p 0.038 , but not with age and PSA. No significant difference observed between stromal AR expression with age, histopathologic differentiation gleason score, grade group or PSA. Conclusion There rsquo s a weak correlation between AR and CgA so that AR and CgA expression can be used for the selection of therapy. "

"Latar belakang: Karsinoma nasofaring (KNF) merupakan penyakit genetik multifaktorial, bersifat endemik dan mempunyai perbedaan signifikan dalam distribusi geografi s. Selain faktor virus Epstein Barr (EBV), insiden KNF juga dipengaruhi oleh faktor genetik seperti polimorfi sme gen reseptor sel T lokus β (TCR-β). Penelitian ini bertujuan untuk mengetahui hubungan polimorfi sme gen TCR-β dengan suseptibilitas individu untuk berkembang menjadi KNF pada populasi Indonesia. Metode: Penelitian dilakukan dengan teknik PCR-RFLP menggunakan enzim restriksi Bgl II pada gen TCR-β. Analisis PCR-RFLP gen TCR-β digunakan untuk mendeterminasi alotip gen TCR-β pada penderita KNF dan kontrol dan pada kelompok etnis Cina dan pribumi dalam populasi Indonesia. Hasil: Hasil penelitian menunjukkan bahwa distribusi alotip gen TCR-β pada penderita KNF dan kontrol tidak berbeda bermakna (p > 0,05). Frekuensi alel A meningkat pada penderita KNF. Distribusi alotip gen TCR-β antara etnis Cina dan kelompok pribumi tidak memperlihatkan perbedaan bermakna (p> 0,05). Kesimpulan: Distribusi alel gen TCR-β antara kelompok KNF dengan kelompok kontrol tidak menunjukkan perbedaan. Distribusi alel gen TCR-β antara etnis Cina dan pribumi tidak menunjukkan perbedaan. Polimorfi sme gen TCR-β tidak berhubungan dengan KNF dan etnis pada populasi Indonesia.

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AbstractBackground: Nasopharyngeal carcinoma (NPC) is a multifactorial genetic disease, characteristically endemic and shows considerable differences in its geographical distribution. Besides infection with EBV, genetic factors such as polymorphisms of TCR-β gene contribute to the incidence of NPC. This study investigates the association of TCR-β gene polymorphisms with individual susceptibility to develop NPC in Indonesian ethnic groups. Methods: The study was carried out by the PCR-RFLP method using Bgl II restriction enzyme to digest TCR-β gene. The PCR-RFLP analysis of TCR-β gene was used to determine allotypes of TCR-β gene in NPC patients and control among ethnic Chinese and indigenous groups in the population of Indonesia. Results: The results indicate that the distribution of TCR-β gene allotypes between NPC patients and controls are not signifi cantly different (p > 0.05); however, the frequency of A allele tends to increase in NPC patients. The distribution of TCR-β gene allotypes between Chinese ethnic group was not signifi cantly different from indigenous groups (p > 0.05). Conclusion: The distribution of TCR-β gene allele between NPC group and control groups showed no difference. The distribution of TCR-β gene between ethnic Chinese and indigenous groups showed no difference. Polymorphisms of TCR-β gene are not associated with NPC and ethnic groups in Indonesian population. "