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Abstrak :
Pigmentasi merupakan proses fisiologis yang ditandai dengan perubahan warna kulit yang terjadi secara kompleks dan dapat dipengaruhi oleh profil genetik. Hingga saat ini, belum terdapat penelitian serta publikasi yang membahas bagaimana profil genetik dapat mempengaruhi karakteristik pigmentasi di Indonesia. Analisis Genome-Wide Association Study (GWAS) pada penelitian ini dilakukan terhadap 94 subjek wanita pada populasi di Jakarta. Penelitian meliputi pengambilan dan pengolahan data, uji asosiasi, dan analisis pengayaan menggunakan berbagai basis data. Uji asosiasi menunjukkan terdapat dua SNP yang memiliki asosiasi terhadap indeks melanin dengan nilai P <1x10-5 yaitu rs10031234 (nilai P: 3,229x10-6) dan rs11548325 (nilai P: 7,808x10-6). Analisis pengayaan menunjukkan SNP rs10031234 terletak pada region gen SORCS2, sementara SNP rs11548325 terletak pada region gen PSAPL1. Gen SORCS2 terekspresi pada jaringan kulit khususnya pada sel yang berkaitan dengan akar rambut dan fibroblast. Variasi rs11548325 terjadi pada domain SapA diketahui berkaitan dengan metabolisme sphingolipid. Analisis pengayaan fungsi menunjukkan kaitan gen-gen yang terasosiasi dengan proses keratinisasi. Namun demikian, perlu dilakukan penelitian lebih lanjut menggunakan sampel yang lebih besar agar dapat diperoleh nilai signifikansi yang lebih bermakna serta analisis korelasi antar kedua SNP rs10031234 dan rs11548325 dengan fungsi molekuler. ......Skin pigmentation is a physiological process characterized by changes in the color of the skin and can be influenced by genetic profiles. To date, there have been no studies and publications that discuss how genetic profiles can affect skin pigmentation in Indonesia. Genome-Wide Association Study (GWAS) was conducted on 94 female subjects who live in Jakarta. The research procedure includes data collection and processing, association testing, and enrichment analysis using various databases. The association test showed that there were two SNPs associated with the melanin index with a P value <1x10-5, which are rs10031234 (P value: 3.229x10-6) and rs11548325 (P value: 7.808x10-6). Enrichment analysis showed that SNP rs10031234 was located in the SORCS2 gene region, while SNP rs11548325 was located in the PSAPL1 and SORCS2 gene regions. SORCS2 gene is expressed in skin tissue, especially in cells associated with hair roots and fibroblasts. The rs11548325 variation located in the SapA domain which is known to be related to glycosphingolipid metabolism. Functional enrichment analysis showed the association of genes associated with the keratinization process. However, it is necessary to carry out further research using a larger sample to obtain a higher significance value, and also conducting correlation analysis between SNP rs10031234 and rs11548325 with molecular.

Abstrak :
[ABSTRAK
Latar Belakang. SNP IL-28B mempunyai peran penting dalam pencapaian SVR pada pengobatan Hepatitis C kronik antarras manusia dan berpotensi untuk memprediksi keberhasilan terapi Peg-IFN/RBV maupun penyembuhan spontan Hepatitis C akut. Hingga saat ini, mekanisme molekular yang mendasari kaitan SNP IL-28B dengan respons terapi masih belum jelas meskipun diperkirakan terkait dengan ekspresi IFN-l3 dan reseptor IFN-l3 di jaringan hati. Tujuan. Mengetahui hubungan SNP IL-28B dan SVR serta ekspresi IFN-l3 dan reseptor IFN-l3 di jaringan hati serta mendapatkan kemaknaan klinis SNP IL-28B dan kovariat SVR dalam memprediksi respons terapi Peg-IFN/RBV. Metode. Penelitian ini terbagi menjadi dua bagian. Pertama, penelitian potong lintang pada pasien Hepatitis C kronik yang telah selesai menjalani terapi Peg-IFN/RBV dengan melakukan pengambilan data dasar dan sampel darah. Kedua, penelitian kasus kontrol pasien yang menjalani biopsi hati dan pewarnaan imunohistokimia. Hasil. Pencapaian SVR yang lebih tinggi ditemukan pada pasien dengan alel CC SNP IL28B (p=0,014). Alel CC SNP IL28B mempunyai ekspresi IFN-l3 lebih tinggi dibandingkan dengan alel non-CC (p = 0,018). Meskipun demikian, tidak ditemukan adanya perbedaan bermakna antara ekspresi IFN-l3 (p = 0,237) maupun reseptor IFN-l3 dengan SVR (p = 0,237). Pada penelitian ini, diformulasikan persamaan faktor risiko pencapaian SVR sebagai p = 1 / (1 + e-y); e = 2,7, y = -2,498 + 2,652 (SNP IL-28B) + 2,029 (trombosit) untuk praterapi dan sedangkan untuk masa terapi y = -0,223 + 2,621 (RVR). Simpulan. SNP IL-28B merupakan faktor risiko praterapi yang penting dalam pengobatan hep C kronik G1 menggunakan terapi dua kombinasi. Alel mayor IL28B mengekspresikan IFN-l3 dan reseptornya lebih banyak sebagai respons adanya VHC, namun tidak ditemukan adanya hubungan hal tersebut dengan pencapaian SVR. RVR merupakan faktor masa terapi terbaik untuk memprediksi SVR. Penelitian lanjutan diperlukan untuk membuktikan adanya faktor lain yang berperan dalam pencapaian SVR.;

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ABSTRACT
Background: SNP IL-28B played an important role in achieving sustained virological response (SVR) among different ethnics in chronic Hepatitis C patients and is considered potential in predicting treatment response of Pegylated interferon/ribavirin (Peg-IFN/RBV) combination and spontaneous clearance in acute hepatitis. Up to date, molecular mechanism underlying correlation between SNP IL28B and SVR has not been fully understood yet although it is predicted to be related to IFN-λ3 and IFN-λ3 receptor in liver tissues. Aim: Understanding the association between SNP IL-28B and SVR in chronic Hepatitis C treatment and expression of IFN-l3 and IFN-l3 receptor in liver tissues to evaluate clinical importance of SNP IL-28B examination in Hepatitis C treatment of Peg-IFN/RBV through SVR prediction model. Methods: This study consisted of two parts. First, a cross-sectional study on chronic Hepatitis C patients who completed Peg-IFN/RBV therapy. The second part was case control study on patients underwent liver biopsy and immunohistochemical staining. Results: Sustained virological response was significantly higher in CC allele of SNP IL-28B compared to non CC allele (p = 0.015). Higher expression of IFN-l3 was found in CC allele compared to non CC allele (p = 0.018). On the other hand, there is no significant difference between SVR and expression of IFN-l3 (p = 0.237) and IFN-l3 receptor (p = 0.237). Risk factor for SVR probability were formulated into p = 1 / (1 + e-y); e = 2.7, y = -2.498 + 2.652 (SNP IL-28B) + 2.029 (thrombocytes) for pretreatment while for on treatment risk factor y = -0.223 + 2.621 (RVR) Conclusion: SNP IL-28B was important pretreatment risk factor in genotype 1 chronic Hepatitis C treated with dual therapy. Major allele of IL-28B expressed more IFN-l3 and its receptor in response to HCV although no association between both factors was found. RVR was the best on treatment factor for SVR. Further evaluation study was required to find other possible factors affecting SVR achievement , Background: SNP IL-28B played an important role in achieving sustained virological response (SVR) among different ethnics in chronic Hepatitis C patients and is considered potential in predicting treatment response of Pegylated interferon/ribavirin (Peg-IFN/RBV) combination and spontaneous clearance in acute hepatitis. Up to date, molecular mechanism underlying correlation between SNP IL28B and SVR has not been fully understood yet although it is predicted to be related to IFN-λ3 and IFN-λ3 receptor in liver tissues. Aim: Understanding the association between SNP IL-28B and SVR in chronic Hepatitis C treatment and expression of IFN-l3 and IFN-l3 receptor in liver tissues to evaluate clinical importance of SNP IL-28B examination in Hepatitis C treatment of Peg-IFN/RBV through SVR prediction model. Methods: This study consisted of two parts. First, a cross-sectional study on chronic Hepatitis C patients who completed Peg-IFN/RBV therapy. The second part was case control study on patients underwent liver biopsy and immunohistochemical staining. Results: Sustained virological response was significantly higher in CC allele of SNP IL-28B compared to non CC allele (p = 0.015). Higher expression of IFN-l3 was found in CC allele compared to non CC allele (p = 0.018). On the other hand, there is no significant difference between SVR and expression of IFN-l3 (p = 0.237) and IFN-l3 receptor (p = 0.237). Risk factor for SVR probability were formulated into p = 1 / (1 + e-y); e = 2.7, y = -2.498 + 2.652 (SNP IL-28B) + 2.029 (thrombocytes) for pretreatment while for on treatment risk factor y = -0.223 + 2.621 (RVR) Conclusion: SNP IL-28B was important pretreatment risk factor in genotype 1 chronic Hepatitis C treated with dual therapy. Major allele of IL-28B expressed more IFN-l3 and its receptor in response to HCV although no association between both factors was found. RVR was the best on treatment factor for SVR. Further evaluation study was required to find other possible factors affecting SVR achievement ]

Abstrak :
Permasalahan gagal bayar sering dialami debitur, salah satunya menimpa perusahaan pembiayaan PT Sunprima Nusantara Pembiayaan (“PT SNP”). Laporan keuangan yang menjadi acuan pemberian kredit serta penerbitan dan pemeringkatan Medium Term Notes (“MTN”) tidak menunjukkan kondisi keuangan sebenarnya, sehingga menjadi faktor utama terjadinya kasus gagal bayar PT SNP. Peran Otoritas Jasa Keuangan (“OJK”) sebagai pengawas sangat diperlukan untuk dapat memberikan perlindungan juga keterbukaan informasi kepada setiap konsumen lembaga pembiayaan. Permasalahan tersebut yaitu terkait tugas dan wewenang OJK dalam penerbitan dan pemeringkatan MTN, serta peran OJK dalam perlindungan konsumen terhadap pemegang MTN PT SNP yang telah dinyatakan pailit. Penelitian dilakukan menggunakan data sekunder yang terdiri atas bahan hukum primer, sekunder dan tersier. Data tersebut disusun kualitatif, melalui uraian teks dan dianalisis dengan teknik analisis deskriptif dan kritis. Kesimpulan pertama, tugas dan wewenang OJK dalam proses penerbitan dan pemeringkatan MTN dapat ditinjau dari sebelum dan sesudah diterbitkannya POJK No. 35 tahun 2018 dan POJK No. 30 Tahun 2019, OJK tidak memiliki wewenang secara langsung dalam setiap produk MTN yang diterbitkan PT SNP, namun OJK dapat mengungkapkan setiap informasi, kondisi ataupun sanksi yang sedang dijalankan oleh suatu lembaga pembiayaan. Namun hal inilah yang belum terlihat dalam pelaksanaannya. Sehingga, untuk mendorong peran aktif dari OJK dalam memberikan perlindungan kepada setiap konsumen jasa keuangan perlu adanya jaminan bahwa peraturan terkait penerbitan efek bersifat utang yang salah satu instrumennya adalah MTN terlaksanakan dengan baik agar dapat memberikan rasa aman dan perlindungan terhadap setiap investor/kreditur. Selanjutnya, pemegang MTN diharapkan dapat berperan lebih aktif dalam melakukan pengawasan, pemeriksaan serta evaluasi melalui pelaporan keuangan berkala. Selain itu, terhadap pelaporan keuangan yang dilakukan secara rutin tiap bulannya, perlu adanya parameter untuk penjatuhan sanksi kepada perusahaan jasa keuangan non bank yang terbukti melakukan tindakan curang, sehingga tidak hanya sebatas sanksi administratif. ......Debtors often experience default problems, one of which is the financing company PT Sunprima Nusantara Pemfundan (“PT SNP”). The financial statements that serve as the reference for granting credit as well as the issuance and rating of Medium Term Notes (“MTN”) do not show the actual financial condition, thus becoming the main factor in the PT SNP default case. The role of the Financial Services Authority (“OJK”) as a supervisor is very necessary to be able to provide protection as well as information disclosure to every consumer of a financial institution. These problems are related to the duties and authorities of OJK in issuing and rating MTN, as well as the role of OJK in consumer protection for PT SNP MTN holders who have been declared bankrupt. The research was conducted using secondary data consisting of primary, secondary and tertiary legal materials. The data was compiled qualitatively, through text descriptions and analyzed using descriptive and critical analysis techniques. The first conclusion is that the OJK's duties and authorities in the process of issuing and rating MTN can be reviewed before and after the issuance of OJK Regulations related to the Implementation of Financing Companies and POJK No. 30 of 2019, OJK does not have direct authority in every MTN product issued by PT SNP, but OJK can disclose any information, conditions or sanctions that are being carried out by a financing institution. However, this has not been seen in its implementation. Thus, to encourage the active role of the OJK in providing protection to every consumer of financial services, it is necessary to guarantee that regulations regarding the issuance of debt securities, one of which is MTN, are implemented properly in order to provide a sense of security and protection to every investor/creditor. Furthermore, MTN holders are expected to play a more active role in conducting supervision, inspection and evaluation through periodic financial reporting. In addition, for financial reporting that is carried out routinely every month, the parameters are needed for imposing sanctions on non-bank financial services companies that are proven to have committed fraudulent actions, so that they are not only limited to administrative sanction

Abstrak :
Hipertensi merupakan penyakit penyerta yang paling umum ada pada penderita COVID-19. Faktor risiko seperti genetik, sosiodemografi, dan kondisi klinis awal diduga dapat memengaruhi kerentanan individu terhadap hipertensi dan COVID-19. Salah satu gen yang berhubungan dengan hipertensi adalah gen ACE. Penelitian ini bertujuan untuk mengkaji variasi genetik gen ACE dalam hubungannya dengan risiko kerentanan dan penanganan penyakit hipertensi dan COVID-19 menggunakan model populasi Palu-Sulawesi Tengah. Penelitian ini merupakan studi observasional dengan desain cross-sectional. Data faktor non-genetik diperoleh dari rekam medis dan kuesioner. Identifikasi variasi genetik dilakukan pada 4 lokasi pada gen ACE, yaitu rs1799752 (I/D) dengan metode PCR, dan rs4331 (A/G), rs4341 (G/C), dan rs4343 (G/A) dengan rhAmp SNP genotyping. Data faktor genetik dan non-genetik kemudian disusun menjadi model instrumen translasional. Studi melibatkan 136 subjek, dan analisis variasi genetik menunjukkan genotipe dominan untuk rs1799752 adalah II (50%), rs4331 adalah GG (51%), rs4341 adalah GG (100%), dan rs4343 adalah AA (65%). Varian alel D rs1799752, alel A rs4331, dan alel G rs4343 menunjukkan hubungan dengan kerentanan terhadap hipertensi, COVID-19, dan keparahan COVID-19. Analisis regresi menunjukkan bahwa jenis kelamin, usia, riwayat hipertensi, LDL, asam urat, glukosa darah, dan variasi genetik gen ACE adalah prediktor dalam menilai tingkat risiko hipertensi. Sementara itu, jenis kelamin, trigliserida, HDL, komorbiditas hipertensi, dan variasi genetik gen ACE adalah prediktor dalam menilai risiko terhadap kejadian COVID-19, sementara komorbiditas hipertensi, IMT, asam urat, dan variasi genetik gen ACE adalah prediktor dalam menilai risiko keparahan COVID-19. Asesmen prediksi instrumen translasional menunjukkan bahwa 31% dari kelompok hipertensi berisiko tinggi terhadap kejadian COVID-19 dan 46% memiliki berisiko sangat tinggi untuk mengalami keparahan yang lebih tinggi. Asesmen prediksi instrumen translasional hipertensi menunjukkan bahwa 22% subjek memiliki risiko sangat tinggi dan 23% diantaranya memerlukan penyesuaian pola terapi. Variasi gen ACE rs4331, rs1799752, dan rs4343, bersama dengan faktor risiko non-genetik, dapat digunakan sebagai prediktor untuk kejadian hipertensi, COVID-19, dan keparahan COVID-19. Variasi gen dan faktor non-genetik ini dapat dikembangkan menjadi model pengobatan presisi untuk mengevaluasi tingkat risiko dan penanganan individu terhadap hipertensi, COVID-19, dan keparahan COVID-19 di kalangan populasi Palu-Sulawesi Tengah secara translasional. ......Hypertension is the most common comorbidity in COVID-19 sufferers. Risk factors such as genetics, sociodemographics, and initial clinical conditions are thought to influence an individual's susceptibility to hypertension and COVID-19. One of the genes associated with hypertension is the ACE gene. This study examines the ACE gene's genetic variation in summary with the risk of developing hypertension and COVID-19 using the Palu-Central Sulawesi population model. This research is an observational study with a cross-sectional design. Data on non-genetic factors were obtained from medical records and questionnaires. Identification of genetic variations was carried out at 4 locations in the ACE gene, namely rs1799752 (I/D) using the PCR method, rs4331 (A/G), rs4341 (G/C), and rs4343 (G/A) using rhAmp SNP genotyping. Data on genetic and non-genetic factors are then compiled into a translational instrument model. The study involved 136 subjects, and analysis of genetic variations showed that the dominant genotype for rs1799752 was II (50%), rs4331 was GG (51%), rs4341 was GG (100%), and rs4343 was AA (65%). The variant D allele rs1799753, A allele rs4331, and G allele rs4343 showed an association with susceptibility to hypertension, COVID-19, and severity of COVID-19. Regression analysis showed that gender, age, history of hypertension, LDL, uric acid, blood glucose, and genetic variations of the ACE gene were predictors in assessing the level of hypertension risk. Meanwhile, gender, triglycerides, HDL, comorbid hypertension, and genetic variations of the ACE gene are predictors in determining the risk of COVID-19. In contrast, comorbid hypertension, BMI, uric acid, and genetic variations of the ACE gene are predictors in assessing the risk of COVID-19 severity. -19. The translational instrument prediction assessment showed that 31% of the hypertension group were at high risk of experiencing COVID-19, and 46% were at very high risk of experiencing higher severity. The translational instrument prediction assessment for hypertension showed that 22% of subjects had a very high risk, and 23% of them required adjustment of therapy patterns. ACE gene variations rs4331, rs1799752, and rs4343, together with non-genetic risk factors, can be used as predictors for the incidence of hypertension, COVID-19, and severity of COVID-19. These gene variations and non-genetic factors can be developed into a precision medicine model to evaluate the risk level and individual treatment of hypertension, COVID-19, and the severity of COVID-19 among the Palu-Central Sulawesi population in a translational.

Abstrak :
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).

Abstrak :

Sindrom Ovarium Polikistik (SOPK) merupakan gangguan pada sistem reproduksi wanita yang menjadi penyebab umum terjadinya infertilitas pada usia reproduktif. Etiologi dari SOPK belum diketahui dengan pasti, namun lebih dari 50% wanita SOPK mengalami obesitas. Single Nucleotide Polymorphism (SNP) rs9939609 gen Fat Mass and Obesity Associated (FTO) merupakan kandidat genetik yang dapat memengaruhi perkembangan obesitas dan kerentanan terhadap SOPK. Tujuan dari penelitian ini untuk mengetahui asosiasi SNP rs9939609 gen FTO dengan SOPK. Penelitian ini menggunakan 120 sampel darah dengan masing-masing 30 sampel untuk setiap kelompok, yaitu kelompok wanita normal obesitas, normal non-obesitas, SOPK obesitas, dan SOPK non-obesitas. Metode yang digunakan yaitu amplifikasi sekuens target dengan Polymerase Chain Reaction (PCR), validasi dengan elektroforesis, dan sekuensing dengan menggunakan Automated Sanger. Hasil sekuensing dianalisis menggunakan perangkat lunak Bioedit dan FinchTV. Hasil penelitian ini menunjukkan adanya frekuensi minor alel A sebesar 29,6% serta frekuensi genotipe AA, AT, dan TT secara berurutan sebesar 10%, 39,20%, dan 50,80%. Studi ini juga menunjukkan hasil tidak adanya asosiasi (p>0,05) antara SNP rs9939609 gen FTO dengan sindrom ovarium polikistik.

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Polycystic Ovarian Syndrome (PCOS) is a female reproductive disorder which is a common cause of infertility at reproductive age. The etiology of PCOS is still unclear, however more than 50% of PCOS women are obese. Single Nucleotide Polymorphism (SNP) rs9939609 Fat Mass and Obesity Associated (FTO) gene is a genetic candidate that can affect the development of obesity and susceptibility to PCOS. This study aims to determine the association of FTO gene SNP rs9939609 with PCOS. Samples in this study was 120 blood samples divided into 30 samples for each group, normal with obesity, normal lean, PCOS with obesity, and PCOS lean. Amplification of target sequences using the PCR method, validation with electrophoresis, and sequencing was carried out using an Automated Sanger. Sequencing results were analyzed with Bioedit and FinchTV software. The results of this study showed that a minor allele A frequency was 29.6% and the genotype frequencies of AA, AT, and TT were 10%, 39.20%, and 50.80%, respectively. This study also showed no association (p>0.05) between SNP rs9939609 with polycystic ovarian syndrome.

 

Abstrak :
Alopecia areata (AA) merupakan jenis kerontokan rambut pada manusia yang disebabkan oleh serangan sel-sel imun tubuh terhadap folikel rambut di fase anagen. Single nucleotide polymorphism (SNP) rs2476601 adalah salah satu varian gen yang terletak di gen protein tyrosine phosphatase non-receptor type 22 (PTPN22) dan diketahui berasosiasi dengan kemunculan AA berdasarkan penelitian yang dilakukan di berbagai negara. Perubahan basa sitosin menjadi timin pada posisi ke-1858 diprediksi menyebabkan penurunan kemampuan protein lymphoid-specific tyrosine phosphatase (Lyp) untuk menghambat aktivasi sel T. Penelitian ini bertujuan untuk mengetahui keberadaan asosiasi SNP rs2476601 dengan kemunculan fenotipe AA pada populasi Indonesia. Pengambilan sampel buccal swab dilakukan terhadap 50 pasien penderita AA dan 50 individu normal sebagai subjek kontrol. Penentuan genotipe subjek dilakukan dengan teknik PCR-RFLP menggunakan enzim restriksi RsaI, lalu analisis statistik dilakukan dengan uji Fisher’s exact. Dari seluruh subjek yang diteliti, sebanyak 99% genotipe merupakan genotipe CC yang ditandai dengan 4 pita dan 1% genotipe merupakan genotipe CT yang ditandai dengan 5 pita. Tidak ditemukan adanya genotipe homozigot TT pada kedua kelompok studi. Populasi subjek yang terlibat dalam penelitian berada dalam keseimbangan Hardy-Weinberg. Nilai p yang ditemukan dari hasil uji Fisher’s exact tidak menunjukkan adanya asosiasi yang bermakna antara genotipe CT/TT dan kondisi AA (p>0,05). Penelitian ini memberikan kesimpulan bahwa rs2476601 gen PTPN22 tidak memiliki asosiasi terhadap kemunculan AA pada populasi di Indonesia. ......Alopecia areata (AA) is a type of hair loss in human caused by the body's immune cells attacking hair follicles in the anagen phase. Single nucleotide polymorphism (SNP) rs2476601 is a gene variant located in the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene and associated with the emergence of AA based on studies conducted in various countries. The substitution of cytosine to thymine base at position 1858 decreases the ability of lymphoid-specific tyrosine phosphatase (Lyp) protein to inhibit T cell activation. This study aimed to determine the association of SNP rs2476601 with the appearance of the AA phenotype in the Indonesian population. Buccal swabs were extracted from 50 patients with AA and 50 normal individuals as control subjects. PCRRFLP technique were used to determine the subject’s genotype using the RsaI restriction enzyme, then the statistical analysis were conducted using Fisher’s exact test calculations. From all the subjects involved, 99% of the genotypes belonged to CC genotype indicated by four bands and 1% belonged to CT genotype indicated by five bands. No homozygous TT genotype was detected in both study groups. This study implies that the subject population involed is at Hardy-Weinberg equilibrium. However, the p-value generated from the Fisher’s exact test shows that there was no association between the CT/TT genotype and AA conditions (p>0.05). In conclusion, this study found that rs2476601 from the PTPN22 gene is not associated with the emergence of AA in the Indonesian population.

Abstrak :
Salah satu strategi eliminasi infeksi Soil transmitted Helminth (STH) adalah pemberian antelmintik seperti albendazol secara massal. Tetapi penggunaan antelmintik secara luas dalam jangka waktu lama dikhawatirkan dapat menyebabkan terjadinya terjadi penurunan efikasi obat. Salah satu faktor yang bisa menyebabkan penurunan efikasinya adalah single nucleotide polymorphism (SNP) kodon 200 gen beta tubulin cacing. Penelitian ini bertujuan untuk mengetahui susunan basa kodon 200 pada A. lumbricoides dan T. trichiura yang bisa menyebabkan adanya perbedaan efikasi albendazol. DNA dari telur dan jaringan cacing diisolasi, diamplifikasi dengan PCR kemudian dilakukan proses sekuensing. Setelah itu pada hasil sekuensing dilakukan alignment dengan sekuens referensi untuk mengetahui susunan basa pada kodon 200 gen beta tubulin. Hasilnya pada dua cacing A. lumbricoides dan satu cacing T. trichiura didapatkan susunan basa TTC pada kodon 200.

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One of the Soil transmitted Helminth (STH) infection elimination strategy is mass administration of anthelmintic such as albendazol. But the anthelmintic widespread use in a long term can cause decrease in efficacy. One of the factor that can cause decrease in efficacy is single nucleotide polymorphism (SNP) codon 200 beta tubulin gene of the worm. This study aimed to determine codon 200 in A. lumbricoides and T. trichiura that can cause a difference in albendazol efficacy. DNA from worm eggs and tissue were isolated, amplificated by PCR and sequenced. Sequencing result were also aligned with the reference sequence to get the bases in codon 200 beta tubulin gene. The bases on codon 200 beta tubulin gene from two A. lumbricoides and one T. trichiura is TTC.

Abstrak :
Polimorfisme gen TCF7L2 telah dilaporkan berasosiasi dengan DMT2 di berbagai populasi di dunia. Pada penelitian ini, dilakukan studi cross-sectional pada 160 individu di Desa Penglipuran, Bangli yang bertujuan mengetahui prevalensi DMT2 di desa tersebut dan melihat keterkaitannya dengan polimorfisme gen TCF7L2. Tiga SNPs gen TCF7L2 yang diidentifikasi adalah rs7903146, rs10885406, dan rs12255372. Berdasarkan data klinis sampel, diketahui bahwa prevalensi DMT2 di Desa Penglipuran sebesar 5%. Studi asosiasi pada masingmasing SNPs menunjukkan bahwa asosiasi hanya ditemukan pada DMT2 laki-laki yang dipengaruhi oleh rs12255372 (p = 0,036), sedangkan dua SNPs lain, yaitu rs7903146 dan rs10885406 tidak berasosiasi (p > 0,05) dengan DMT2. Berdasarkan analisis melalui haplotype, juga tidak ditemukan adanya asosiasi antara tiap variasi haplotype dari ke-tiga SNPs tersebut dan DMT2 di Desa Penglipuran (p > 0,05).

Abstrak :
The sequencing of the human genome opened a new world of biomarkers. Is it possible to tell by a person's genetic signature how they would respond to a particular drug? his is the dream of "personalized medicine". At the moment as many as half of all drugs do not work for the people who take them. Such pharmacogenomics could also reduce the size and cost of clinical tests by allowing pharma firms to select the most suitable patients. But the reality is rather different. The difficulty lies in proving that they reliably correlete with clinical outcome. Companies that had placed their faith in genomics are now caught in a dilemma: to produce information only or new drugs. As the cost of gene sequencing has fallen, firms have rushed to offer genetic tests directly to consumers, often raising grand expectations. There now seems to be a backlash. Doctors have complained about being bypassed. Most generic tests directly do not provide conclusive evidence of this risk of disease Some academics also remain deeply skeptical about genomics being used in medicine. In addition , personalised medicine would be economic folly for firms who would need to develop a special pill for every patient. Traditionally firms sold conventional one - size - all drugs. Perhaps a better way would be mass customization.