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"ABSTRAKStunting merupakan kondisi malnutrisi pada anak yaitu tinggi badan menurut usia lebih dari minus 2 simpang baku. Indonesia menempati urutan kelima di dunia. Stunting berkorelasi dengan asupan makanan terutama protein, IGF-1 dan protein pengikat Insulin like Growth Factor Binding Protein IGFBP-3 , dan Zinc Zn . Kualitas protein dinilai dari profil asam amino bebas plasma Plasma Free Amino Acid = PFAA dan kuantitas dinilai dari jumlah asupan protein harian. Beberapa penelitian menemukan kadar IGF-1 dipengaruhi oleh polimorfisme SNP rs5742612, rs35767 dan rs35766. Penelitian ini bertujuan untuk menganalisis peran profil PFAA, IGF-1, IGFBP-3, polimorfisme IGF-1, Insulin, dan Zn pada anak.Penelitian ini merupakan studi comparative cross sectional dilakukan di RS Cipto Mangunkusumo, Lembaga Biomolekular Eijkman, dan Labkesda DKI Jakarta. Subjek penelitian adalah anak usia 1 ndash;3 tahun berasal dari UPTD Puskesmas Jatinegara dibagi menjadi 2 kelompok yaitu 101 anak stunted dan 101 anak nonstunted.Pada penelitian ini didapatkan kadar 8 dari 9 AA esensial, 2 AA esensial kondisional, dan 2 AA nonesensial lebih rendah bermakna kelompok stunted dibandingkan nonstunted. Profil PFAA yaitu jumlah anak di bawah nilai rujukan berbeda bermakna antara kelompok stunted dan nonstunted. Terdapat korelasi 8 AA esensial, 1 AA esensial kondisional, dan 2 AA nonesensial dengan tinggi badan anak. Pada kelompok anak stunted, IGF-1, IGFBP-3, insulin, Zn, energi total dan protein lebih rendah bermakna dari kelompok anak nonstunted. Terdapat korelasi bermakna AA esensial dengan IGF-1 dan IGFBP-3. Polimorfisme rs35766 genotipe AG kodominan memiliki pengaruh terhadap kadar IGF-1 pada kelompok nonstunted. Faktor yang memengaruhi kejadian stunting adalah energi atau protein, IGF-1 yang berinteraksi dengan genotipe kodominan AG, IGFBP-3, dan Zn.Simpulan: PFAA, IGF-1 yang berinteraksi dengan SNP rs35766 genotipe kodominan AG, memiliki pengaruh terhadap kejadian stunting. Perlu penelitian lebih lanjut mengenai pemberian pola makan yang tepat untuk mencegah dan mengatasi anak stunted. Kata kunci: AA esensial, AA nonesensial, IGFBP-3, insulin, PFAA, stunting, Zn

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ABSTRACTStunting is a malnourished condition in children defined by height for age is under minus 2 standard deviation. Indonesia ranked fifth in world for this condition. Stunting mainly corelates with low protein intakes, IGF-1 and its binding protein Insulin-like Growth Factor Binding Protein/IGFBP-3 , and zinc Zn . Plasma free amino acid profile PFAA measures quality of protein intake, whilst its quantity measured by daily protein intake records. Previous studies found IGF-1 level affected by single nucleotide polymorphism SNP on rs5742612, rs35767 and rs35766. This study aims to analyze the role of PFAA, IGF-1, IGFBP-3, and IGF-1 polymorphism, insulin, and Zn in children.This study is a comparative cross-sectional study held in Cipto Mangunkusumo National General Hospital, Eijkman Institute for Molecular Biology, and Jakarta Provincial Public Health Laboratory. Subjects were children age 1 ndash;3 years old from Jatinegara Region Public Health Centre divided into two groups of 101 stunted children and 101 non-stunted children.Eight essential AA levels, 2 conditional essential AAs, 2 nonessential AAs were significantly lower in stunted groups than non-stunted. There was significant difference of profile PFAA below normal range between stunted and non-stunted group. Eight essential amino acids, 1 conditional essential amino acid, and 2 non-essential amino acid correlate with children rsquo;s height. IGF-1, IGFBP-3, insulin, Zn, total energy, and protein were significantly lower in stunted children compare to non-stunted children. Significant correlations found for all essential amino acids with IGF-1 and IGFBP-3. The rs35766 AG codominant polymorphism affects IGF-1 level in non-stunted group. Factors affects stunting condition were total energy or protein intake, IGF-1 that interacts with AG codominant genotype, IGFBP-3, and Zn.Conclusion: PFAA and IGF-1 that interacts with SNP rs35766 AG codominant genotype affect stunting. Further study needed to determine appropriate dietary habit for stunting prevention and treatsment. Keywords: Essential amino acid, IGFBP-3, insulin, non-essential amino acid, plasma free amino acid profile, stunting, zinc"

"Kejadian stunting pada masa anak-anak masih menjadi masalah kesehatan masyarakat, khususnya di negara berkembang seperti Indonesia. Berdasarkan data Riset Kesehatan Dasar (Riskesdas, 2013) prevalensi stunting pada anak usia 5-12 di Indonesia sebesar 30,7%. Faktor nutrisi telah diketahui sebagai penyebab kejadian stunting. Namun, beberapa penelitian menemukan adanya kontribusi genetik terhadap penyerapan kalsium yang akan mempengaruhi pertumbuhan, yaitu gen vitamin D receptor (VDR). Tujuan dari penelitian ini adalah untuk mengetahui hubungan antara faktor genetik dan nutrisi terhadap height-for-age Z-core (HAZ) pada anak sekolah dasar di kabupaten Malang, Jawa Timur. Penelitian ini menggunakan desain studi potong lintang dan dilakukan pada tahun 2018. Penelitian ini melibatkan 142 anak sekolah dasar berusia 8-10 tahun. Pengukuran tinggi badan dilakukan untuk menghitung HAZ pada anak-anak. Asupan energi, protein, kalsium dan vitamin D diperoleh dengan 24-hour dietary recall selama 4 hari. Dua SNP yang terletak pada daerah promoter dari gen VDR dipilih (rs11568820 dan rs4516035); dan distribusi genotipnya dianalisis menggunakan Real Time PCR. Faktor lain seperti karakteristik sosiodemografi, riwayat penyakit menular dan skor paparan sinar matahari diperoleh dengan kuesioner terstruktur, dan kuesioner paparan sinar matahari. Hasil penelitian menunjukkan bahwa prevalensi stunting sebesar 21,8%. Asupan makan sebagian besar kurang terpenuhi, khususnya asupan kalsium dan vitamin D. Distribusi genotip rs11568820 adalah TT (19%), CT (43,7%) dan CC (37,3%). Sedangkan distribusi genotip rs4516035 adalah TT (90,8%) dan CT (9,2%). Analisis bivariat menunjukkan adanya korelasi yang signifikan antara asupan energi dan protein terhadap HAZ (p=0,030 dan p=0,016), tetapi tidak pada asupan kalsium dan vitamin D. Selain itu, tidak ditemukan hubungan yang signifikan antara polimorfisme kedua SNP gen VDR dengan HAZ (p>0,05). Setelah disesuaikan dengan faktor-faktor lainnya, asupan protein secara signifikan berkolerasi dengan HAZ (β=0,034, 95% CI 0,016 – 0,053, p<0,001, adj. R2=0,077). Efek dari aktivitas gen VDR kemungkinan tidak terlihat karena rendahnya asupan vitamin D yang diperlukan untuk meningkatkan penyerapan kalsium yang kemudian akan mempengaruhi HAZ.

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Childhood stunting remains as a major public health problem, especially in developing countries such as Indonesia. According to Indonesia Basic Health Research (Riskesdas, 2013) the prevalence of stunting among children aged 5-12 years old in Indonesia was 30.7%. Nutrition factors has been known as a predominant factors associated with stunting. However, some studies discovered a genetic contribution in calcium absorption that will affect growth of the children, known as vitamin D receptor (VDR) gene. The aim of this present study was to assess the association between genetic and nutritional factors related to height-forage Z-score (HAZ) of elementary school children in Malang District, East Java. The study design was a cross-sectional study which began on 2018. In this study, 142 children aged 8-10 years old were included. Height measurement was obtained to calculate HAZ of the children. Dietary intake consist of energy, protein, calcium and vitamin D intake were obtained using 4 days 24-hour dietary recall. Two SNPs located in the promoter region of VDR gene were selected (rs11568820 and rs4516035); its genotype distribution were analyzed using Real Time PCR system. Other factors such as sociodemographic characteristics, history of infectious diseases and sun exposure score were assessed using structured questionnaire and sun exposure questionnaire. The result showed that the prevalence of stunting was 21.8%. Dietary intake were mostly inadequate, especially for calcium and vitamin D intake. Genotype distribution of rs11568820 was TT (19%), CT (43.7%), and CC (37.3). While for rs4516035 the distribution was TT (90.8%) and CT (9.2%). Bivariate analysis showed a significant correlation between energy and protein intake with HAZ of the children (p=0.030 and p=0.016, respectively), but not with calcium and vitamin D intakes. There were no significant association between VDR gene polymorphism for both SNPs and HAZ of the children (p>0.05). Adjusted by other factors, protein intake was significantly correlated with HAZ (β=0.034, 95% CI 0.016 – 0.053, p<0.001, adj. R2=0.077). The effect of VDR gene promoter activity might not revealed due to very low vitamin D intake to stimulates intestinal calcium absorption which in turn affect HAZ.

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"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."

"Infertilitas adalah keadaan dimana selama 12 bulan atau lebih hubungan seks tanpa proteksi tidak dapat menghasilkan keturunan. Di Indonesia sendiri masalah ini didasari oleh faktor dari pihak lelaki sebanyak 25%. Infertilitas pada pria dapat disebabkan oleh faktor internal dan eksternal. Faktor internal antara lain adalah faktor genetik. Salah satu dari faktor genetik adalah mutasi pada gen yang mengkode enzim Methylenetetrahydrofolate Reductase (MTHFR), yang merupakan enzim yang berperan penting dalam proses spermatogenesis. Mutasi ini terdapat pada posisi 677 yaitu perubahan alel C menjadi T yang disebut juga polimorfisme. Penelitian cross-sectional ini bertujuan untuk membuktikan apakah ada hubungan antara polimorfisme gen MTHFR SNP C677T dengan Oligozoospermia. Teknik yang digunakan pada penelitian ini adalah PCR-RFLP untuk isolasi dan amplifikasi DNA. Proses cutting DNA menggunakan enzim HinfI. Selanjutnya data dianalisis menggunakan perhitungan chi-square. Didapat hasil cutting 3 genotip (CC, CT, TT) yang menunjukkan bahwa ada hubungan bermakna antara distribusi ketiga genotip gen MTHFR C677T dan Oligozoospermia dengan p value 0.011 (p<0.05). Hasil serupa ditemukan juga pada distribusi alotip (alel C dan T) yang menunjukkan bahwa ada hubungan bermakna antara distribusi alotip dan Oligozoospermia dengan p value 0.005 (p<0.05). Dapat disimpulkan bahwa polimorfisme gen MTHFR pada posisi C677T berhubungan dengan terjadinya oligozoospermia pada pria Indonesia.

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Infertility is a condition in which 12 months or more unprotected sex fail to produce offspring. In Indonesia this condition is dominated by male infertility with the rate of 25% of all infertility cases. Male infertility can be due to internal and external factors. Internal factors include genetic factors. One of the genetic factors is mutation in gene that codes for Methylenetetrahydrofolate Reductase (MTHFR) enzyme, which is an enzyme that plays an important role in spermatogenesis process. This mutation is located in position 677, which changed allele C into T, called polymorphism.

This cross - sectional study aims to prove whether there is any association between MTHFR gene polymorphism C677T SNP and Oligozoospermia. PCR - RFLP was used for the isolation and amplification of DNA. The DNA cutting process uses Hinf1 enzyme. Furthermore, the data were analyzed with the chi - square calculations.

As a result 3 genotype cutting were obtained (CC, CT, TT) which indicates that there is a significant association between the distribution of the three genotypes of MTHFR C677T and Oligozoospermia genes with p value of 0.011 (p<0.05). Similar results were also found on the allotype distribution (allele C and T) that indicates that there is a significant association between the allotype distribution and Oligozoospermia with p value of 0.005 (p<0.05). In conclusion, MTHFR gene polymorphism C677T is associated with the occurrence of Oligozoospermia in Indonesian men."

"Polimorfisme CYP2C19 menurunkan metabolisme klopidogrel dan telah diketahui meningkatkan mortalitas serta kejadian kardiovaskular mayor. VerifyNow P2Y12 merupakan salah satu pemeriksaan yang secara spesifik menggambarkan fungsi platelet terhadap agen penghambat P2Y12 yang dikonsumsi. Hubungan antara polimorfisme CYP2C19 dengan TIMI flow pada populasi Asia, khususnya Indonesia, belum pernah dilakukan.Penelitian ini bertujuan untuk mengetahui hubungan antara polimorfisme CYP2C19 terhadap fungsi penghambatan platelet dan TIMI flow, serta hubungan antara fungsi penghambatan platelet dan TIMI flow.Dilakukan pemeriksaan polimorfisme CYP2C19 dengan menggunakan metode Taqman dan pemeriksaan fungsi penghambatan platelet yang diukur dengan VerifyNow P2Y12 pada 90 pasien IMA-EST yang menjalani IKPP yang memenuhi kriteria penelitian.Dari 90 subyek penelitian, studi polimorfisme genetik mengungkapkan 23,3% pasien dengan alel * 2, 11,2% dari * 3 alel pembawa, dan 1,1% membawa kedua alel. 24,4% pasien tergolong non-responder terhadap klopidogrel. Secara keseluruhan tidak terdapat hubungan secara langsung antara polimorfisme CYP2C19 dengan TIMI flow 3, namun terdapat hubungan antara polimorfisme CYP2C19 dengan penurunan fungsi penghambatan platelet (OR 4.7, p = 0.030). Indeks reaktivitas platelet >208 PRU meningkatkan risiko TIMI flow < 3 (OR 3.3, p= 0.046).Tidak terdapat hubungan secara langsung antara polimorfisme CYP2C19 dengan TIMI flow, namun pasien dengan polimorfisme CYP2C19*2 dan/atau *3 memiliki risiko untuk mengalami penurunan penghambatan fungsi platelet. Pasien yang tergolong non-responder terhadap klopidogrel ini juga berisiko untuk mendapatkan reperfusi miokard yang suboptimal.

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CYP2C19 polymorphism plays an important role in clopidogrel metabolism. The genetic factor is VerifyNow P2Y12 is an examination that specifically describes platelet function against P2Y12 inhibitors. It is unknown whether platelet reactivity measured by P2Y12 reaction unit (PRU) is affected by CYP2C19 polymorphism or predictive of TIMI flow in Asian populations, particularly in Indonesia. We sought to define whether polymorphisms on CYP2C19 genes and platelet reactivity may affect the myocardial perfusion.

STEMI patients who underwent primary PCI and has received 600 mg loading dose of clopidogrel were recruited for the study. We measured platelet reactivity by VerifyNow P2Y12, high platelet reactivity was defined as > 208 PRU. Genetic polymorphisms analysis to assess the presence of CYP2C19*2 and *3 alleles on each patient were performed by Taqman method.

There were 90 patients recruited for study. Genetic polymorphisms studies revealed 23.3% of patients with *2 allele, 11.2% of *3 allele carriers, and 1.1% carried both allele. 23.4% of patients were clopidogrel non-responders. Overall, there was no correlation between CYP2C19 polymorphism and TIMI flow < 3, but there was a relationship between CYP2C19 polymorphism and decreased function of platelet inhibition (OR 4.7, p = 0.030). Platelet reactivity index > 208 increased the risk of suboptimal reperfusion (OR 3.3, p = 0.046).

There is no direct relationship between CYP2C19 polymorphism and TIMI flow, but patients with CYP2C19*2 and/or CYP2C19*3 had increased risk of being clopidogrel non responders. After adjusted to confounding factors, VerifyNow > 208 PRU is associated with suboptimal myocardial reperfusion."

"Polimorfisme gen Pax9 yang telah dikenal sebagai gen yang bertanggung jawab terhadap terjadinya agenesis gigi. Penelitian terdahulu memperlihatkan adanya hubungan antara agenesis gigi dengan pertumbuhan skeletal maksila dan mandibula sehingga penelitian ini bertujuan untuk mengevaluasi asosiasi polimorfisme gen Pax9 rs8004560, rs2073245 dan rs2073246 terhadap Variasi Maloklusi Skeletal, Pertumbuhan Maksila dan Mandibula serta Agenesis Gigi. Penelitian cross-sectional dilakukan pada 150 pasien ortodontik RSKGM FKG UI dan diklasifikasikan berdasarkan maloklusi skeletal. Ekstraksi DNA dilakukan dengan sampel rambut yang kemudian genotyping dilakukan dengan polymerase chain reaction (PCR) dan Sanger Sequencing. Polimorfisme gen Pax9 rs2073245 dan rs2073246 konsisten dengan Hardy Weinberg Equilibrium. Asosiasi ditemukan pada polimorfisme Pax9 rs8004560 dengan agenesis gigi (p= 0.025, OR= 2.895, CI= 1.101-7.614). Tidak ditemukan asosiasi polimorfisme gen Pax9 pada studi ini dengan maloklusi skeletal.  Jumlah sampel yang lebih tinggi dengan sistem klusterisasi latar belakang etnis disarankan pada penelitian berikutnya untuk mendeterminasi peran gen Pax9 terhadap maloklusi skeletal pada subpopulasi Indonesia.

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Polymorphism Pax9 has been widely researched and known as a gene responsible for tooth agenesis, and recently been found associated with skeletal malocclusion. This study aimed to determine the association of gene polymorphism Pax9 rs8004560, rs2073245 and rs2073246 to skeletal malocclusion in Indonesia. Cross sectional study was performed to 150 Orthodontics patients and classified according to their skeletal malocclusion by cephalometric analysis. Genomic DNA was extracted from hair samples and then genotyped by polymerase chain reaction and Sanger sequencing. Gene polymorphism Pax9 rs2073245 and 2073246 are consistent with Hardy Weinberg Equilibrium. Significant association was found in polymorphism Pax9 rs8004560 with Tooth Agenesis (p= 0.025, OR= 2.895, CI= 1.101-7.614). There were no association between PAX9 polymorphisms assessed in this study with skeletal malocclusion. Our result suggested further research using larger sample size and clustered background ethnicity is required to determine the role PAX9 gene relate to skeletal malocclusion in Indonesian subpopulation."

"[ABSTRAKPenelitian ini bertujuan untuk menganalisis distribusi pola polimorfisme gen LEPG-2548A pada pasien dengan dan tanpa osteoporosis. Seratus sampel terdiri daripasien dengan osteoporosis (50 sampel) dan pasien tanpa osteoporosis (50sampel). Polimorfisme gen LEP G-2548A dianalisis menggunakan metode PCRRFLP.Perhitungan distribusi genotip dan alel pada kedua kelompokmenggunakan uji Fisher. Frekuensi alel A dan genotip AA gen LEP G-2548Apada pasien osteoporosis berisiko meningkat dibandingkan pada pasien tanpaosteoporosis. Genotip LEP G-2548A pada pasien dengan dan tanpa osteoporosismemiliki hubungan tidak berbeda bermakna (p = 0,191). Distribusi polapolimorfisme gen LEP G-2548A berisiko meningkat pada pasien denganosteoporosisABSTRACTThe aim of this study was to analyzed pattern distribution polymorphism LEP G-2548A in patient with and without osteoporosis.One hundred samples consist ofpatient with and without osteoporosis.Genetic polymorhism LEP G-2548A wereanalyzed by PCR-RFLP methods.The calculation of the distribution of genotypesand alleles in both groups using Fisher test.The frequency of A allele and AAgenotype LEP G-2548A gene presented increased risk in patient withosteoporosis.Statistical analysis of LEP G-2548A gene using fisher test betweenpatient with and without osteoporosis showed no significant differences(p=0,191).Distribution of leptin gene G-2548A polymorphism pattern presentedincreased risk in patient with osteoporosis;The aim of this study was to analyzed pattern distribution polymorphism LEP G-2548A in patient with and without osteoporosis.One hundred samples consist ofpatient with and without osteoporosis.Genetic polymorhism LEP G-2548A wereanalyzed by PCR-RFLP methods.The calculation of the distribution of genotypesand alleles in both groups using Fisher test.The frequency of A allele and AAgenotype LEP G-2548A gene presented increased risk in patient withosteoporosis.Statistical analysis of LEP G-2548A gene using fisher test betweenpatient with and without osteoporosis showed no significant differences(p=0,191).Distribution of leptin gene G-2548A polymorphism pattern presentedincreased risk in patient with osteoporosis, The aim of this study was to analyzed pattern distribution polymorphism LEP G-2548A in patient with and without osteoporosis.One hundred samples consist ofpatient with and without osteoporosis.Genetic polymorhism LEP G-2548A wereanalyzed by PCR-RFLP methods.The calculation of the distribution of genotypesand alleles in both groups using Fisher test.The frequency of A allele and AAgenotype LEP G-2548A gene presented increased risk in patient withosteoporosis.Statistical analysis of LEP G-2548A gene using fisher test betweenpatient with and without osteoporosis showed no significant differences(p=0,191).Distribution of leptin gene G-2548A polymorphism pattern presentedincreased risk in patient with osteoporosis]"

"Osteoporosis dapat disebabkan oleh faktor genetik, salah satunya yaitu gen LEPR. Penelitian ini bertujuan menganalisis polimorfisme gen leptin reseptor (LEPR) Q223R pada pasien dengan dan tanpa osteoporosis. Sampel dibagi dua kelompok yaitu pasien dengan osteoporosis dan tanpa osteoporosis. Polimorfisme genotip di analisis menggunakan Polymerase Chain Reaction (PCR) - Restriction Fragment Length Polymorphisms (RFLP). Distribusi pola genotip AA dan alel A LEPR Q223R menunjukkan peningkatan risiko osteoporosis. Analisis statistik dengan uji fisher exact antara pasien dengan osteoporosis dan tanpa osteoporosis menunjukkan perbedaan bermakna pada genotip (p=0.044) dan alel (p<0.05). Distribusi pola polimorfisme gen LEPR Q223R berisiko meningkat pada pasien dengan osteoporosis.

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Osteoporosis caused by genetic factor, one of which is LEPR gene. This study analyzed polymorphism leptin receptor (LEPR) Q223R in patient with and without osteoporosis. Samples were divided into two group, with osteoporosis and without osteoporosis. The polymorphism were genotyped using Polymerase Chain Reaction (PCR) ? Restriction Fragment Length Polymorphisms (RFLP) analysis. Mapping distribution of AA genotype and A Allele for LEPR Q223R presented an increased risk of osteoporosis. Statistic analysis of fisher exact test between patient with and without osteoporosis showed significant differences of genotype (p=0,044) and allele (p<0,05). Mapping distribution of polymorphism LEPR Q223R an increased risk of osteoporosis."

"Salah satu penyebab hiperbilirubinemia tidak terkonjugasi pada neonatus adalah polimorfisme Gly71Arg gen UGT1A1 yang dapat menurunkan aktivitas enzim UDP Glukoronosil Transferase UGT , sehingga angka kejadiannya cukup tinggi pada neonatus hiperbilirubinemia di daerah Asia Timur. Penelitian ini bertujuan untuk mengetahui profil polimorfisme Gly71Arg di Indonesia pada populasi ras heterogen yang termasuk bagian Asia tenggara dengan menggunakan sampel pasien neonatus yang dirawat di Rumah Sakit Cipto Mangunkusumo sebanyak 42 sampel yang lahir pada periode Januari ndash; April 2017. Data sampel neonatus berupa total serum bilirubin diperoleh dari rekam medik serta penelusuran ras orang tua pasien neonatus melalui wawancara. Analisis dilakukan menggunakan metode Polymerase Chain Reaction ndash; Restriction Fragment Length Polymorphism PCR-RFLP dengan enzim AvaII sebagai enzim restriksi. Dari 42 sampel yang dianalisis, 95,24 memiliki genotip G/G wild type dan 4,76 memiliki genotip G/A heterozigot. Tidak ditemukan satu pun sampel yang memiliki polimorfisme Gly71Arg genotip A/A homozigot. Terdapat pengaruh perbedaan intraetnik pada kelompok etnik tertentu terhadap polimorfisme Gly71Arg yaitu pada ras Betawi yang mendominasi kejadian heterozigot. Polimorfisme Gly71Arg secara keseluruhan mungkin tidak memengaruhi angka kejadian hiperbilirubinemia tidak terkonjugasi pada populasi di Indonesia tetapi mungkin dipengaruhi oleh mutasi pada ekson 1 di situs lain atau mutasi pada promotor.

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One of the risk factor of unconjugated hyperbilirubinemia in neonates is Gly71Arg polymorphism of UGT1A1 gene that can lead to reduced UDP Glucuronosyl Transferase UGT enzyme activity, so it has high incidence among neonates in East Asian population. The aim of this study, was to identify Gly71Arg polymorphism profile in Indonesia in the heterogeneous race population which is part of Southeast Asia, and 42 sample of neonates who were born in January ndash April 2017 that treated in Rumah Sakit Cipto Mangunkusumo were used. Neonatal sample data which is total serum bilirubin were obtained from medical records and tracing naonates parents race through interview. The analysis used was Polymerase Chain Reaction ndash Restriction Fragment Length Polymorphism PCR RFLP method with AvaII enzyme as restriction enzyme. From 42 samples that were analysed, 95,24 were found as G G genotype wild type, while 4,76 were G A genotype heterozygous. None of the sample has Gly71Arg polymorphism A A genotype homozygous. There is an influence of intra ethnic differences in certain ethnic groups against Gly71Arg polymorphisms, which is in the Betawi race that dominates heterozygous events. Overall, Gly71Arg polymorphism may not affect incidence of unconjugated hyperbilirubinemia in Indonesia population, yet may be affected by mutation in other site of exon 1 or mutation in promoter."

"Polimorfisme pada gen uridin difosfo UDP -glukuronosiltransferase UGT 1A1 menjadi salah satu faktor risiko terjadinya hiperbilirubinemia tidak terkonjugasi pada neonatus. Polimorfisme gen UGT1A1 dapat menurunkan aktivitas enzim UDPGT dalam konjugasi bilirubin sehingga meningkatkan jumlah bilirubin tidak terkonjugasi dan menyebabkan hiperbilirubinemia tidak terkonjugasi. Kejadian polimorfisme gen UGT1A1, terutama c-3279T>G beragam pada kelompok ras yang berbeda. Tujuan dari penelitian ini adalah untuk mengetahui profil polimorfisme c-3279T>G pada neonatus di Rumah Sakit Cipto Mangunkusumo RSCM dengan ras yang heterogen dan berat badan lahir yang berbeda. Sebanyak 42 sampel dengan total serum bilirubin ge; 5mg/dL dan lahir pada periode Januari ndash; April 2017 dianalisis menggunakan metode Polymerase Chain Reaction ndash; Restriction Fragment Length Polymorphism PCR-RFLP menggunakan enzim DraI untuk mengetahui profil polimorfisme c-3279T>G. Data rekam medik pasien neonatus diperoleh dari RSCM dan penelusuran ras dilakukan dengan wawancara orang tua pasien melalui telepon. Dari 42 sampel yang dianalisis, 95,2 memiliki polimorfisme homozigot dan 4,8 memiliki polimorfisme heterozigot. Polimorfisme c-3279T>G pada sampel tidak dipengaruhi oleh ras tertentu atau keberagaman ras di Indonesia.

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Uridine diphospho UDP glucuronocyltransferase UGT 1A1 gene polymorphisms are a risk factor of unconjugated hyperbilirubinemia in neonates. UGT1A1 gene polymorphisms can decrease the activity of UDPGT enzyme in conjugating bilirubin thus increase the number of unconjugated bilirubin and lead to unconjugated hyperbilirubinemia. UGT1A1 gene polymorphism, especially c 3279T G, diverse in different racial group. The purpose of this study is to discover the polymorphism profile of c 3279T G in neonates with unconjugated hyperbilirubinemia at Rumah Sakit Cipto Mangunkusumo RSCM with heterogenous race and different birth weight. Forty two samples born in January ndash April 2017 and have total serum bilirubin ge 5mg dL were being analyzed by Polymerase Chain Reaction ndash Restriction Fragment Length Polymorphism PCR RFLP method using DraI enzyme to find out the c 3279T G polymorphism profile. The medical records information of neonates were obtained from RSCM. Researcher interviewed the neonates rsquo parent by phone to obtain their race information. From 42 samples that have been analyzed, 95,2 have homozygote polymorphism and 4,8 have heterozygote polymorphism. C 3279T G polymorphism is not affected by certain race or diversity of races in Indonesia."