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The Relationship of Angiotensin-Converting Enzyme Gene Polymorphism Insertion/Deletion and Hypertension in Yogyakarta Population, Indonesia Aziza, Lucky; Sja’bani, Mochammad; Haryana, Sofia Mubarika; Soesatyo, Marsetyawan HNE; Sadewa, Ahmad Hamim
Journal of the Indonesian Medical Association Vol. 60 No. 4 April 2010
Publisher : Journal of the Indonesian Medical Association

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Abstract

Hypertension is one of major health problem in the world. It becomes complicated since the blood pressure (BP) still uncontrollable, including in Yogyakarta, Indonesia. The reninangiotensin system (RAS) has a central role in controlling BP and sodium homeostasis. RAS polymorphism was defined as genetic determinants of essential hypertension and end-organ damage. One of enzyme that work in RAS, which have a role on hypertension pathogenesis is angiotensin converting enzyme (ACE). ACE convert angiotensin I to angiotensin II. The act of ACE is influenced by ACE gene. In the world, there are many study about the role of ACE gene polymorphism I/D to hypertension. That studies show controversial result. The objective of this study is to evaluate the association between ACE gene polymorphism I/D and hypertension in Yogyakarta population. The method of this study is cross sectional. Sample was taken by double random sampling method from hypertension, prehypertension and normotension, was obtained 125 subjects, 97 subjects dan 108 subjects, consecutively. ACE gene polymorphism I/D was examined by PCR. This study shows significant differences of three groups (ages, body mass index (BMI), and family history of hypertension) and total cholesterol level in blood, which is tend to have greater value in the hypertension group. Frequency of genotype II, ID, DD are 85 (68%), 39(31.2%), 1(0.8%) in hypertension, 66 (61.1%), 38(35.2%), 4(3.7%) in normo-tension and 56(57.7%), 37 (38.1%), 4 (4.1%) in pre-hypertension subject, consecutively. The result of Chi- Square analysis shows statistically significant association between ID+DD vs. II genotype and hypertension. Multiple logistic regression analysis shows four variables that significantly influent to hypertension, namely ages, family history of hypertension, BMI, and ACE gene polymorphism. The conclusion of this study is ACE ID+DD genotype has significant relationship with hypertension in Mlati population, Sleman, Yogyakarta, Indonesia.Keywords: hypertension, genetic, ACE, polymorphism, insertion/deletion
Clinical Characteristics of Adult Uncorrected Secundum Atrial Septal Defect, A Pilot Study Krisdinarti, Lucia; Hartopo, Anggoro Budi; Anggrahini, Dyah Wulan; Sadewa, Ahmad Hamim; Wahab, Abdus Samik; Setianto, Budi Yuli
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 48, No 2 (2016)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (279.98 KB) | DOI: 10.19106/JMedSci004802201603

Abstract

ABSTRACTAtrial septal defect (ASD) is the most frequent congenital heart disease in adulthood. Pulmonary hypertension (PH) complicating ASD compels patients seeking medical assistance because of its disabling symptom. Most adult ASD develop PH which render significant morbidity and mortality. The aim of the study is to characterize the clinical profiles of adult patients with ASD. The study design was cross sectional. The subjects were enrolled consecutively from outpatient clinics and inpatient wards. The demography, medical and imaging data were collected and recorded in case report form. Descriptive statistics was applied to characterize the subjects. Seventy-six subjects were enrolled. The majority were women (77.6 %) in the productive and child-bearing ages (63.2%). The most common symptoms were dyspneu on effort, fatigue, and palpitation. Most subjects had functional capacity of WHO class functional II (70.2 %). The mean oxygen saturation was 96.4 %. Based on the echocardiography examination, 77.6% of subjects had suffered from PH. The mean longest diameter of defects were 2.7 cm. The direction of blood flow was mostly left to right (77.6 %). Left and right ventricle function were within normal limit. Right heart catheterization showed mean left atrial pressure 11.5 mmHg, which confirmed the precapillary or arterial PH. Mean pulmonary artery pressure was 42.0 mmHg. The pulmonary artery resistance index mostly less than 4 Wood Unit/ m2 (63.7 %), indicating the feasibility to close the defect. Whereas 24.6 % of subjects were contraindicated for closing. Pulmonary artery hypertension (PAH) was diagnosed in 77.6 % subjects, meanwhile 13.2 % had borderline PAH. In conclusion, most adult ASD patients had developed PAH, mostly young women in productive ages, mainly visited hospital due to symptom of PH, the direction of flow predominantly left to right side and mostly had reduced functional capacity.
Genetic Variation of Apolipoprotein E (ApoE) in Surabaya, Palu and Alor Populations of Indonesia Hastuti, Pramudji; Sofro, Abdul Salam Mudzakir; Asdie, Ahmad Husain; Sadewa, Ahmad Hamim
Indonesian Journal of Biotechnology Vol 16, No 2 (2011)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22146/ijbiotech.16371

Abstract

Apolipoprotein E (ApoE) has been considered to play an important role in cardiovascular disorders.Several studies reported that genetic variation in ApoE locus influence plasma lipoprotein level. The objectivesof this study was to compare the frequency of ApoE genotypes and alleles in some populations of Indonesia.One hundred and ninety five voluntarily unrelated apparently healthy individuals were recruited fromSurabaya, Palu and Alor representing the western, middle and eastern populations of Indonesia, respectively.Blood samples were collected from each subject for DNA extraction. The common allelic variants of ApoE werescreened using polymerase chain reaction (PCR) and restriction fragment length polymorphism. Three allelesi.e. ε2, ε3 and ε4 were identified and five genotypes i.e. ApoE ε2/ε2, ApoE ε2/ε3, ApoE ε3/ε3, ApoE ε2/ε4, ApoE ε3/ε4 were found in three populations studied, while ApoE ε4/ε4 was absent in Surabaya, representing the westernpopulations of Indonesia. The frequency of ε2, ε3 and ε4 alleles in the western population were 0.208, 0.701and 0.092 respectively; in the middle population were 0.242, 0.618 and 0.140 respectively and in the easternpopulation of Indonesia were 0.267, 0.466 and 0.267 respectively. The highest frequency of ε2 and ε4 allelewas found in the eastern population of Indonesia. The distribution of ε2 allele were not significantly differentamong all Indonesian populations, but significantly different were found in ε3 and ε4 allele in the easternpopulation compared to those in the western and middle populations of Indonesian. It can be concluded thatthe frequency of three ApoE alleles in the western and middle populations of Indonesia was not significantlydifferent however, significantly different was observed in the frequency of ApoE ε3 and ε4 alleles from theeastern compared to those in the western and middle populations of Indonesia.
Distal Renal Tubular Acidosis (dRTA) Among Southeast Asian Ovalocytosis (SAO) Patients in Malaria Endemic Area of Sekotong, Lombok Island Danuyanti, I Gusti Ayu Nyoman; -, Tasmini; Sadewa, Ahmad Hamim
Tropical Medicine Journal Vol 1, No 1 (2011): Tropical Medicine Journal
Publisher : Fakultas Kedokteran bekerjasama dengan PETRI

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Abstract

Introduction: Southeast Asian Ovalocytosis (SAO) is caused by 27 bp deletion of the band 3 protein gene in erythrocyte membrane and characterized by oval erythrocyte. The erythroid band 3 (AE1) gene isexpressed not only in erythrocyte membranes but also in the cell membrane of α-collecting renal tubular functions in the secretion of acid in renal tubules and HCO3 -/Cl- anion exchange. An alteration of the band 3 (AE1) gene functions in cell of α-collecting renal tubules reduces HCO3-/Cl- ion exchange resulting in decreased secretion of H+ ions and disturbances in the process of pickling urine as an indicator of distal renal tubular acidosis (dRTA).Objectives: To determine the occurrence of dRTA among Southeast Asian Ovalocytosis (SAO) patients in malaria endemic area of Sekotong, Lombok Island by analyzing expression of erythroid band 3 (AE1) gene.Methods: Ovalocytosis degree determined by oval erythrocytes morphology of 20%-100% in blood film. The 27 bp deletion of band 3 (AE1) gene was analyzed by polymerase chain reaction (PCR). An indicators of the dRTA was determined the pH of urine, levels of bicarbonate (HCO3-), potassium (K+) and chloride (Cl-) in the blood.Results: The degree of ovalocytosis more than 50% was found in 35,7% individuals and below 50% was found in 64,3% individuals. Percentage of 27 bp deletion of band 3 (AE1) gene among subject of ovalocytosispatients was 35,7% (n = 28) and frequency of the dRTA among SAO patients was 20% (n = 10). Individuals with SAO do not generally have dRTA. The presence of the two conditions in the same individuals suggests that there may be a common underlying molecular defect or genetic basis for SAO and dRTA.Conclusion: There is a relationship between the 27 bp deletion protein band 3 (AE1) gene with distal renal tubular acidosis (dRTA) among Southeast Asian Ovalocytosis (SAO) patients in Sekotong, Lombok Island, even the percentage is low.Keywords: distal renal tubular acidosis, Southeast Asian Ovalocytosis, Sekotong, (Lombok Island)
Polimorfisme Gen Ferroportin (FPN1) Q248H dan Karakteristik Sosial Ekonomi Ibu Hamil dengan Anemia di Surakarta Istiqomah, Nor; Dewi, Vitria Sari; Farmawati, Arta; Sadewa, Ahmad Hamim; Soesilo, Yuliana Heri; Damayanti, Kusumadewi Eka; Indarto, Dono
Pena Medika Jurnal Kesehatan Vol 4, No 1 (2013): Pena Medika Jurnal Kesehatan, Vol.4 No.1 Desember 2013
Publisher : Fakultas Ilmu Kesehatan Universitas Pekalongan

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Abstract

Background: Iron deficiency anemia in pregnancy remains an important health problem in Indonesia. Ferroportin (FPN1) is one of important gene in iron metabolism encodes ferroportin for iron absorption, release, and recycle inside the body. The polymorphism of FPN1 Q248H alters negative charge of the amino acid sequence positively, hence influenced its ubiquitination and degradation. Beside of that, the high prevalence of anemia not only caused by genetics, nutrition, physiology of each pregant women, but also demographic factor and sosio-economic burden of family. This research will study the polymorphism of ferroportin Q248H and demographic character in pregnant women in Surakarta. Methods: The study using descriptive analytic case-control approach. The data used were from questionaire and blood sampling whose counted for screening anemia in private laboratorium. Pregnant women who had intention and had 10-25 week in pregnant were selected to be research subject.  FPN1 Q248H polymorphism were determined using PCR-RFLP method. Analysis Chi-square dan Independent t-test used to conclude the relationship between each variable to anemic state of pregnant women in Surakarta. A p<0.05 was considered as significant. The study using decriptive analytic design method. Results: Prevalence of anemia in Surakarta is 25.7% with 80.7% have mild anemia. There was no varian in FPN1 Q248H. Majority of pregnant women in group of anaemia have demographic character like 20-25 old, multigravid, last education in High School, housewife, their income range from Rp 500.000,00 to Rp 1.000.000,00, and consume Fe tablet. The bivariat analysis show no statistical significancy of parity, maternal age, education, income, and comsumption of iron tablet to state of anaemia (p>0.05). Conclusions: The FPN1 Q248H polymorphism was not a risk factor for iron deficiency anemia in pregnant women, likewise socio-economic factors had no significant role to incidence of anemia in Surakarta. Keywords: Anemia in pregnancy, Ferroportin (FPN1) Q248H polymorphism, Socio-Economic
THE IGF-1 LEVEL OF ESRD PATIENTS AND ITS RISK FACTORS Hidayati, Titiek; Yuningtyaswari, Yuningtyaswari; Sadewa, Ahmad Hamim; Soesatyo, Marsetyawan HNE
Indonesian Journal of Urology Vol 21, No 1 (2014)
Publisher : Indonesian Urological Association

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Abstract

Objective: To identify the Insulin-like Growth Factor–1 (IGF-1) level of End Stage Renal Disease (ESRD) and non ESRD populations, and correlation between IGF-1level and ESRD incidences. Material & Method: This case study was carried out in Yogyakarta with 72 volunteers. The cases involved Chronic Kidney Disease (CKD) patients. The controls were non-CKD patients. CKD parameters were established with PERNEFRI diagnostic criteria. Comparison of IGF-1 levels between case and control groups was performed through ANOVA, with confidence level of 95%. Bivariate analysis to identify the correlation between IGF-1 plasma level, smoking status, illness history and body mass index (BMI) by determining odds ratio (OR) of individual risk factor of p < 0.05. Results: We enrolled 72 volunteers, 45 male and 27 female subjects. Of the 45 male patients, 15 CKD and 30 non CKD patients served as cases and controls, respectively. The difference in plasma IGF-1 level was detected in the case and control groups (42.01 ± 10.66 vs. 56.05 ± 24.91) (p < 0.05). The result of bivariate analysis showed passive smoking status, IGF-1 plasma level, DM history and hypertensive illness history had correlation with ESRD incidence with odds ratios of 7.88 (p < 0.005; CI: 1.6-37.5) for passive smokers, 4.3 (p < 0.05, CI: 1.36 to 13.33) for IGF-1 level, 21.5 (p < 0.05; CI) for DM history and 12.4 (p < 0.05; CI: 3.7 to 41) for hypertensive history. Conclusion: There was difference in IGF-1 plasma level between ESRD and non-ESRD patients. The IGF-1 plasma level, passive smoking status, diabetes history, and hypertensive history have correlation with ESRD incidence.Keywords: Insulin-like Growth Factor–1 level, End Stage Renal Disease, case control, odds ratio.
Mammographic Density and Estrogen Receptor α Gene Polymorphism in Javanese Women Choridah, Lina; Aryandono, Teguh; Faisal, Arif; Sadewa, Ahmad Hamim; Purnomosari, Dewajani
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 49, No 2 (2017)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1279.083 KB) | DOI: 10.19106/JMedSci004902201704

Abstract

Estrogen plays important roles in breast cancer as it binds its receptor in breast tissue. The most studied variants in estrogen receptor α encoded by ESR1 gene are the ESR1 PvuII and XbaI polymorphisms, which were associated with lower sensitivity to estrogen. We determined the proportion of ESR1 XbaI and PvuII polymorphisms in Javanese woman in Yogyakarta, Indonesia and analyzed the correlation between genetic variations with mammogram density. ESR1 XbaI and PvuII polymorphisms of 50 cases and 58 controls were identified using PCR-RFLP. Breast density was assessed based on digitizer mammograms. Quantitative analysis was performed using an interactive program based on cumulus of two thresholds. Mean of density and frequencies of SNPs were compared between cases and controls to identify the association between SNPs and cancer susceptibility. Mammographic density was significantly higher in cases (52%) than controls (0.41%) (p < 0.05). Women with one or two copies of the PvuII T allele and XbaI A allele had higher mammographic density compared with women with C and G alleles, respectively. The proportion between PP and TT genotype was not statistically significant (p > 0.05), while the proportion between AA and GG was significantly different (p < 0.05). Haplotype 2 (CG/PX) was associated with lower sensitivity to estrogen and reflects a decrease of mammographic density. These findings were consistent with other studies that showed that ESR1 polymorphisms may affect breast cancer risk through differences in breast density. 
A Novel Variant of HOXA10 gene, Ser19Cys, among Patients with Endometriosis and its Relationship with the Severity of the Disease Hutajulu, Pinda; Dasuki, Djaswadi; Sadewa, Ahmad Hamim; Utoro, Totok
Indonesian Journal of Biotechnology Vol 18, No 1 (2013)
Publisher : Universitas Gadjah Mada

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Abstract

Endometriosis is a gynecological disease associated with inherited genetic traits. HOXA10 gene whichis expressed in uterine plays an important role in the pathogenesis of endometriosis. The protein affects thedevelopment of pinopodes as a biomarker of endometrial receptivity in endometriosis.The aim of this study isto examine if there is a mutation or polymorphism within HOXA10 gene among patients with endometriosis.Thirty twopatients and 32 healthy women were recruited as subjects of this study. The exon 2 of HOXA10which covers most of coding region was amplifi ed using PCR. The presence of a mutation or polymorphismwas detected by direct seguencing. The distribution of genotype and allele was analyzed using Chi square test with p&lt;0.05 is considered as signifi cantly different. A novel heterozygous variant within exon 2 of HOXA10 which substitute an adenine into thymine was detected at base position 55. This missense alteration changed amino acid serine to cystein (Ser19Cys). Interestingly, this variant was detected in 12 endometriosis cases (38%) but none in control. Patients carry HOXA10 Ser19Cys variant were associated with dismenorea and more frequent in stage I endometriosis. The role of this variant in the function of HOXA10 protein and frequency among Indonesians need to be clarifi ed. We found a novel heterozygous HOXA10 gene variant, Ser19Cys.The genotype frequency is 38% among endometriosis patients but none in control. This variant found in patient with dismenore and endometriosis stage 1.Key words: HOXA10 gene, endometriosis, Ser19Cys polymophism
Genetic Variation of Apolipoprotein E (ApoE) in Surabaya, Palu and Alor Populations of Indonesia Hastuti, Pramudji; Sofro, Abdul Salam Mudzakir; Asdie, Ahmad Husain; Sadewa, Ahmad Hamim
Indonesian Journal of Biotechnology Vol 16, No 2 (2011)
Publisher : Universitas Gadjah Mada

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Abstract

AbstractApolipoprotein E (ApoE) has been considered to play an important role in cardiovascular disorders.Several studies reported that genetic variation in ApoE locus influence plasma lipoprotein level. The objectivesof this study was to compare the frequency of ApoE genotypes and alleles in some populations of Indonesia.One hundred and ninety five voluntarily unrelated apparently healthy individuals were recruited fromSurabaya, Palu and Alor representing the western, middle and eastern populations of Indonesia, respectively.Blood samples were collected from each subject for DNA extraction. The common allelic variants of ApoE werescreened using polymerase chain reaction (PCR) and restriction fragment length polymorphism. Three allelesi.e. &epsilon;2, &epsilon;3 and &epsilon;4 were identified and five genotypes i.e. ApoE &epsilon;2/&epsilon;2, ApoE &epsilon;2/&epsilon;3, ApoE &epsilon;3/&epsilon;3, ApoE &epsilon;2/&epsilon;4, ApoE &epsilon;3/&epsilon;4 were found in three populations studied, while ApoE &epsilon;4/&epsilon;4 was absent in Surabaya, representing the westernpopulations of Indonesia. The frequency of &epsilon;2, &epsilon;3 and &epsilon;4 alleles in the western population were 0.208, 0.701and 0.092 respectively; in the middle population were 0.242, 0.618 and 0.140 respectively and in the easternpopulation of Indonesia were 0.267, 0.466 and 0.267 respectively. The highest frequency of &epsilon;2 and &epsilon;4 allelewas found in the eastern population of Indonesia. The distribution of &epsilon;2 allele were not significantly differentamong all Indonesian populations, but significantly different were found in &epsilon;3 and &epsilon;4 allele in the easternpopulation compared to those in the western and middle populations of Indonesian. It can be concluded thatthe frequency of three ApoE alleles in the western and middle populations of Indonesia was not significantlydifferent however, significantly different was observed in the frequency of ApoE &epsilon;3 and &epsilon;4 alleles from theeastern compared to those in the western and middle populations of Indonesia.Keywords : Apolipoprotein E; genotypes; allele frequency; populations of Indonesia
Apolipoprotein E as Risk Factor for Coronary Heart Disease Hastuti, Pramudji; M Sofro, Abdul Salam; Asdie, Ahmad Husain; Sadewa, Ahmad Hamim
Indonesian Journal of Biotechnology Vol 18, No 1 (2013)
Publisher : Universitas Gadjah Mada

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Abstract

Allelic variation of apolipoprotein E (apo E) has been shown to infl uence the concentrations of total cholesterol and low density lipoprotein cholesterol (LDL-C) and considered to play a role as one of risk factors for coronary heart disease (CHD). The aim of this study was to examine the relationship between Apo E polymorphism and the risk of CHD. Blood samples were collected from 33 CHD patients in Dr. Sardjito Hospital Yogyakarta, and 38 apparently healthy control individuals in a cross sectional study. The common allelic variants of ApoE were screened employing polymerase chain reaction and restriction fragment length polymorphism. The results obtained were analyzed by t-test and signifi cantly different if p &lt;0.05 and risk factor was calculated by odd ratio. Frequency of ApoE &epsilon;2, &epsilon;2 and &epsilon;4 alleles in CHD patients were 12.1%, 69.7% and 18.2% while in controls were 18.4%, 72.4% and 9.2% respectively. Dyslipidemia condition was a strongrisk factor for CHD. By controlling lipid profi le and applying multifactorial statistic analysis, it was shown that &epsilon;4 gene carrier was the risk factor for CHD, but not in triglyceride level, whereas &epsilon;2 carrier gene was not the risk factor for CHD. Dislipidemia was the risk factor for CHD and ApoE &epsilon;4 gene carrier was the risk factor for CHD.Key words: apolipoprotein E, ApoE &epsilon;4 gene carrier, coronary heart disease, dyslipidemia.
Co-Authors . Mustofa . Sunarti Abdul Salam M Sofro, Abdul Salam Abdul Salam Mudzakir Sofro, Abdul Salam Mudzakir Ahmad Husain Asdie Akhmad Kharis Nugroho Anggoro Budi Hartopo Anggrahini, Dyah Wulan Arta Farmawati Aryandono, Teguh Atmaja, Ratih Feraritra Danu Awal Prasetyo Bambang Hariono Budi Yuli Setianto Choridah, Lina Dewajani Purnomosari, Dewajani Didik Setyo Heriyanto, Didik Setyo Djaswadi Dasuki Dono Indarto Emy Huriyati, Emy Faisal, Arif Faisal, Arif Hadi, Cahyono HERNAYANTI HERNAYANTI Hexa Apriliana Hidayah I Gusti Ayu Nyoman Danuyanti Icanervilia, Ajeng Viska Ikhsan, M. Robikhul Ikhsan, Mohammad Robikhul Imran Imran Indwiani Astuti INNA NARAYANI Jenny Hidayat Krisdinarti, Lucia Kusumadewi Eka Damayanti Lucky Aziza Lukman Hakim Maharini, Fransisca Shinta Mantik Astawa, Mantik Maria Dara Novi Handayani, Maria Dara Novi Marsetyawan HNE Soesatyo Mochammad Sja’bani Mrs Hernayanti Nor Istiqomah Nurtjahjo Dwi Sasongko Pinda Hutajulu, Pinda Pramana, Abrory Agus Cahya Pramudji Hastuti, Pramudji Prasetyastuti, . Rasmaya Niruri Rina Susilowati Rochadi Rochadi, Rochadi Rubi, Dianandha Septiana Sabirin, Rahmaningsih Mara Saryono Saryono Setyo Purwono Sofia Mubarika Haryana Sofro, Abdul Salam M. Sri Sutarni Subagus Wahyuono Sukarti Moeljopawiro Sulistyonigrum, Dian Caturini Sunarto Ang Tasmini - Titiek Hidayati Totok Utoro Umarghanies, Sarah Safira Utami, Rizki Fajar Vitarani Dwi Ananda Ningrum, Vitarani Dwi Ananda Vitria Sari Dewi Wahab, Abdus Samik Waode Astria Sahrani, Waode Astria Wasilah Rochmah wayan T Artama Wayan Tunas Artama Wiryatun Lestariana, Wiryatun Yuliana Heri Soesilo Yuliani, Fara Silvia Yunilistiaingsih, Yunilistiaingsih Yuningtyaswari Yuningtyaswari Zakaria, Iskandar Zullies Ikawati