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"Polimorfisme gen reseptor vitamin D (RVD) merupakan kandidat genetik yang dapat menjelaskan rentannya suatu populasi terhadap tuberkulosis. Namun, hingga kini, sejumlah penelitian yang mencoba membuktikan hal tersebut menunjukkan hasil bervariasi pada berbagai populasi. Studi ini merupakan studi kasus-kontrol yang mengikutsertakan 35 pasien pascatuberkulosis paru (14 laki-laki dan 21 perempuan, median usia 40) serta 35 kontrol serumah (14 laki-laki dan 21 perempuan, median usia 39) yang tinggal di Nusa Tenggara Timur, salah satu provinsi di Indonesia dengan prevalensi tuberkulosis paru yang tinggi. Polimorfisme genetik diperiksa melalui metode polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) dengan menggunakan enzim restriksi BsmI dari sampel darah yang diisolasi dan ditambahkan EDTA. Sebaran frekuensi genotipe BsmI RVD pada kelompok kasus adalah BB=9 (26%), Bb=24 (69%), dan bb=2 (5%) sementara pada kelompok kontrol adalah BB=5 (14%), Bb=25 (72%), dan bb=5 (14%) dengan p=0,232 (OR 2,07, IK 95% 0,62-6,98). Distribusi frekuensi alel pada kelompok kasus adalah B=42 (60%) dan b=28 (40%) sementara pada kelompok kontrol adalah B=35 (50%) dan b=35 (50%). Frekuensi alel varian (alel b) pada penelitian ini adalah 0,45. Distribusi genotipe pada penelitian ini tidak memenuhi persamaan Hardy-Weinberg. Sebagai kesimpulan, penelitian ini tidak menunjukkan adanya hubungan antara polimorfisme gen RVD terhadap kejadian tuberkulosis paru. ......Vitamin D receptor gene (VDR) polymorphism is a genetic candidate which may explain the susceptibility of tuberculosis (TB) in a single population. However, until now, some studies which had tried to prove this showed varied results in different populations. This is a case-control study involving 35 post pulmonary tuberculosis patients (14 males and 21 females, median age 40) and 35 healthy household controls (14 males and 21 females, median age 39) who dwelled in East Nusa Tenggara, one of the provinces in Indonesia with high prevalence of pulmonary tuberculosis. The genetic polymorphism was examined using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method with BsmI restriction enzyme from EDTA added-isolated blood sample. The distribution of VDR BsmI genotype frequency in case group was BB=9 (26%), Bb=24 (69%), and bb=2 (5%) whereas in control group was BB=5 (14%), Bb=25 (72%), and bb=5 (14%) with p=0.232 (OR 2.07, 95% CI 0.62-6.98). Furthermore, the distribution frequency of allele in case group was B=42 (60%) and b=28 (40%) whereas in control group was B=35 (50%) and b=35 (50%). Frequency of variant allele in this study was 0.45. Genotype distribution in this study did not meet the Hardy-Weinberg equilibrium. As conclusion, this study did not show any association between VDR gene polymorphism and pulmonary tuberculosis."

"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."