Latar belakang: Natural resistance associated machrophage protein (NRAMP) adalah pengangkut proton/ kation divalen yang memegang peranan dalam transportasi besi di fagosom. Variasi gen NRAMP1 telah dilaporkan berhubungan dengan kerentanan terhadap tuberkulosis karena Mycobacterium tuberculosis (MTb), agen kausatif dari tuberkulosis (TB), berkompetisi dengan inangnya untuk mendapatkan zat besi guna metabolisme MTb. Penelitian ini bertujuan untuk mendapatkan gambaran polimorfisme NRAMP pada pasien TB di Kupang,
Objective: Although several NPHS2 gene mutations and polymorphisms were described and associated with clinical manifestation of steroid-resistant nephrotic syndrome (SRNS), the occurrence of these genetic abnormalities or variants appeared to be influenced by race and ethnic group. We have investigated probable mutations and variants in NPHS2 gene involved in SRNS and their association with clinical manifestations. Methods: We examined 28 children with primary SRNS who visited the pediatric nephrology division of 10 teaching hospitals in Indonesia. Molecular genetic studies of the NPHS2 gene were conducted through screenings for the exon 1, exon 2, and exon 8. The mutational analysis of NPHS2 was performed by DNA sequencing. Fisher's Exact Test was used to determine the correlation between NPHS2 polymorphisms and clinical manifestations. Results: Seven females (25%) and 21 males (75%) participated in the study. The mean age of the subjects with 95% CI is: 7.6 (6.1 -9.0) years while the mean age at onset of disease with 95% CI is: 5.4 (3.9 -7.0) years. Sixteen patients (57.14%) were younger than 6 years at the onset of disease. Seventeen (60.7%) subjects had normal eGFR, while 11 (39.3%) had chronic renal insufficiency. The mean eGFR of the subjects with 95% CI is: 111.4 (87.7 -135.1) ml/min/1.73 m 2 . The mean systolic blood pressure with 95% CI is: 117.0 (108.9 -125.1) mmHg and the mean diastolic blood pressure with 95% CI is: 77.0 (70.3 -83.7) mmHg. We identified 6 NPHS2 polymorphisms, i.e. g.-52G>T, c.101A>G, g.-117C>T, c.288C>T, c.954C>T, and c.1038A>G and no mutation was found. There was no correlation between NPHS2 polymorphisms and clinical manifestations (p > 0.05). Conclusion: The results demonstrate no mutation of NPHS2 gene, and the 6 NPHS2 gene polymorphisms that were identified * Corresponding author. D. Rachmadi et al. 28 have no correlation with the clinical manifestation in Indonesian children with SRNS.
Introduction: Bacille Calmette-Guerin (BCG) vaccination remains a routine immunization in primary care in tuberculosis (TB)-endemic areas, though several studies found that its efficacy was inconclusive. Natural resistance-asociated machrophage protein 1 (NRAMP1) polymorphism has been shown to result in higher susceptibility to TB. Information on genetic susceptibility in populations will be useful in planning the application of the BCG vaccine. The present study explored BCG efficacy in a rural Timor population with specific NRAMP1 polymorphism in a TB-endemic region of eastern Indonesia. Methodology: A case-control study with 64 newly diagnosed pulmonary TB patients and 65 healthy controls was performed. BCG scars were examined by a physician. NRAMP1 polymorphism was evaluated using molecular methods. Results: Half of the subjects (65; 50.4%) had a clear presenting BCG scar on the upper arm, suggesting a successful BCG vaccination. Among the subjects, D543N NRAMP1 polymorphism, history of contact with TB patients, and not having a clear BCG scar on the upper arm tended to be significantly association with active TB. The significant differences were more profound when subjects were divided based on presenting BCG scar. Subjects without clear BCG scars had significant association with developing TB disease (p = 0.014). In multivariate analysis, history of previous contact with TB patients and unclear presenting BCG scar were associated with active TB (OR 9.2; 2.0-43.8 95% CI, OR 4.8; 2.1-11.0 95% CI, respectively). Conclusions: BCG vaccination in our population was effective for TB protection, especially in highly endemic areas of TB, regardless genetic susceptibility.
Background Several studies have identified different genes that control the final dimension and structure of the mandible. Prognathism of the mandible is thought to correlate with these genes; however, no specific gene has been assigned as a risk factor due to various genome-wide scan results in different races. Previous studies that involved the Han ethnic group in China and Korea suggested matrilin-1 (MATN1) polymorphism as the contributor for mandibular prognathism. To date, no study has been conducted to understand the role of MATN1 in Deutero-Malay population. This study aimed to detect MATN1 gene polymorphism in the promoter and exon 5 regions, which is a proposed risk factor in class III skeletal malocclusion with mandibular prognathism in Deutero-Malay population. This was a case-control study with purposive sampling method that involved 47 class III skeletal malocclusion subjects with mandibular prognathism (case group) and 47 class I skeletal relation subjects (control group) performed in the Molecular Genetics Laboratory of Faculty of Medicine, Universitas Padjadjaran, Indonesia. DNA isolated from buccal mucous epithelia and MATN1 gene was amplified using the polymerase chain reaction (PCR) and sequencing technique. Data were then analyzed statistically to observe the frequency of allele/genotype MATN1 in class III skeletal malocclusion and mandibular prognathism patients in comparison with the normal mandibular as well as to identify the risk factor of mandibular prognathism. Result The frequency of the 354 T > C(rs20566) CC genotype gene polymorphism in the case group was significantly higher than in the control group. The odd ratio (OR) value of the case group was also higher than in the control group (χ2 = 4.89; p = 0.027; OR = 6.27). Conclusions Our results show that the polymorphism of 354 T > C in the exon 5 region of the CC genotype MATN1 gene is a risk factor for class III skeletal malocclusion with mandible prognathism in Deutero-Malay population.
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