scholarly journals Synergistic effect of genetic polymorphisms in TLR6 and TLR10 genes on the risk of pulmonary tuberculosis in a Moldavian population

2021 ◽  
pp. 175342592110299
Author(s):  
Alexander Varzari ◽  
Igor V. Deyneko ◽  
Elena Tudor ◽  
Harald Grallert ◽  
Thomas Illig

Polymorphisms in genes that control immune function and regulation may influence susceptibility to pulmonary tuberculosis (TB). In this study, 14 polymorphisms in 12 key genes involved in the immune response ( VDR, MR1, TLR1, TLR2, TLR10, SLC11A1, IL1B, IL10, IFNG, TNF, IRAK1, and FOXP3) were tested for their association with pulmonary TB in 271 patients with TB and 251 community-matched controls from the Republic of Moldova. In addition, gene–gene interactions involved in TB susceptibility were analyzed for a total of 43 genetic loci. Single nucleotide polymorphism (SNP) analysis revealed a nominal association between TNF rs1800629 and pulmonary TB (Fisher exact test P = 0.01843). In the pairwise interaction analysis, the combination of the genotypes TLR6 rs5743810 GA and TLR10 rs11096957 GT was significantly associated with an increased genetic risk of pulmonary TB (OR = 2.48, 95% CI = 1.62–3.85; Fisher exact test P value = 1.5 × 10−5, significant after Bonferroni correction). In conclusion, the TLR6 rs5743810 and TLR10 rs11096957 two-locus interaction confers a significantly higher risk for pulmonary TB; due to its high frequency in the population, this SNP combination may serve as a novel biomarker for predicting TB susceptibility.

2020 ◽  
Author(s):  
Alexander M. Varzari ◽  
Igor V. Deyneko ◽  
Elena Tudor ◽  
Harald Grallert ◽  
Thomas Illig

Abstract BACKGROUND Host immunity is essential for efficient recognition and clearance of M. tuberculosis infection. Polymorphisms in genes that regulate immune response have been reported to influence the susceptibility/resistance to pulmonary tuberculosis (TB). Here we evaluated associations between 14 polymorphisms in 12 core genes involved in immune responses and pulmonary TB in Moldavian population, and investigated whether interactions between these and previously analyzed polymorphisms could exist and modulate the risk of pulmonary TB. METHODS Polymorphisms VDR rs7975232, VDR rs1544410, VDR rs2228570, MR1 rs1052632, TLR1 rs5743618, TLR2 rs111200466, TLR10 rs11096957, SLC11A1 rs2276631, IL1B rs1143643, IL10 rs1800896, IFNG rs2430561, TNF rs1800629, IRAK1 rs1059703, and FOXP3 rs2232365 were genotyped in 271 Moldavian pulmonary TB cases and 251 community-matched healthy controls. Associations were tested using Fisher test and logistic regression. Complemented with the data from our previous study (PMID: 30529560), investigation of gene-gene interactions was performed for a total of 43 loci. Significance level was adjusted by the Bonferroni correction. RESULTS Single polymorphism analysis revealed a nominal association between TNF rs1800629 and pulmonary TB (Fisher exact test p-value = 0.01843). Marginal differences between cases and controls were observed for haplotypes in the gene cluster TLR1-TLR6-TLR10 and gene TLR2. In the pairwise interaction analysis, the combination of genotypes TLR6 rs5743810 GA and TLR10 rs11096957 GT was significantly associated with an increased genetic risk of pulmonary TB (OR = 2.48, 95% CI = 1.62–3.85; Fisher exact test p-value = 1.5 × 10− 5, significant after Bonferroni correction). CONCLUSION The TLR6 rs5743810 and TLR10 rs11096957 two-locus interaction confers a significantly higher risk for pulmonary TB and has potential as a novel biomarker for predicting TB susceptibility.


2020 ◽  
Author(s):  
Alexander Varzari ◽  
Igor V. Deyneko ◽  
Elena Tudor ◽  
Harald Grallert ◽  
Thomas Illig

Abstract BACKGROUND: Host immunity is essential for efficient recognition and clearance of M. tuberculosis infection. Polymorphisms in genes that regulate immune response have been reported to influence the susceptibility/resistance to pulmonary tuberculosis (TB). Here we evaluated associations between 14 polymorphisms in 12 core genes involved in immune responses and pulmonary TB in Moldavian population, and investigated whether interactions between these and previously analyzed polymorphisms could exist and modulate the risk of pulmonary TB.METHODS: Polymorphisms VDR rs7975232, VDR rs1544410, VDR rs2228570, MR1 rs1052632, TLR1 rs5743618, TLR2 rs111200466, TLR10 rs11096957, SLC11A1 rs2276631, IL1B rs1143643, IL10 rs1800896, IFNG rs2430561, TNF rs1800629, IRAK1 rs1059703, and FOXP3 rs2232365 were genotyped in 271 Moldavian pulmonary TB cases and 251 community-matched healthy controls. Associations were tested using Fisher test and logistic regression. Complemented with the data from our previous study (PMID: 30529560), investigation of gene-gene interactions was performed for a total of 43 loci. Significance level was adjusted by the Bonferroni correction.RESULTS: Single polymorphism analysis revealed a nominal association between TNF rs1800629 and pulmonary TB (Fisher exact test p-value = 0.01843). Marginal differences between cases and controls were observed for haplotypes in the gene cluster TLR1-TLR6-TLR10 and gene TLR2. In the pairwise interaction analysis, the combination of genotypes TLR6 rs5743810 GA and TLR10 rs11096957 GT was significantly associated with an increased genetic risk of pulmonary TB (OR = 2.48, 95% CI = 1.62–3.85; Fisher exact test p-value = 1.5 x 10-5, significant after Bonferroni correction).CONCLUSION: The TLR6 rs5743810 and TLR10 rs11096957 two-locus interaction confers a significantly higher risk for pulmonary TB and has potential as a novel biomarker for predicting TB susceptibility.


2017 ◽  
Vol 8 (1) ◽  
pp. 585
Author(s):  
Radita Ikapratiwi ◽  
Indah Rahmawati ◽  
Joko Mulyanto

Tuberculosis (TB) is considered as the leading killer among infectious diseases because of bacteria resulted in a high number ofmorbidity and mortality world wide. One risk factor for tuberculosisis diabetes mellitus (DM). The prevalence of TB and DM jump together globally, especially in developing countries, including Indonesia. Early and accurate diagnosis of TB cases in the enforcement is sputum smear examination. Monitoring of TB seen through sputum conversion. The purpose of this studyis to determine the duration of sputum conversion difference new case smear positive pulmonary TB patients with and without DM in hospital Prof. Dr.Margono Soekarjo (RSMS) Purwokerto. Thestudy design is observational analytic with cohort retrospective study. Sample of this study was patients who checked their health in Lung Clinis of RSMS Purwokerto obtained total sample of 44 people, consisting of 22 patients clinically diagnosed new cases smear-positive pulmonary TB with DM and 22 patients without DM in 2009 until 2012.Results of this study were analyzed using Fisher Exact Test. pvalues obtainedof 0.000 (p <0.05) (95% CI = 0,288-0,718) with relative risk 0,455. The conclusion is there were significant differences in sputum conversion time between the group of patients suffering from pulmonary uberculosis with and without DM. The conversion of sputum in patients with pulmonary tuberculosis who suffered DM is longer than patients without DM. Relative risk value which is equal to 0.455 which means that patients with DM have pulmonary tuberculosis risk by 0.455 times more likely to experience delays in sputum conversion than TB patients without DM


2018 ◽  
Vol 33 (4) ◽  
pp. 252-259
Author(s):  
Nana Chikhladze ◽  
Nino Tebidze ◽  
Tamar Chabukiani ◽  
Nana Chabukiani ◽  
Nikoloz Chkhartishvili ◽  
...  

Introduction: In developing a model of palliative care, the attitudes, needs, and requirements of its beneficiaries recognizing the limited remaining life expectancy need to be met. We aimed to map and compare these issues at the end of life in the groups of patients with advanced cancer and elderly individuals. Materials and Methods: The prospective study based on the analysis of semistructured interviews was conducted. Fifty individuals aged older than 85 and 50 incurable patients with advanced cancer were studied. Transcripts of interviews were analyzed qualitatively (the interviews were divided into logically completed themes, and the compliance of each with one of the levels of Abraham Maslow pyramid was determined) and quantitatively (data comparisons of 2 groups were tested in bivariate analysis using Pearson χ2 or Fisher exact test. Two-sided significance tests were used; P value of <.05 was deemed significant). Results: It was assumed that 120 themes were relevant to a certain level of Maslow pyramid. Their comparison showed small differences in the narratives of the patients with advanced cancer and elderly individuals aged 85 and older—concerning the past, present, and future terms of lives. In studied themes explicitly prevail the stories that are consistent with satisfaction of the upper levels of the hierarchy of needs and demands of Maslow: social relation (belonging), love, esteem, and transcendence. Conclusion: The attitudes, needs, and requirements at the end of life of the people are basically similar, regardless of what determined the sense of limitation of the remaining life—incurable disease or advanced age.


2019 ◽  
Vol 18 (4) ◽  
pp. 703-705
Author(s):  
EM Sutrisna ◽  
Ratna Yuliani

Background: Many putative genes were predicted as risk factors of schizophrenia. One of these genes is DTNBP1 gene. One of single nucleotide polymorphism (SNPs) of DTNBP1 gene is P1635 (rs3213207). Objective: This study aimed to find out the association between DTNBP1 gene, P1635 (rs3213207), and risk of schizophrenia. Methods: DNA was isolated from blood of 25 schizophrenia patients and 25 healthy controls. DNA was applied to restriction fragment length polymorphism polymerase chain reaction (RFLP PCR). PCR products were digested by BSr1 enzyme. Results: The results show that there are 24 AA genotype (wild type) from 25 Javanese schizophrenia patients and 1 GG homozygote, while all 25 of controls are AA genotype (wild type). The p value of Fisher’s exact test is 0,500. Conclusion: There is no significant differences of genotype distribution of SNP P 1635(rs3213207) between schizophrenia patients and healthy controls in Javanese population Bangladesh Journal of Medical Science Vol.18(4) 2019 p.703-705


2014 ◽  
Vol 80 (7) ◽  
pp. 2125-2132 ◽  
Author(s):  
Narjol Gonzalez-Escalona ◽  
Ruth Timme ◽  
Brian H. Raphael ◽  
Donald Zink ◽  
Shashi K. Sharma

ABSTRACTClostridium botulinumis a genetically diverse Gram-positive bacterium producing extremely potent neurotoxins (botulinum neurotoxins A through G [BoNT/A-G]). The complete genome sequences of three strains harboring only the BoNT/A1 nucleotide sequence are publicly available. Although these strains contain a toxin cluster (HA+OrfX−) associated with hemagglutinin genes, little is known about the genomes of subtype A1 strains (termed HA−OrfX+) that lack hemagglutinin genes in the toxin gene cluster. We sequenced the genomes of three BoNT/A1-producingC. botulinumstrains: two strains with the HA+OrfX−cluster (69A and 32A) and one strain with the HA−OrfX+cluster (CDC297). Whole-genome phylogenic single-nucleotide-polymorphism (SNP) analysis of these strains along with other publicly availableC. botulinumgroup I strains revealed five distinct lineages. Strains 69A and 32A clustered with theC. botulinumtype A1 Hall group, and strain CDC297 clustered with theC. botulinumtype Ba4 strain 657. This study reports the use of whole-genome SNP sequence analysis for discrimination ofC. botulinumgroup I strains and demonstrates the utility of this analysis in quickly differentiatingC. botulinumstrains harboring identical toxin gene subtypes. This analysis further supports previous work showing that strains CDC297 and 657 likely evolved from a common ancestor and independently acquired separate BoNT/A1 toxin gene clusters at distinct genomic locations.


2021 ◽  
Vol 6 (2) ◽  
pp. 111
Author(s):  
Hepti Muliyati ◽  
Menis Mbali ◽  
Hadidja Bando ◽  
Riana Pangestu Utami ◽  
Opyn Mananta

Wasting on children is an important public health problem because of its considerable impact on their health and growth. This problem could lead to iron deficiency which could induce infection disease and probably lower a child’s intelligence as a long-term effect. This study aimed to analyze factors related to wasting on 12-59 months children in Bulili Public Health Center (PHC), Palu City. The analytical descriptive study designed with a cross-sectional approach was applied in this study. One hundred and twenty-one subject was selected from 283 children with purposive sampling technique. Data were analyzed with chi-square and Fisher exact test with significant (p < 0,05). The result showed that most children with low birth weight experienced wasting with a p-value = 0,000. Most of the children from higher-income families did not experience wasting with a p-value = 0,004. Most children who didn’t receive breastfeeding milk did not experience wasting with a p-value = 0,958. This study concluded a correlation between low birth weight and income to wasting, but breastfeeding practice was not related.


Author(s):  
Dewi Pusparani Sinambela ◽  
St. Hateriah

Latar Belakang: Lama Kala II dalam persalinan yaitu jangka waktu mulai dari serviks berdilatasi penuh sampai dengan kelahiran bayi tidak boleh melebihi 2 jam pada primigravidan dan 1 jam pada multigravida. Pemilihan posisi melahirkan sangat dianjurkan untuk memberikan rasa nyaman pada ibu, posisi dapat membantu penurunan janin ke dasar panggul dan mempercepat proses persalinan. Dari data yang diperoleh bulan Januari 2018 jumlah persalinan kala II lama sebanyak 0,30% dari 240 persalinan normal.Tujuan: Menganalisis Perbedaan Posisi Meneran Miring Kiri dan Setengah Duduk Pada Ibu Bersalin Dengan Lama Kala II.Metode: Jenis penelitian ini adalah Analisis kuantitatif. Rancangan penelitian menggunakan quasi eksperiment. Populasi penelitian semua ibu bersalin di RSUD Dr. H. Moch Anshari Saleh Banjarmasin. Pengambilan sebanyak 30 responden. Pengambilan data dilakukan dengan menggunakan ceklist. Analisa data yang dilakukan adalah Analisa Univariat dan Analisa Bivariat dengan uji Fisher Exact Test.Hasil: Responden yang menggunakan posisi meneran miring kiri 15 orang (50%) dan setengah duduk sebanyak 15 orang (50%). Jumlah responden primipara yang mengalami persalinan kala II 60 menit sebanyak 12 orang (40,0%), primipara yang mengalami kala II 60 menit sebanyak 2 orang (6,7%) dan responden multipara yang mengalami kala II 30 menit sebanyak 16 orang (53,3%), multipara yang mengalami kala II 30 menit sebanyak 0 orang (0%) dari hasil uji Fisher Exact Test dengan nilai p sebesar 0,483.Simpulan: Tidak ada perbedaan posisi miring kiri dengan posisi setengah duduk terhadap kemajuan persalinan kala II di RSUD Dr. H. Moch. Anshari Saleh Banjarmasin. Kata Kunci: Lama Kala II, Persalinan, Posisi Meneran.   Analysis of Different Left and Half Posisition Straining on Mother with Second Duration of Labour In RSUD Dr. H. Moch Anshari Saleh BanjarmasinABSTRACT Background: The duration of second stage of labor is the period from the full dilated cervix to the birth of the baby should not exceed 2 hours in primigravida and 1 hour in multigravida. Position selection is very beneficial for giving comfort to the mother, the position can help lower the fetus to the pelvic floor and improve labor. From the data obtained in January 2018 the number of prolonged second stage deliveries was 0.30% of 240 normal deliveries.Objective: Analyze the Differences in Position Meniring Left and Half Seated at the Maternity with Long Time II.Method: This type of research is quantitative analysis. The study design used quasi experiment. The study population of all mothers giving birth at Dr. RSUD H. Moch Anshari Saleh Banjarmasin. Taking as many as 30 respondents. Data retrieval is done using a checklist. Data analysis performed was Univariate Analysis and Bivariate Analysis with Fisher Exact Test.Results: Respondents who used the left oblique piercing position were 15 people (50%) and half sat as many as 15 people (50%). The number of primiparous respondents who increased labor at second time 60 minutes was 12 people (40.0%), primipara who added second stage 60 minutes as many as 2 people (6.7%) and multiparous respondents who used second time 30 minutes as many as 16 people (53.3%), multiparas who replaced time II 30 minutes as many as 0 people (0%) from the results of the Fisher Exact Test with a p value of 0.483.Conclusion: There was no difference in left oblique position with sitting position towards the progress of second stage labor in Dr. Hospital. H. Moch. Ansari Saleh Banjarmasin.  Keywords : Second Duration, Labour, Straining Position 


2020 ◽  
Vol 9 (1) ◽  
pp. 34-42
Author(s):  
Alvian Merza Radi Putra ◽  
Melania Wahyuningsih ◽  
Fajarina Lathu

Diare lebih dominan menyerang anak-anak karena daya tahan tubuh anak-anak yang masih lemah. Faktor penyebab diare pada anak salah satunya pemberian MP-ASI oleh ibu. Dalam praktiknya pengetahuan ibu tentang pemberian MP-ASI masih minim. Tujuan dari penelitian ini adalah untuk mengetahui hubungan tingkat pengetahuan ibu tentang pemberian MP-ASI dengan kejadian diare pada anak usia 6-24 bulan Di Posyandu Padukuhan Pugeran Maguwoharjo Depok Sleman Yogyakarta. Jenis penelitian yaitu kuantitatif observasional analitik dengan rancangan penelitian Cross Sectional. Populasi penelitian ini ibu yang memiliki anak usia 6-24 bulan berjumlah 41 bulan Juli 2019 di Padukuhan Pugeran Maguwoharjo Depok Sleman Yogyakarta. Teknik Sampling menggunakan total sampling. Instrumen pengambilan data berupa kuisioner. Analisa data menggunakan Fisher Exact Test. Hasil menunjukkan ibu yang memiliki pengetahuan baik 28 orang (68,3%) sedangkan yang berpengetahuan cukup sebanyak 13 orang (31,7%). Anak yang tidak pernah mengalami diare dalam kurun waktu 3 bulan terakhir sebanyak 29 anak (70,7%) dan yang pernah mengalami diare dalam kurun waktu 3 bulan terakhir sebanyak 12 anak (29,3%). Didapatkan hasil nilai p value sebesar 0,419. Tidak ada hubungan antara tingkat pengetahuan ibu tentang MP- ASI dengan kejadian diare pada anak usia 6-24 bulan di Padukuhan Pugeran Maguwoharjo Depok Sleman Yogyakarta.


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