Polymorphisms in NAT2 (N-acetyltransferase 2) gene in patients with systemic lupus erythematosus

Santos, Elaine Cristina Lima dos; Pinto, Augusto Eduardo Miranda; Klumb, Evandro Mendes; Macedo, Jacyara Maria Brito

doi:10.1016/j.rbre.2016.09.015

Cited by 7 publications

(5 citation statements)

References 35 publications

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“…The most prevalent variant in our study is G590A (55.4%), while study in Brazil is G857A. (15) The distribution of the most prevalent NAT2 haplotypes in our study are the wild type NAT2*4 (21.5%), haplotype NAT2*6B (25.8%) and NAT2*6A (12.7%) ( Table 3); and the acetylator status among SLE patients from Bandung fast acetylator (22.7%), intermediate (61.5%) and slow (14.3%). Slow acetylator may have impacted the TB therapy with the development of drug induced liver injury (DILI) or hepatotoxicity, as confirmed by several studies across population.…”

Section: Discussionmentioning

confidence: 47%

N-Acetyltransferase 2 (NAT2) Acetylator Status among Systemic Lupus Erythematosus Patients from A Tuberculosis Endemic Area in Bandung, Indonesia

et al. 2019

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BACKGROUND: Systemic lupus erythematosus (SLE) patients living in Indonesia are prone to tuberculosis (TB) infection, since this country ranks second globally for TB prevalence. Isoniazid, an anti-tuberculosis (TB) drug, is metabolized by enzyme N-acetyltransferase 2 (NAT2) that is encoded by NAT2 gene. NAT2 haplotype, referring as acetylator status, may predispose as genetic factor in SLE development or complicate SLE therapy. This study explored the NAT2 haplotypes and acetylator status among SLE patients living in a TB endemic area.METHODS: Genomic DNA of 260 registered SLE patients at The Rheumatology Clinic of Dr. Hasan Sadikin General Hospital, Bandung, Indonesia were isolated. NAT2 gene was amplified and sequenced, then NAT2 haplotypes and the acetylator status among SLE patients with or without TB history were determined and presented.RESULTS: Most of SLE patients registered were female (n=250; 96.2%). The median age of patients when SLE was diagnosed for the first time was 27 years old (8-69 years), with organ involvement predominantly in musculoskeletal (80.8%) and mucocutaneous (73.1%). TB history, mostly pulmonary TB, was present in 23.1% of SLE patients of whom TB was diagnosed before SLE (10.4%) or after SLE (10.7%) or both before and after SLE (2%). The acetylator status was mostly intermediate (61.5%) with the NAT2*4/*6B was the most prevalent haplotype (25.8%).CONCLUSION: There is a high number of intermediate and low acetylator status among SLE patients. Since these SLE patients live in TB endemic area, the NAT2 acetylator status determination among SLE patients before starting TB therapy may have clinical benefit to decrease a possible drug induced liver injury, and this warrants further study.KEYWORDS: NAT2, acetylator, systemic lupus erythematosus, tuberculosis

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Section: Discussionmentioning

confidence: 47%

N-Acetyltransferase 2 (NAT2) Acetylator Status among Systemic Lupus Erythematosus Patients from A Tuberculosis Endemic Area in Bandung, Indonesia

et al. 2019

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“…NAT2 variants have been widely studied to assess their distribution among different ethnic groups, which can also be related to the exposure to different environmental factors, and their association with a wide range of diseases, including those of autoimmune origin. [ 20 ] Song et al [ 21 ] found that the NAT2 rs1041983 polymorphism is associated with nonsyndromic orofacial clefts for the first time. A study by Santos et al [ 13 ] reported that the presence of the NAT2 rs1799929CT allele is significantly higher in cases with congenital NSCL/P.…”

Section: Discussionmentioning

confidence: 99%

Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate

Yan

Song²,

et al. 2017

Medicine

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Background:Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common orofacial congenital anomaly. The objective of the present study was to analyze the association of single nucleotide polymorphisms (SNPs) in the NAT2 and EGF61genes with NSCL/P in a Chinese population.Methods:The frequencies of NAT2 (rs1799929)and EGF61 (rs4444903) gene variations were examined in a group of 285 NSCL/P patients and in 315 controls. Peripheral venous blood samples were collected for DNA extraction. Genotyping of the 2 SNPs was carried out using a mini sequencing (SNaPshot) method. Data were analyzed using the chi-square test.Results:We found a significant association between the EGF61 (rs4444903) and NSCL/P (P = .01) genes.Conversely, NAT2 (rs1799929) was not significantly different between the cases and the control group.The genotype frequencies of rs4444903GA showed a significant difference compared with GG genotype as a reference (odds ratio = 0.59; 95% confidence interval: 0.42–0.84, P = .01).Conclusion:Our study showed that the EGF61 rs4444903GA genotype had a decreased risk of NSCL/P. Our data provides further evidence regarding the role of EGF61 variations in the development of NSCL/P in families of the studied populations.

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“…Involvement of such genes as interferon-regulating factor 5 (T-receptors' signals), gene encoding protein 1, rich in H-leucine, which is repeated (gene for N-leucine-rich-repeat protein -NALP1), interferoninduced helicase C domain 1 gene -1990760 (interferoninduced helicase 1 rs1990760 -IFIH1 rs1990760), N-acetyltransferase 2 gene (N-acetyltransferase 2 -NAT2) was also confirmed. Interferon is thought to be important in the pathogenesis of SLE as well [73,76,79,80,121,126].…”

Section: Methodsmentioning

confidence: 99%

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2021

Lʹviv. klin. visn.

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Оригінальні дослідженняdrug treatment in patients of the control group there was a significant clinical and functional improvement, though sinus tachycardia, ventricular extrasystole of high grades and supraventricular extrasystole remained resistant to treatment. There was also a pronounced endothelial vascular dysfunction, which in the process of standard treatment in patients of the control group did not reach the level of healthy individuals (p < 0.05).Conclusions. In patients with acute MI with comorbid MS, who underwent balloon angioplasty and stenting of the infarct-dependent coronary artery, a pronounced vascular endothelial dysfunction and electrical instability is observed, accompanied by reperfusion arrhythmias and arrhythmias. The use of arginine-carnitine mixture as upstream therapy helped to restore endothelial function and showed a pronounced antiarrhythmic effect, which significantly reduced the incidence and severity of complications of acute MI such as reperfusion arrhythmias.

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Polymorphisms in NAT2 (N-acetyltransferase 2) gene in patients with systemic lupus erythematosus

Cited by 7 publications

References 35 publications

N-Acetyltransferase 2 (NAT2) Acetylator Status among Systemic Lupus Erythematosus Patients from A Tuberculosis Endemic Area in Bandung, Indonesia

N-Acetyltransferase 2 (NAT2) Acetylator Status among Systemic Lupus Erythematosus Patients from A Tuberculosis Endemic Area in Bandung, Indonesia

Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate

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