NAT2 gene polymorphisms and endometriosis risk: A PRISMA-compliant meta-analysis

Abstract

ObjectiveEndometriosis is a common chronic, gynecological disease. Despite many studies on the role of N-acetyltransferase 2 (NAT2) in endometriosis, its clinical significance is unclear. In this study, associations between NAT2 phenotypes as well as single nucleotide polymorphisms (SNPs) within NAT2 (i.e. rs1799929, rs1799930, rs1208, and rs1799931) and endometriosis risk were evaluated using a meta-analysis approach.MethodsEmbase, PubMed, ClinicalTrials.gov, CNKI (China National Knowledge Infrastructure), Wanfang databases, Cochrane Library for clinical trials, and Web of Science were searched to identify relevant articles. ORs (odds ratios) and 95% CIs (95% confidence intervals) were used to estimate the associations between NAT2 polymorphisms and endometriosis risk. Heterogeneity among included studies was also assessed. In addition, a subgroup analysis of NAT2 phenotypes and endometriosis risk based on ethnicity was performed.ResultsNine case-control studies met the inclusion criteria. The odds ratio was 2.30 (95% CI: 1.61–3.28) for the NAT2 slow acetylation phenotype versus the intermediate + fast acetylation phenotype in the Asian population. These results suggest that Asian individuals with the NAT2 slow acetylation phenotype have a 130% increased risk of endometriosis. A significant association was also found for rs1799930 (OR = 0.74; 95% CI, 0.59–0.92), suggesting that individuals with this mutant genotype have a 26% decreased risk of endometriosis.ConclusionsThe rs1799930 mutant genotypes are associated with a decreased risk of endometriosis. No statistically significant associations were found between rs1799931, rs1208, or rs1799929 and endometriosis. Based on a subgroup analysis based on ethnicity, the NAT2 slow acetylation phenotype was found to increase the risk of endometriosis in Asians. No statistically significant associations were found between the NAT2 slow acetylation phenotype and endometriosis risk in Caucasians. Accordingly, NAT2 phenotypes and SNPs are potential biomarkers for the diagnosis and treatment of endometriosis.

Association Between NAT2 Polymorphism and Lung Cancer Risk: A Systematic Review and Meta-Analysis

“…We first evaluated the pooled ORs of the primary model (slow + intermediate phenotype vs . rapid phenotype) ( 8 ). Then, we evaluated the pooled ORs of the recessive model (slow phenotype vs .…”

“…Then, we evaluated the pooled ORs of the recessive model (slow phenotype vs . intermediate + rapid phenotype) ( 8 ). In addition, the pooled ORs of slow vs .…”

“…rapid phenotype, and slow vs . rapid phenotype were also estimated ( 8 ). We used χ²-based Q statistical to test heterogeneity.…”

“…More than 27 variants or combinations of single nucleotide polymorphisms (SNPs) have been found in NAT2 ( 7 ). Different SNPs combinations can produce different alleles, resulting in NAT2 slow, intermediate, and rapid acetylation phenotype ( 8 ). The alleles of NAT2 and the corresponding phenotype can be found on the authoritative NAT2 organization website “ .” NAT2, individuals homozygous for rapid alleles, such as NAT2*4, NAT2*11A, NAT2*12A, NAT2*12B, NAT2*12C, NAT2*13, are identified as rapid genotype ( 9 ).…”

Influence of the NAT2 gene polymorphic markers on the effectiveness and safety of treatment in patients with newly diagnosed pulmonary tuberculosis based on peripheral red blood cell dynamics

“…Активность изофермента NAT2 изменяется в результате однонуклеотидных замен (single nucleotide polymorphism, SNP) в структурной области кодирующего гена. Нуклеотидные замены в гене NAT2 могут модифицировать белковую структуру АНТИБИОТИКИ И ХИМИОТЕРАПИЯ, 2021, 66; 9-10 фермента, уменьшать его синтез и изменять активность [15]. В зависимости от генетически детерминированной скорости ацетилирования выделяют три генотипа ацетиляторов изониазида: быстрый, промежуточный и медленный [16,17].…”