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AKT1 polymorphisms are associated with tuberculosis in the Chinese population.

ABSTRACT: AKT1, a serine/threonine kinase, plays a critical role in the controlling of intracellular growth of Mycobacterium tuberculosis. In this study, we investigated whether polymorphisms in AKT1 affect susceptibility to tuberculosis (TB). Two single nucleotide polymorphisms of AKT1, IVS3+18C>T and +726G>A were genotyped in Chinese patients with pulmonary TB by polymerase chain reaction-restriction fragment length polymorphism. Patients with pulmonary TB had significantly lower IVS3+18 C/C genotype and higher C/T genotype compared with age-, gender- and ethnically matched controls (P < 0.05). The T-A haplotype frequency was significantly higher in patients than in controls (P < 0.05). In conclusion, our result indicates that AKT1 polymorphisms are associated with susceptibility to pulmonary TB.

SUBMITTER: Wang X

PROVIDER: S-EPMC7165883 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature

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AKT1 polymorphisms are associated with tuberculosis in the Chinese population.

Wang X X Cao Z Z Jiang J J Zhu Y Y Dong M M Tong A A Cheng X X

International journal of immunogenetics 20100205 2

AKT1, a serine/threonine kinase, plays a critical role in the controlling of intracellular growth of Mycobacterium tuberculosis. In this study, we investigated whether polymorphisms in AKT1 affect susceptibility to tuberculosis (TB). Two single nucleotide polymorphisms of AKT1, IVS3+18C>T and +726G>A were genotyped in Chinese patients with pulmonary TB by polymerase chain reaction-restriction fragment length polymorphism. Patients with pulmonary TB had significantly lower IVS3+18 C/C genotype an ...[more]

PMID: 20141546

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Project description:BackgroundTuberculosis (TB), an infectious disease caused by Mycobacterium tuberculosis, is a major public health concern. Chemokines and their receptors, such as RANTES, CXCR3, and CCR5, have been reported to play important roles in cell activation and migration in immune responses against TB infection.MethodsTo understand the correlations involving CCR5 gene variations, M. tuberculosis infection, and TB disease progression, a case-control study comprising 450 patients with TB and 306 healthy controls from a Chinese Han population was conducted, along with the detection of polymorphisms in the CCR5 promoter using a sequencing method.ResultsAfter adjustment for age and gender, the results of logistic analysis indicated that the frequency of rs2734648-G was significantly higher in the TB patient group (P = 0.002, OR = 1.38, 95% CI: 1.123-1.696); meanwhile, rs2734648-GG showed notable susceptibility to TB (P = 6.32E-06, OR = 2.173, 95% CI: 1.546-3.056 in a recessive model). The genotypic frequency of rs1799987 also varied between the TB and control groups (P = 0.008). In stratified analysis, rs2734648-GG significantly increased susceptibility to pulmonary TB in a recessive model (P < 0.0001, OR = 2.382, 95% CI: 1.663-3.413), and the rs2734648-G allele significantly increased susceptibility to TB recurrence in a dominant model (P = 0.0032, OR = 1.936, 95% CI: 1.221-3.068), whereas rs1799987-AA was associated with susceptibility to pulmonary TB (P = 0.0078, OR = 1.678, 95% CI: 1.141-2.495 in a recessive model) but not with extra-pulmonary TB and TB recurrence. A haplotype constructed with the major alleles of the eight SNPs in the CCR5 promoter (rs2227010-rs2856758-rs2734648-rs1799987-rs1799988-rs41469351-rs1800023-rs1800024: A-A-G-G-T-C-G-C) exhibited extraordinarily increased risk of susceptibility to TB and pulmonary TB (P = 6.33E-11, OR = 24.887, 95% CI: 6.081-101.841).ConclusionIn conclusion, CCR5 promoter polymorphisms were found to be associated with pulmonary TB and TB progression in Chinese Han people.

Project description:OBJECTIVE: Primary hyperuricemia, an excess of uric acid in the blood, is a major public health problem. In addition to the morbidity that is attributable to gout, hyperuricemia is also associated with metabolic syndrome, hypertension, and cardiovascular disease. This study aims to assess the genetic associations between Apolipoprotein E (APOE) polymorphisms and hyperuricemia in a Chinese population. METHODS: A total of 770 subjects (356 hyperuricemic cases and 414 normouricemic controls) were recruited from the Ningxia Hui Autonomous Region, China. A physical examination was performed and fasting blood was collected for biochemical tests, including determination of the levels of serum lipid, creatinine, and uric acid. Multi-ARMS PCR was applied to determine the APOE genotypes, followed by an investigation of the distribution of APOE genotypes and alleles frequencies in the controls and cases. RESULTS: The frequencies of the APOE-ε2ε3 genotype (17.70% vs. 10.39%, P = 0.003) and the APOE-ε2 allele (10.53% vs. 5.80%, P = 0.001) were significantly higher in the hyperuricemic group than in the normouricemic group. Furthermore, male cases were more likely to have the APOE-ε2ε3 genotype and APOE-ε2 allele, compared with male controls. In both Han and Hui subjects, cases were more likely to have the APOE-ε2ε3 genotype and the APOE-ε2 allele compared with controls. Furthermore, multivariate logistic regression showed that carriers of the APOE-ε2ε3 genotype (P = 0.001, OR = 2.194) and the ε2 allele (P = 0.001, OR = 2.099) were significantly more likely to experience hyperuricemia than carriers of the ε3/ε3 genotype and the ε3 allele after adjustment for sex, body mass index (BMI), diastolic blood pressure (DBP), triglyceride (TG), low density lipoprotein cholesterol (LDL-C), creatinine (Cr) and fasting blood glucose (FBG). CONCLUSIONS: The APOE-ε2ε3 genotype and the APOE-ε2 allele are associated with serum uric acid levels in Chinese subjects, indicating that individuals carrying the APOE-ε2 allele have a higher risk of hyperuricemia than non-carriers.

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AKT1 polymorphisms are associated with tuberculosis in the Chinese population.

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AKT1 polymorphisms are associated with tuberculosis in the Chinese population.

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