1.Association of SLC6A4 gene c.*670T>G polymorphism with the risk for asthma and peripheral blood cytological characteristics among ethnic Zhuang Chinese population.
Gao CHEN ; Jianguo XU ; Shuai WEI ; Minlv MENG ; Chen LAN ; Chunru ZHAO ; Yingjiao MA
Chinese Journal of Medical Genetics 2023;40(10):1228-1235
OBJECTIVE:
To assess the association of SLC6A4 gene c.*670T>G polymorphism with the risk for asthma and peripheral blood cytological characteristics among ethnic Zhuang Chinese from Guangxi, China.
METHODS:
From May 2017 to March 2020, 258 patients diagnosed with asthma and 244 healthy controls were recruited from the Affiliated Hospital of Youjiang Minzhu Medical College and the People's Hospital of Hechi. Genotypes of the c.*670T>G polymorphism were determined by Sanger sequencing. Flow cytometry was used in combination with an electrical impedance method for the counting and classification of peripheral blood cells.
RESULTS:
Compared with the T allele, the G allele of the c.*670T>G polymorphism was associated with the risk for asthma in the population (OR = 1.54, 95%CI = 1.15-2.06; P = 0.004). Compared with the GT and TT genotypes, homozygous GG genotype also comprised a risk factor (OR = 1.66, 95%CI = 1.16-2.38; P = 0.005). Stratification of the risk factors showed that the homozygous GG genotype has increased the risk of asthma in males and urban residents (P < 0.01). The erythrocyte, hemoglobin and platelet counts of the asthma group were significantly higher than the control group (P < 0.001). The GG, GT and TT genotypes have respectively accounted for 82.35%, 17.65% and 0% of the samples with platelets exceeding the normal value. The overall platelet level of GG genotype was higher than GT+TT genotype (P < 0.05). The significant association was verified by the false positive report probability, and at a prior probability level of 0.1, G vs. T false positive probability was 0.071, and GG vs. GT+TT false positive probability was 0.153.
CONCLUSION
The GG genotype of the c.*670T>G polymorphism is associated with the risk for asthma among ethnic Zhuang Chinese from northwest Guangxi. Above finding has also enriched the genotypic data and peripheral blood phenotype for this polymorphism.
Male
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Humans
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East Asian People
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China
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Genotype
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Alleles
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Asthma/genetics*
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Serotonin Plasma Membrane Transport Proteins
2.Regional leptomeningeal collateral score on CT angiography predicts the outcome after endovascular therapy in patients with late window anterior circulation stroke
Chunru HAN ; Hongru ZHAO ; Jianhua JIANG ; Qi FANG ; Lulu ZHANG ; Jue'an JIANG
International Journal of Cerebrovascular Diseases 2021;29(11):805-811
Objective:To investigate the predictive value of regional leptomeningeal collateral (rLMC) score on CT angiography (CTA) for the outcome after endovascular therapy in patients with late window anterior circulation stroke.Methods:Patients with acute anterior circulation large vessel occlusive stroke received endovascular treatment 6 to 24 h after onset in the Department of Neurology, the First Affiliated Hospital of Soochow University from January 2018 to July 2021 were enrolled retrospectively. At 3 months after onset, the outcome was evaluated according to the modified Rankin Scale. A score of ≤ 2 was defined as good outcome, and a score of >2 was defined as poor outcome. The clinical data, non-enhanced CT and CTA parameters of the patients were collected. Multivariate logistic analysis was used to determine the independent influencing factors of poor outcomes after endovascular treatment. Results:A total of 74 patients with acute anterior circulation large vessel occlusive stroke treated with endovascular treatment in the late window were enrolled. Their age was 64.41±12.98 years, 43 were males (58.1%). The baseline National Institutes of Health Stroke Scale (NIHSS) score was 13.18±5.22, and the median time from onset to puncture was 527.5 min. Fifty-three patients (71.6%) chose direct thrombectomy and 21 (28.4%) chose intravenous thrombolysis and bridging thrombectomy. Thirty-six patients (48.6%) had a good outcome and 38 (51.4%) had a poor outcome, including 4 (5.4%) died. Univariate analysis showed that there were significant differences in age, atrial fibrillation, fasting blood glucose, NIHSS score, Alberta Stroke Program Early CT Score (ASPECTS), rLMC score and clot burden score between the good outcome group and the poor outcome group (all P<0.05). Multivariate logistic regression analysis showed that higher ASPECTS (odds ratio 0.352, 95% confidence interval 0.157-0.791; P=0.012) and rLMC score (odds ratio 0.550, 95% confidence interval 0.329-0.919; P=0.022) were the independent predictors of good outcomes after endovascular therapy. Conclusion:ASPECTS and rLMC scores were the independent predictors of clinical outcomes after endovascular therapy in patients with late window anterior circulation large vessel occlusive stroke. It had certain guiding value for the decision-making of endovascular treatment in such patients.