Abstract
Objective To explore the relationship between single nucleotide polymorphism (SNP) locus rs1058587, rs1059519 and rs1059369 polymorphisms of growth differentiation factor-15 (GDF-15) gene and susceptibility to chronic Keshan disease in Gansu Province. Methods Using the case-control study method, 56 individuals with chronic Keshan disease were taken as case group, and 53 individuals without chronic Keshan disease from the same villages were selected as control group in Gansu Keshan disease areas, venous blood samples were collected, and ethylenediamine tetraacetic acid disodium salt (EDTA) was used for anticoagulation, and the samples were sent for gene sequencing. Univariate and multivariate logistic regression analyses were conducted to analyze the influence of genotypes of rs1058587, rs1059519 and rs1059369 on the prevalence of chronic Keshan disease, and the risk factors for disease were expressed as odds ratio (OR). Results The age of the 56 patients in the case group was (60.93 ± 21.99) years old, 15 males and 41 females; the age of the 53 residents in control group was (47.49 ± 33.61) years old, 26 males and 27 females. There was no significant difference in age between the two groups (t = 46.16, P > 0.05); the difference in gender was statistically significant (χ2= 5.76, P 0.05); the differences of allele frequencies of GDF-15 rs1059319 (C: 25.0%, 40.6%, G: 75.0%, 59.4%) between the two groups were significantly different (χ2 = 6.01, P 0.05). However, in the case group, the mutant GG frequency of rs1059519 locus was higher than wild type CC (χ2 = 5.33, P 0.05); there was no significant difference between the heterozygous type of GDF-15 gene rs1059519 and wild type (OR = 3.34, P > 0.05), and the difference between the mutant and wild type was statistically significant (OR = 8.58, P < 0.05). Conclusions In this study, we find women of the study population are more likely to have chronic Keshan disease than men, and aged ≥45 is a risk factor for chronic Keshan disease. Genetic polymorphisms of GDF-15 gene rs1058587, rs1059369 are not associated with susceptibility to chronic Keshan disease, and a certain correlation between genetic polymorphism of rs1059519 locus and susceptibility to chronic Keshan disease. Key words: Polymorphism, single nucleotide; Growth differentiation factor-15; Keshan disease; Disease susceptibility
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