ICMR-Regional Medical Research Centre, Northeastern Region, Dibrugarh, India.
Department of Biotechnology, Gauhati University, Guwahati, India.
J Vector Borne Dis. 2020 Jan-Mar;57(1):23-30. doi: 10.4103/0972-9062.308795.
BACKGROUND & OBJECTIVES: Visceral leishmaniasis or kala-azar is a fatal protozoan disease caused by an obligate intracellular parasite, Leishmania donovani. Susceptibility, establishment of infection and severity of this disease depend upon many factors, but it is the host immune system that plays decisive role in disease progression. Keeping this view into consideration, we investigated the probable relationship between polymorphisms rs2275913 and rs8193036 in IL-17 gene, and its association as a risk factor for kala-azar in an endemic population of Assam, India.
A total of 209 subjects, 76 kala-azar cases (male: 46, female: 30, mean age ± SD: 34.60 ± 12.61) and 133 controls (male: 66, female: 67, mean age ± SD: 33.35 ± 14.48) were included in this study. We analysed the polymorphisms, rs2275913 and rs8193036 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The data were analysed using logistic regression analysis and SPSS software.
The results revealed that the mutant rs8193036 TT genotype conferred 4.7-fold higher risk for kala-azar (p = 0.00991, OR = 4.72, 95% CI = 1.330-16.911). A significant difference was found between the allele frequencies of rs8193036 (p = 0.029, OR = 1.64, 95% CI = 1.04-2.57) when comparisons were done using the genetic models of association. When stratification analysis was done on the basis of active and past cases we found that during active infection rs2275913 A allele was significantly associated with increased risk of kala-azar (p = 0.016, OR = 3.95, 95% CI = 1.21-12.87).
INTERPRETATION & CONCLUSION: The findings revealed that IL-17 genetic variant, rs8193036 is an independent risk factor for kala-azar infection and may contribute in pathogenesis of the disease. Further, rs2275913 polymorphism of IL-17 gene is associated with kala-azar during active infection.
内脏利什曼病或黑热病是一种致命的原生动物病，由专性细胞内寄生虫利什曼原虫引起。这种疾病的易感性、感染的建立和严重程度取决于许多因素，但宿主免疫系统在疾病进展中起着决定性作用。考虑到这一点，我们研究了白细胞介素-17 基因中的 rs2275913 和 rs8193036 多态性及其作为印度阿萨姆邦地方性流行人群黑热病风险因素的可能相关性。
本研究共纳入 209 名受试者，76 例黑热病病例（男性：46 例，女性：30 例，平均年龄±标准差：34.60±12.61）和 133 名对照（男性：66 例，女性：67 例，平均年龄±标准差：33.35±14.48）。我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术分析了 rs2275913 和 rs8193036 多态性。使用逻辑回归分析和 SPSS 软件对数据进行分析。
结果表明，突变 rs8193036 TT 基因型使黑热病的风险增加 4.7 倍（p=0.00991，OR=4.72，95%CI=1.330-16.911）。rs8193036 等位基因频率存在显著差异（p=0.029，OR=1.64，95%CI=1.04-2.57），当使用关联的遗传模型进行比较时。当根据活动性和过去病例进行分层分析时，我们发现 rs2275913 A 等位基因在活动性感染期间与黑热病的风险增加显著相关（p=0.016，OR=3.95，95%CI=1.21-12.87）。
研究结果表明，白细胞介素-17 基因的遗传变异 rs8193036 是黑热病感染的一个独立危险因素，可能有助于疾病的发病机制。此外，白细胞介素-17 基因的 rs2275913 多态性与活动性感染期间的黑热病有关。
