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白细胞介素-6 受体基因多态性变异 rs2228145(C>A)与土耳其健康人群白细胞介素-6 基因多态性的关联。

Association of the IL-6R gene polymorphic variant rs2228145(C>A) with IL-6 gene polymorphisms in a healthy cohort of Turkish population.

机构信息

Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Biruni University, Istanbul, Turkey.

Gentest, İstanbul, Turkey.

出版信息

Genes Immun. 2022 Jun;23(3-4):118-122. doi: 10.1038/s41435-022-00167-7. Epub 2022 Mar 25.

Abstract

The main aim of this study was to investigate the relationship of the carriership of rs2228145 allelic variations of IL-6R with two other allelic variations in IL-6 gene at rs1800795 and rs1800796 loci and with the laboratory data of a healthy cohort of the Turkish population. The data of 121 healthy Turkish subjects (aged 12-84 years) including the past diseases, comorbidities were collected. The laboratory parameters were compared by the frequency of alleles of rs2228145 (C>A). The possible association of polymorphism at rs2228145 locus with the age, gender, and body mass index (BMI) and the frequencies of alleles of rs1800795 and rs1800796 polymorphisms were evaluated. The majority of the subjects had allele A at rs2228145 locus and allele G at rs1800796 locus. The number of white blood cells, platelets, neutrophils and monocytes were significantly higher in the subjects with allele C than those with allele A at rs2228145 locus (P < 0.05). The concentrations of total and direct bilirubin, iron, Sex Hormone Binding Globulin (SHBG) and folic acid of the subjects with allele C were significantly lower than those with allele A (P < 0.05). The uric acid and fasting insulin levels were higher in the subjects with allele C compared with those allele A (P = 0.04). The diversities of the hematological parameters, laboratory findings of liver function tests and renal panel and hormone levels may be explained by the variants of rs2228145 locus at IL-6R gene among healthy Turkish individuals.

摘要

本研究的主要目的是探讨白细胞介素 6 受体(rs2228145)等位基因变异与白细胞介素 6 基因(rs1800795 和 rs1800796 基因座)的另外两个等位基因变异以及与土耳其健康人群的实验室数据之间的关系。收集了 121 名健康土耳其人(年龄 12-84 岁)的既往疾病和合并症数据。通过 rs2228145(C>A)等位基因的频率比较了实验室参数。评估了 rs2228145 基因座多态性与年龄、性别、体重指数(BMI)以及 rs1800795 和 rs1800796 多态性等位基因频率的可能相关性。大多数受试者 rs2228145 基因座的等位基因 A 和 rs1800796 基因座的等位基因 G。与 rs2228145 基因座的等位基因 A 相比,等位基因 C 的受试者白细胞、血小板、中性粒细胞和单核细胞数量显著更高(P<0.05)。与等位基因 A 相比,等位基因 C 的受试者总胆红素和直接胆红素、铁、性激素结合球蛋白(SHBG)和叶酸浓度显著降低(P<0.05)。与等位基因 A 相比,等位基因 C 的受试者尿酸和空腹胰岛素水平更高(P=0.04)。rs2228145 基因座在白细胞介素 6 受体基因中的变异可能解释了健康土耳其人群的血液学参数、肝功能和肾功能检测以及激素水平的变化。

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