白细胞介素 23 受体基因单核苷酸多态性与中国汉族人群结核病的关联：一项病例对照研究。
Association between a single nucleotide polymorphism of the IL23R gene and tuberculosis in a Chinese Han population: a case‒control study.
机构信息
Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, No. 37, Guo Xue Alley, Chengdu, 610041, Sichuan Province, People's Republic of China.
Intensive Care Unit, Deyang People's Hospital, No 173, North Taishan Road, Deyang, 618000, Sichuan Province, People's Republic of China.
出版信息
BMC Pulm Med. 2023 Jul 18;23(1):265. doi: 10.1186/s12890-023-02546-w.
BACKGROUND
Severe tuberculosis constitutes a significant menace to human safety and well-being, with a considerable mortality rate. The severity of tuberculosis can be impacted by genetic variations in host genes, particularly single nucleotide polymorphisms (SNPs).
METHODS
A case‒control study was undertaken, encompassing a cohort of 1137 tuberculosis patients (558 with severe tuberculosis and 579 with mild tuberculosis), alongside 581 healthy controls within the age range of fifteen to forty-five years. Whole blood DNA was extracted from all participants, and three tag polymorphisms (rs1884444, rs7518660, rs7539625) of the IL23R gene were selectively identified and genotyped.
RESULTS
No significant correlation was observed between the IL23R gene polymorphisms (rs1884444, rs7518660, and rs7539625) and tuberculosis. Upon comparing the tuberculosis group with the healthy control group, the mild tuberculosis group with the healthy control group, and the severe tuberculosis group with the healthy control group, the obtained P-values were> 0.05. However, in the comparison between severe tuberculosis and mild tuberculosis, the presence of rs1884444 G alleles exhibited a significantly increased risk of severe tuberculosis after adjusting for age and sex (OR: 1.199, 95% CI: 1.009-1.424; P=0.039, respectively). In subgroup analysis, after accounting for confounding factors, including age and sex, rs1884444 G alleles continued to demonstrate a significantly heightened risk of severe tuberculosis. Nonetheless, the comparison between the multisystemic tuberculosis group and the mild tuberculosis group was no significant difference. Notably, rs1884444 of the IL23R gene exhibited a noteworthy association with the risk of severe tuberculosis in the comparison between severe tuberculosis and mild tuberculosis before and after adjusting for age and sex (OR: 1.301, 95% CI: 1.030-1.643; P=0.027, respectively). Furthermore, the presence of the rs1884444 G allele exhibited a significantly increased risk of severe tuberculosis after adjusting for age and sex in the comparison between tuberculous meningitis and mild tuberculosis (OR: 1.646, 95% CI: 1.100-2.461; P=0.015, respectively).
CONCLUSIONS
The present study suggests that there is no significant association between IL23R gene polymorphism and tuberculosis susceptibility in the Chinese Han population. However, it does indicate a potential link between IL23R polymorphism and an increased risk of developing severe tuberculosis.
背景
结核病是对人类安全和健康的重大威胁，其死亡率相当高。宿主基因中的单核苷酸多态性（SNP）会影响结核病的严重程度。
方法
进行了病例对照研究，纳入了 1137 例结核病患者（558 例严重结核病，579 例轻度结核病）和 581 例年龄在 15 至 45 岁之间的健康对照者。从所有参与者中提取全血 DNA，并选择鉴定和基因分型白细胞介素 23 受体（IL23R）基因的三个标记单核苷酸多态性（rs1884444、rs7518660、rs7539625）。
结果
IL23R 基因多态性（rs1884444、rs7518660 和 rs7539625）与结核病之间无显著相关性。在将结核病组与健康对照组、轻度结核病组与健康对照组以及严重结核病组与健康对照组进行比较时，获得的 P 值均大于 0.05。然而，在严重结核病与轻度结核病的比较中，调整年龄和性别后，rs1884444 G 等位基因的存在显著增加了严重结核病的风险（OR：1.199，95%CI：1.009-1.424；P=0.039）。在亚组分析中，在考虑年龄和性别等混杂因素后，rs1884444 G 等位基因仍然与严重结核病的风险显著升高相关。然而，多系统结核病组与轻度结核病组之间的比较无显著差异。值得注意的是，IL23R 基因 rs1884444 与严重结核病和轻度结核病之间的风险显著相关，无论是否调整年龄和性别（OR：1.301，95%CI：1.030-1.643；P=0.027）。此外，在结核性脑膜炎与轻度结核病的比较中，调整年龄和性别后，rs1884444 G 等位基因的存在显著增加了严重结核病的风险（OR：1.646，95%CI：1.100-2.461；P=0.015）。
结论
本研究表明，在中国汉族人群中，IL23R 基因多态性与结核病易感性之间无显著相关性。然而，它确实表明 IL23R 多态性与发生严重结核病的风险增加之间存在潜在联系。
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