基因单核苷酸多态性与噬血细胞性淋巴组织细胞增生症的预后相关。
Gene Single Nucleotide Polymorphisms Are Associated with the Prognosis of Hemophagocytic Lymphohistiocytosis.
机构信息
Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Department of Infectious Diseases, Beijing Jishuitan Hospital, Beijing 100096, China.
出版信息
Comput Math Methods Med. 2021 Dec 10;2021:8581746. doi: 10.1155/2021/8581746. eCollection 2021.
OBJECTIVE
To analyze and study the correlation between NLR family CARD domain-containing 4 (NLRC4) gene single nucleotide polymorphisms and the prognosis of patients with hemophagocytic lymphohistiocytosis (HLH).
METHODS
In this study, we retrospectively studied the clinical data of 62 HLH patients, including 40 males and 22 females. The genomic DNA was extracted, and the genotypes at rs385076 locus and rs479333 locus of the gene were analyzed. The level of blood interleukin-18 (IL-18) was analyzed by enzyme-linked immunosorbent assay (ELISA).
RESULTS
Compared with the TT genotype at the gene rs385076 locus, the mortality of HLH patients with TC genotype and CC genotype was higher (RR = 3.205, 95% CI: 1.277-4.788, = 0.012; RR = 3.052, 95% CI: 1.098-4.753, = 0.031). Taking the CC genotype at rs479333 of the gene as a reference, HLH patients with CG genotype and GG genotype had a higher risk of death (RR = 3.475, 95% CI: 1.488-5.775, = 0.003; RR = 2.986, 95% CI: 1.014-5.570, = 0.047). gene rs385076 T>C and rs479333 C>G were significantly related to the poor prognosis of HLH patients. The area under the curve (AUC) of the receiver operating curve (ROC) for the prognostic outcome of HLH with serum IL-18 level was 0.6813 (95% CI: 0.5365-0.8260, = 0.0189). gene rs385076 T>C and rs479333 C>G were related to higher serum IL-18 levels.
CONCLUSION
gene rs385076 T>C and rs479333 C>G are related to the poor prognosis of HLH patients.
目的
分析和研究富含 N 端亮氨酸重复结构域蛋白 4（NLRC4）基因单核苷酸多态性与噬血细胞性淋巴组织细胞增生症（HLH）患者预后的相关性。
方法
本研究回顾性分析了 62 例 HLH 患者的临床资料，其中男 40 例，女 22 例。提取基因组 DNA，采用酶联免疫吸附试验（ELISA）分析基因 rs385076 位点和 rs479333 位点的基因型，分析血白细胞介素-18（IL-18）水平。
结果
与基因 rs385076 位点 TT 基因型相比，TC 基因型和 CC 基因型 HLH 患者死亡率更高（RR=3.205，95%CI：1.277-4.788，=0.012；RR=3.052，95%CI：1.098-4.753，=0.031）。以基因 rs479333 的 CC 基因型为参照，CG 基因型和 GG 基因型 HLH 患者死亡风险更高（RR=3.475，95%CI：1.488-5.775，=0.003；RR=2.986，95%CI：1.014-5.570，=0.047）。基因 rs385076 T>C 和 rs479333 C>G 与 HLH 患者不良预后显著相关。血清 IL-18 水平对 HLH 预后的受试者工作特征曲线（ROC）曲线下面积（AUC）为 0.6813（95%CI：0.5365-0.8260，=0.0189）。基因 rs385076 T>C 和 rs479333 C>G 与血清 IL-18 水平升高有关。
结论
基因 rs385076 T>C 和 rs479333 C>G 与 HLH 患者不良预后相关。
Zotero 插件