Zhang Yang, Lin Chunwen, Chen Rong, Luo Ling, Huang Jialu, Liu Hao, Chen Weiying, Xu Jian, Yu Haibing, Ding Yuanlin
Department of Epidemiology and Medical Statistics, School of Public Health, Guangdong Medical University, Dongguan, China.
Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Diabetol Metab Syndr. 2022 Jan 6;14(1):4. doi: 10.1186/s13098-021-00774-w.
The association of polymorphisms in the three genes of SOCS3, JAK2 and STAT3 with genetic susceptibility to type 2 diabetes mellitus (T2DM) was explored, and its interaction with environmental factors such as hypertension and triglycerides was analyzed.
The Hardy-Weinberg balance test was used to analyze the random balance of genes in the population. The analysis of the association of SNPs with T2DM was performed using Pearson's chi-square test. Haplotype frequency distribution, SNPs-SNPs interaction and environmental factors were analyzed by chi-square test and logistic regression.
The genotype distribution of SNPs rs2280148 of the SOCS3 gene was statistically significant. The allele frequency distribution of SNPs (rs4969168/rs2280148) was statistically different. After covariate correction, the SOCS3 gene locus (rs4969168) showed an association with T2DM in additive model, while the rs2280148 locus showed an association with T2DM in all three models. The locus (rs10974914/rs10815157) allele and genotype frequency distribution of JAK2 were statistically significant. After covariate correction, two SNPs in the gene showed association with T2DM in both additive and recessive models. The distribution of genotype frequencies of SNPs rs1053005 locus in gene STAT3 was statistically significant between the two groups. In recessive genetic models, rs1053005 locus polymorphisms was associated with T2DM. Haplotype S3 (G G)/S 4 (G T) of the SOCS3 gene as well as haplotype J2 (A G)/J 3 (G C) of the JAK2 gene were closely associated with T2DM. There was an interaction between SNPs rs4969168 and SNPs rs2280148 in the SOCS3 gene. There was an interaction between the SOCS3, JAK2 and STAT3 genes and hypertension/triglycerides.
The SOCS3 and JAK2 genes may be associated with T2DM in the Chinese population, in which SNPs carrying the A allele (rs4969168)/G allele (rs2280148)/C allele (rs10815157) have a reduced risk of T2DM. Haplotype S3 (G G)/S 4 (G T) of the SOCS3 gene and haplotype J2 (A G)/J 3 (G C) of the JAK2 gene may be influencing factor for T2DM. The interaction between SNPs rs4969168 and SNPs rs2280148 increases the risk of T2DM. Hypertension and triglycerides may interact with SNPs of T2DM susceptibility genes.
探讨细胞因子信号转导抑制因子3（SOCS3）、Janus激酶2（JAK2）和信号转导与转录激活因子3（STAT3）这三个基因的多态性与2型糖尿病（T2DM）遗传易感性的关联，并分析其与高血压和甘油三酯等环境因素的相互作用。
采用Hardy-Weinberg平衡检验分析群体中基因的随机平衡情况。使用Pearson卡方检验分析单核苷酸多态性（SNP）与T2DM的关联性。通过卡方检验和逻辑回归分析单倍型频率分布、SNP-SNP相互作用及环境因素。
SOCS3基因的SNP rs2280148的基因型分布具有统计学意义。SNP（rs4969168/rs2280148）的等位基因频率分布存在统计学差异。经协变量校正后，SOCS3基因位点（rs4969168）在加性模型中与T2DM相关，而rs2280148位点在所有三种模型中均与T2DM相关。JAK2的位点（rs10974914/rs10815157）等位基因和基因型频率分布具有统计学意义。经协变量校正后，该基因中的两个SNP在加性和隐性模型中均与T2DM相关。基因STAT3中SNP rs1053005位点的基因型频率分布在两组之间具有统计学意义。在隐性遗传模型中，rs1053005位点多态性与T2DM相关。SOCS3基因的单倍型S3（G G）/S 4（G T）以及JAK2基因的单倍型J2（A G）/J 3（G C）与T2DM密切相关。SOCS3基因中的SNP rs4969168与SNP rs2280148之间存在相互作用。SOCS3、JAK2和STAT3基因与高血压/甘油三酯之间存在相互作用。
SOCS3和JAK2基因可能与中国人群的T2DM相关，其中携带A等位基因（rs4969168）/G等位基因（rs2280148）/C等位基因（rs10815157）的SNP患T2DM的风险降低。SOCS3基因的单倍型S3（G G）/S 4（G T）和JAK2基因的单倍型J2（A G）/J 3（G C）可能是T2DM的影响因素。SNP rs4969168与SNP rs2280148之间的相互作用增加了T2DM的风险。高血压和甘油三酯可能与T2DM易感基因的SNP相互作用。
