Li Xiaofeng, Chen Huiqin, Cai Yun, Zhang Pingping, Chen Zhuanggui
Department of Pediatrics, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China.
Oncotarget. 2017 Apr 27;8(37):60933-60940. doi: 10.18632/oncotarget.17458. eCollection 2017 Sep 22.
To investigate the impact of and the gene single nucleotide polymorphisms (SNPs), gene-gene interactions and haplotype on type-1 Autoimmune Hepatitis (AIH) risk.
Logistic regression analysis showed that type 1 AIH was significantly higher in carriers of T allele of rs7574865 than those with GG genotype (- value less than 0.001), higher in carriers of C allele of rs7582694 than those with GG genotype (- value < 0.001), and lower in carriers of T allele of rs2476601 than those with CC genotype (- value < 0.001). GMDR model indicated a significant two-locus model ( = 0.0100) involving rs7582694 and rs2476601. Participants with GC or CC of rs7582694 and CC of rs2476601 genotype have the highest type 1 AIH risk (- value < 0.001), after covariates adjustment. Haplotype containing the rs7582694-C and rs7574865-T alleles were associated with a statistically increased type 1 AIH risk ( < 0.001).
Logistic regression was performed to investigate association between SNPs within and gene and susceptibility to type 1 AIH. Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combinations among the 4 SNPs.
We conclude that rs7574865 and rs7582694 in gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in gene minor allele is associated with decreased type 1 AIH risk.
研究[具体基因]和[具体基因]单核苷酸多态性（SNP）、基因-基因相互作用及单倍型对1型自身免疫性肝炎（AIH）风险的影响。
逻辑回归分析显示，rs7574865的T等位基因携带者患1型AIH的比例显著高于GG基因型者（P值小于0.001），rs7582694的C等位基因携带者患1型AIH的比例高于GG基因型者（P值<0.001），而rs2476601的T等位基因携带者患1型AIH的比例低于CC基因型者（P值<0.001）。GMDR模型表明存在一个涉及rs7582694和rs2476601的显著两位点模型（P = 0.0100）。在校正协变量后，rs7582694为GC或CC基因型且rs2476601为CC基因型的参与者患1型AIH的风险最高（P值<0.001）。包含rs7582694 - C和rs7574865 - T等位基因的单倍型与1型AIH风险的统计学显著增加相关（P < 0.001）。
进行逻辑回归以研究[具体基因]和[具体基因]内SNP与1型AIH易感性之间的关联。使用广义多因素降维法（GMDR）筛选4个SNP之间的最佳相互作用组合。
我们得出结论，[具体基因]中的rs7574865和rs7582694的次要等位基因、rs7582694与rs2476601之间的相互作用以及包含rs7582694 - C和rs7574865 - T等位基因的单倍型与1型AIH风险增加相关，但[具体基因]中的rs2476601次要等位基因与1型AIH风险降低相关。
