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目的探讨血浆载脂蛋白B(apolipoprotein B,Apo B)基因rs676210和rs2854725位点多态性与胆囊结石之间的关系以及其在民族间有无差异。方法采用病例对照研究的方法,收集2010~2014年期间在我院接受手术治疗的胆囊结石患者189例,其中维吾尔族99例,汉族90例;收集同期在我院进行健康体检者190例作为对照,其中维吾尔族93例,汉族97例。胆囊结石患者与健康对照者以及维吾尔族和汉族间的年龄和性别比较差异均无统计学意义(P>0.05)。采用SNa Pshot SNP分型技术进行Apo B基因分型,分析基因型分布在胆囊结石患者与健康对照者间以及维吾尔族和汉族间的差异。结果 1不同民族的胆囊结石患者和健康对照者间Apo B基因rs676210和rs2854725位点等位基因的分布频率比较差异均无统计学意义(维吾尔族:rs676210位点:χ~2=0.229,P=0.633;rs2854725位点:χ~2=0.028,P=0.866。汉族:rs676210位点:χ~2=0.608,P=0.435;rs2854725位点:χ~2=0.089,P=0.766)。2有无胆囊结石的维吾尔族和汉族间Apo B基因rs676210和rs2854725位点等位基因的分布频率比较差异均无统计学意义(胆囊结石患者:rs676210位点:χ~2=0.103,P=0.748;rs2854725位点:χ~2=3.139,P=0.076。健康对照者:rs676210位点:χ~2=0.000,P=0.990;rs2854725位点:χ~2=2.673,P=0.102)。3不同民族的胆囊结石患者和健康对照者间Apo B基因rs676210和rs2854725位点基因型的分布频率比较差异均无统计学意义(维吾尔族:rs676210位点:χ~2=2.301,P=0.317;rs2854725位点:χ~2=3.040,P=0.219。汉族:rs676210位点:χ~2=4.909,P=0.086;rs2854725位点:χ~2=0.107,P=0.744)。4在有胆囊结石的维吾尔族和汉族间Apo B基因rs676210和rs2854725位点基因型的分布频率比较差异均无统计学意义(rs676210位点:χ~2=0.235,P=0.899;rs2854725位点:χ~2=3.630,P=0.057)。在无胆囊结石即健康对照者中,rs676210位点的基因型分布频率在维吾尔族和汉族间总体比较差异无统计学意义(χ~2=1.026,P=0.599),而rs2854725位点基因型分布频率在维吾尔族和汉族间总体比较,差异具有统计学意义(χ~2=9.153,P=0.010),进一步做两两比较(卡方分割),α水平为0.05/3=0.016,得知维吾尔族和汉族间,T/T型与G/T型分布频率比较差异有统计学意义(χ~2=6.128,P=0.013),汉族人群(27.8%)的G/T型高于维吾尔族(12.9%)。结论从本研究的结果来看,Apo B基因rs676210和rs2854725位点基因多态性与胆囊结石无关。对于无胆囊结石即健康对照者中rs676210位点的基因多态性在维吾尔族和汉族间无差异,而rs2854725位点的基因多态性在维吾尔族和汉族间可能存在差异,需要进一步增加样本量及多中心研究来进一步证实。
Objective To investigate the relationship between polymorphism of rs676210 and rs2854725 of apolipoprotein B (Apo B) gene and gallstone in gallbladder and whether there is any difference among the nations. Methods A case-control study was conducted to collect 189 cases of gallbladder stones undergoing surgery in our hospital from 2010 to 2014, including 99 Uygur and 90 Han patients. Totally 190 cases of healthy subjects in our hospital were collected as control , Of which 93 cases of Uighur, Han 97 cases. There were no significant differences in age and sex between patients with gallstones and healthy controls, and between Uygur and Han (P> 0.05). Apo B genotyping was performed using the SNa Pshot SNP typing technique to analyze the differences in genotype distribution between patients with gallstone and healthy controls and between Uighur and Han nationality. Results There was no significant difference in allele frequencies of Apo B rs676210 and rs2854725 between patients with different nationalities and healthy controls (Uygur: rs676210: χ ~ 2 = 0.229, P = 0.633; rs2854725: χ ~ 2 = 0.028, P = 0.866. Han: rs676210: χ ~ 2 = 0.608, P = 0.435; rs2854725: χ ~ 2 = 0.089, P = 0.766). There was no significant difference in allele frequencies of Apo B rs676210 and rs2854725 between Uygur and Han patients with or without gallstone (gallstone patients: rs676210: χ ~ 2 = 0.103, P = 0.748 ; rs2854725: χ ~ 2 = 3.139, P = 0.076. Healthy controls: rs676210: χ ~ 2 = 0.000, P = 0.990; rs2854725: χ ~ 2 = 2.673, P = 0.102). There was no significant difference in genotype frequencies of Apo B rs676210 and rs2854725 between patients with different nationalities and healthy controls (Uygur: rs676210: χ ~ 2 = 2.301, P = 0.317; rs2854725 locus: χ ~ 2 = 3.040, P = 0.219. Han: rs676210 locus: χ ~ 2 = 4.909, P = 0.086; rs2854725 locus: χ ~ 2 = 0.107, P = 0.744). 4 There was no significant difference in genotype frequency of rs676210 and rs2854725 in Apo B gene between Uygur and Han nationality with gallstones (rs676210 locus: χ ~ 2 = 0.235, P = 0.899; rs2854725 locus: χ ~ 2 = 3.630, P = 0.057). In the healthy controls without gallbladder stones, the distribution frequency of rs676210 genotype was not significantly different between Uygur and Han nationality (χ ~ 2 = 1.026, P = 0.599), while the genotype distribution of rs2854725 The frequency was statistically significant between Uygur and Han (χ ~ 2 = 9.153, P = 0.010), further comparisons (chi-square test) and α level was 0.05 / 3 = 0.016 The frequencies of T / T and G / T genotypes were significantly different between ethnic groups and Han nationality (χ ~ 2 = 6.128, P = 0.013). The G / T genotype of Han population (27.8%) was higher than that of Uygur 12.9%). Conclusions From the results of this study, the gene polymorphisms of rs676210 and rs2854725 in Apo B gene are not associated with gallstone. There was no difference between Uygur and Han nationality in rs676210 gene polymorphism in healthy controls without gallbladder stones, but the genetic polymorphism of rs2854725 locus may be different between Uygur and Han nationality, and the sample size need to be further increased And multicenter studies to further confirm.