CAJ | 학술논문

目的：探讨胆固醇结石与 ApoB 基因多态性之间的关系，以及是否存在维吾尔族（维族）与汉族间的差异。方法采用前瞻性病例-对照研究方法，选择2010年3月－2013年8月在新疆维吾尔自治区人民医院接受手术治疗并经手术证实为胆固醇结石患者189例（胆结石组），其中维族99例，汉族90例。对照组为年龄和性别与胆结石组相匹配的同期在我院体检中心接受健康体检者，其中维族93例，汉族97例。采用 SNaPshot SNP 分型技术进行 ApoB 基因分型，分析两组 ApoB 基因 rs520354、rs1367117位点基因型及等位基因分布频率及其维、汉族间的差异。结果（1）胆结石组中，汉族 ApoB 基因 rs520354位点少见基因型 AA 频率明显高于维吾尔族，差异有统计学意义（χ2＝11．028，P ＜0．05）；而对照组中 GG、GA、AA 基因型频率未见维、汉族间差异（χ2＝ 1．799，P ＞0．05）；两组 rs520354等位基因分布频率均未见维、汉族间差异。两组 rs1367117位点基因型和等位基因分布频率均未见维、汉族间差异（P ＞0．05）。（2）汉族胆结石组 ApoB 基因 rs520354少见基因型 AA 频率明显高于对照组，差异有统计学意义（χ2＝6．460，P ＜0．05）；而维吾尔族中，rs520354基因型频率未见两组间差异（P ＞0．05）；维、汉族 rs520354等位基因分布频率均未见两组间的差异；维族和汉族 rs1367117位点基因型和等位基因分布频率均未见两组间差异（P ＞0．05）。结论胆结石患者 ApoB 基因 rs520354多态性存在维汉民族间差异，ApoB 基因rs520354多态性可能和汉族胆固醇结石相关。ApoB 基因 rs1367117多态性可能和胆固醇结石无关，且未见维汉民族间差异。但需要进一步增加样本含量及多中心研究来进一步证实。
목적：탐토담고순결석여 ApoB 기인다태성지간적관계，이급시부존재유오이족（유족）여한족간적차이。방법채용전첨성병례-대조연구방법，선택2010년3월－2013년8월재신강유오이자치구인민의원접수수술치료병경수술증실위담고순결석환자189례（담결석조），기중유족99례，한족90례。대조조위년령화성별여담결석조상필배적동기재아원체검중심접수건강체검자，기중유족93례，한족97례。채용 SNaPshot SNP 분형기술진행 ApoB 기인분형，분석량조 ApoB 기인 rs520354、rs1367117위점기인형급등위기인분포빈솔급기유、한족간적차이。결과（1）담결석조중，한족 ApoB 기인 rs520354위점소견기인형 AA 빈솔명현고우유오이족，차이유통계학의의（χ2＝11．028，P ＜0．05）；이대조조중 GG、GA、AA 기인형빈솔미견유、한족간차이（χ2＝ 1．799，P ＞0．05）；량조 rs520354등위기인분포빈솔균미견유、한족간차이。량조 rs1367117위점기인형화등위기인분포빈솔균미견유、한족간차이（P ＞0．05）。（2）한족담결석조 ApoB 기인 rs520354소견기인형 AA 빈솔명현고우대조조，차이유통계학의의（χ2＝6．460，P ＜0．05）；이유오이족중，rs520354기인형빈솔미견량조간차이（P ＞0．05）；유、한족 rs520354등위기인분포빈솔균미견량조간적차이；유족화한족 rs1367117위점기인형화등위기인분포빈솔균미견량조간차이（P ＞0．05）。결론담결석환자 ApoB 기인 rs520354다태성존재유한민족간차이，ApoB 기인rs520354다태성가능화한족담고순결석상관。ApoB 기인 rs1367117다태성가능화담고순결석무관，차미견유한민족간차이。단수요진일보증가양본함량급다중심연구래진일보증실。
Objective To explore ApoB gene polymorphisms in cholesterol gallstone disease in Uygur and Han patients.Methods:A prospective case-control study was conducted on Cholesterol gallstone group (189 patients with cholesterol gallstone operation,including 99 Uygur and 90 Han)and control group (190 cases,including 93 Uygur and 97 Han,in good condition,age-and-sex-matched volunteers with physical examination in Medical Centre)in 2012.3-2013.8 from People′s Hospital of Xinjiang Uygur Autonomous Region.SNaPshot SNP was adopted to analyze if the distribution of ApoB rs520354 and rs1367117 gene types in the samples of both gallstone group and control group was different between Uygur and Han.Re-sults (1)In gallstone group the infrequent genotype AA frequencies of ApoB gene rs520354 was signifi-cantly higher in Hans than that in Uygurs (χ2 =11.028,P <0.05),while there was no difference between the two races in controls group (χ2 = 1.799,P > 0.05).ApoBrs520354 gene allele frequencies was not found significantly different between Uygurs and Hans in gallstone group and control group.No significant difference of ApoBgene rs1367117 genotype and allele frequencies was found between Uygurs and Hans in gallstone group or control group.(2)In Hans the infrequent genotype AA frequencies of ApoB gene rs520354 was significantly higher in gallstone group than that in control group (χ2 = 6.460,P <0.05), while there was no difference between the two races in Uygur (P > 0.05).No significant difference of ApoB gene rs1367117 genotype and allele frequencies was found between gallstone group and control in Uygurs or Hans.Conclusions It was found out that ApoBrs520354 gene polymorphism was different in Uygur and Han patients with gallstone disease,which indicated some association with gallstone disease Han patients.This study implied that there might be no association of ApoBrs1367117 gene polymorphism with gallstone disease and there was no difference in the race of Uygur and Han.More samples and multi-centered-studies are needed to confirm the findings.