广西壮族与汉族人群白细胞介素1β基因5号外显子+3953C/T多态性的差异(英文)

Difference in the polymorphism of exon 5 +3953C/T of interleukin-1 beta gene between Guangxi Zhuang population and Han population

背景:研究发现白细胞介素1β基因5号外显子+3953C/T位点处存在多态性,这种基因多态性与胃癌、风湿病、关节炎等疾病有关,而白细胞介素1β基因型在中国壮族的分布特点又如何呢?目的:观察白细胞介素1β基因5号外显子+3953C/T多态性在中国广西壮、汉两民族中的分布,并与高加索人和非洲白人进行比较。设计:对比观察。单位:右江民族医学院组织学与胚胎学教研室。对象:观察对象为广西右江民族医学院附属医院健康体检者。壮族155名,男80名,女75名,平均年龄(37±9)岁;汉族195名,男100名,女95名,平均年龄(38±9)岁。相互间无血缘关系,且均对检测项目知情同意。方法:实验于2003-06/2005-05在广西医科大学医学科学实验中心完成。应用聚合酶链反应-限制性片段长度多态性技术检测155名壮族人和195名汉族人的白细胞介素1β基因5号外显子+3953C/T多态性,用基因直接计数法计算健康人群白细胞介素1β的基因型及等位基因频率,并结合文献与高加索人、非洲白人进行了不同种族间的分析比较。主要观察指标:不同种族人群白细胞介素1β(+3953)位点基因型频率及等位基因携带频率比较。结果:纳入壮族和汉族健康体检者分别155和195名,均进入结果分析。①广西壮、汉族人群白细胞介素1β基因+3953C/T基因型和等位基因分布频率相近(壮族人群CC,CT,TT基因型和C,T等位基因分布频率:94.8%,5.2%,0,97.4%,2.6%@汉族分别为93.3%,6.7%,0,96.7%,3.3%,P>0.05)。②高加索人、非洲白人与广西壮、汉两民族人群间白细胞介素1β基因型分布及等位基因携带频率差异明显(高加索人CC,CT,TT基因型和C,T等位基因分布频率:52.2%,43.9%,3.9%,74.1%,25.9%@非洲白人分别为60.4%,33.2%,6.4%,76.4%,23.6%,P<0.01)。结论:广西壮、汉族白细胞介素1β基因5号外显子+3953C/T多态性分布相近,但与高加索人、非洲白人分布存在明显差异。

BACKGROUND： Polymorphism of exon 5 ＋3953C/T of interleukin-1 β（IL-1β） gene is found in some studies. This gene polymorphism is related to stomach cancer, rheumatism, arthritis and other diseases. However, what is the distribution property of genotype of IL-1β gene in Guangxi Zhuang population？ OBJECTIVE： To observe the distribution of the polymorphism of exon 5 ＋3953C/T of IL-1β gene in Chinese Guangxi Zhuang population and Han poulation, and compare its distribution with Caucasians and African white people. DESIGN： Contrast observation. SETTING： Department of Histology and Embryology, Youjiang Medical College for Nationalities. PARTICIPANTS： Persons who received the health examination in the Affiliated Hospital of Youjiang Medical College for Nationalities were recruited in the experiment. Among them, 155 were Zhuang nationality, including 80 male and 75 female, aged （37：1=9） years, and 195 were Han nationality, including 100 male and 95 female , aged （38：1=9） years. Blood relationship was not found among them, and informed consents were obtained from all the participants. METHODS： This experiment was carried out in the Experimental Center for Medical Sciences, Guangxi Medical University from June 2003 to May 2005. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to detect the polymorphism of exon 5 ＋ 3953C/T of IL-1β gene in Guangxi Zhuang population （n=155） and Han population （n=195）. Genotype and allele frequency of IL-1β gene of healthy population were directly calculated with counting method, and they were compared between Caucasians and African white people combining with literatures. MAIN OUTCOME MEASURES： Comparison of genotype frequency and allele taking frequency of IL-1β gene （＋3953） among different ethnic populations. RESULTS： Subjects who received healthy examination including 155 Guangxi Zhuang nationality and 195 Chinese Han nationality participated in result analysis. （1）The frequencies of genotypes and allele of IL-1β gene （＋3953C/T） were close between Guangxi Zhuang population and Han nationality （Frequency of genotype CC, CT TF and allele C and T of Zhuang population was 94.8%,5.2%,0,97.4%,2.6%, respectively, and that of Han population was 93.3%,6.7%,0,96.7%,3.3%, respectively, P 〉 0.05）. （2） There were significant differences in genotype distribution and allele taking frequency of IL-1β gene between Caucasians, African white people and Guangxi Zhuang population, Han population （Frequency of genotype CC, CT , and allele C and T of Caucasians was 52,2%,43.9%,3.9%,74.1%, 25.9%, respectively, and that of African white people was 60.4%,33.2%, 6.4%,76.4%,23.6%, respectively, P 〈 0.01）. CONCLUSION： The distribution of polymorphism of exon 5 ＋3953C/T of IL-1β gene is close between Guangxi Zhuang population and Han population, but significant difference exists in comparison with Caucasians and African white people.