Wang Yan, Hou Yan, Wang Chun-zhi, Zhu Xiao-hui, Zhu Li-na, Yang Xiao, Cao Cheng
The Center of Clinical Genetics, Affiliated Bayi Children's Hospital, General Hospital of Beijing Command of the People's Liberation Army, Beijing, 100700 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):310-5. doi: 10.3760/cma.j.issn.1003-9406.2010.0.016.
To identify the single nucleotide polymorphisms (SNPs) of the alpha2-Heremans-Schmid glycoprotein (AHSG) gene and assess their association with the AHSG serum level.
The SNPs of the AHSG gene were identified from 30 unrelated Han individuals from Guangzhou area by resequencing. Linkage disequilibrium(LD) was performed to observe the linkage disequilibrium pattern. Then tagSNPs were genotyped in 192 Han individuals from Beijing and 424 Han individuals from Guangzhou area. Finally, luciferase reporter gene assay was performed to determine whether the SNPs affected the promoter activity. Serum AHSG concentrations were measured in the 192 subjects from Beijing using ELISA.
Eight SNPs were detected in total. The linkage disequilibrium profile in the Guangzhou Han population was different from that in the Beijing Han population. However, the allele and genotype frequencies of tagSNPs between the two Han populations were not significantly different. The reporter gene assay showed that the -799A allele had significantly higher promoter activity than the -799T allele. Multiple regression analysis revealed that only the rs2248690 SNP was an independent contributor to serum AHAG concentration.
The rs2248690 SNP in the promoter region of the AHSG gene might affect the AHSG gene transcription.
鉴定α2-赫曼斯-施密德糖蛋白（AHSG）基因的单核苷酸多态性（SNP），并评估其与AHSG血清水平的关联。
通过重测序从广州地区30名无亲缘关系的汉族个体中鉴定AHSG基因的SNP。进行连锁不平衡（LD）分析以观察连锁不平衡模式。然后对来自北京的192名汉族个体和来自广州地区的424名汉族个体进行标签SNP基因分型。最后，进行荧光素酶报告基因检测以确定这些SNP是否影响启动子活性。使用酶联免疫吸附测定（ELISA）法测量来自北京的192名受试者的血清AHSG浓度。
共检测到8个SNP。广州汉族人群的连锁不平衡图谱与北京汉族人群不同。然而，两个汉族人群中标签SNP的等位基因和基因型频率无显著差异。报告基因检测表明，-799A等位基因的启动子活性显著高于-799T等位基因。多元回归分析显示，只有rs2248690 SNP是血清AHAG浓度的独立影响因素。
AHSG基因启动子区域的rs2248690 SNP可能影响AHSG基因转录。
