https://scholars.lib.ntu.edu.tw/handle/123456789/112370
標題: | 染色體1p32.2-36.1區域肝癌易感受基因連鎖高峰之定位:候選基因策略 Identification of Hepatocellular Carcinoma Susceptibility Gene by Peakwide Mapping on Chromosome 1p32.2-36.1: pplication of Positional Candidate Gene Approach |
作者: | 王雅蕙 Wang, Ya-Hui |
關鍵字: | 候選基因策略;家族研究;病例對照;關連性分析;肝癌易感受基因;Positional candidate gene approach;family study;case-control study;association study;HCC susceptibility gene | 公開日期: | 2008 | 摘要: | Background: In hepatocellular carcinomas (HCCs), frequent allelic loss on chromosome 1p has been reported. Using linkage analysis on multiplex families, a HCC-susceptibility locus has been mapped to a broad region of chromosome 1p32.2-36.1. aterials and Methods: Here we have used a positional candidate gene strategy, based on association mapping with single nucleotide polymorphisms (SNPs) on 19 candidate genes within the linked region among 240 families with HCC, followed by a case-control analysis involving an independent set of 855 cases and 875 controls. Significance of the association was assessed by the false-discovery rate q value, which accounts for multiple testing. esults: In the family sample, we observed a significant association between HCC and five single-nucleotide polymorphisms (SNPs) in a haplotype block by using the pedigree disequilibrium test. SNP 13, located in the 3’ untranslated region (UTR) of the retinoblastoma binding protein 4 (RBBP4) gene, showed the strongest evidence (nominal P=0.0047; empirical P=0.0025; q=0.0188). Further case-control analysis confirmed the genetic association between SNP13 and HCC, and identified additional two SNPs in the same haplotype block. The C allele (minor allele) of SNP13 conferred an increased risk for HCC (odds ratio [95% confidence interval]: 1.36 [1.11-1.65] for heterozygotes; 1.29 [0.90-1.84] for homozygotes ). SNP13 and two neighboring SNPs fell on a common haplotype (‘C-A-C’ at SNP13-SNP14-SNP15), which was also associated with an increase risk of HCC.onclusion: NP13 was consistently associated with HCC in both family and case-control sample. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/180689 |
顯示於: | 流行病學與預防醫學研究所 |
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ntu-97-R95842015-1.pdf | 23.32 kB | Adobe PDF | 檢視/開啟 |
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