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Title: | 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: Application of Positional Candidate Gene Approach |
Authors: | Ya-Hui Wang 王雅蕙 |
Advisor: | 于明暉(Ming-Whei Yu) |
Keyword: | 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, |
Publication Year : | 2008 |
Degree: | 碩士 |
Abstract: | 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.
Materials 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. Results: 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. Conclusion: SNP13 was consistently associated with HCC in both family and case-control sample. |
URI: | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/9821 |
Fulltext Rights: | 同意授權(全球公開) |
Appears in Collections: | 流行病學與預防醫學研究所 |
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