Genome-wide association study on colorectal cancer in the Hong Kong Chinese population
| Autor: | Choi, Siu-chung, 蔡兆聰 |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
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| Druh dokumentu: | PG_Thesis |
| DOI: | 10.5353/th_b4852156 |
| Popis: | Colorectal cancer (CRC) is the second most common cancer in Hong Kong. While high-penetrance germline mutations account for up to 6% of cases, much of the variation in genetic risk may be attributable to multiple low-penetrance variants. Previous genome wide association studies (GWAS) have identified a number of CRC susceptibility alleles in Caucasian populations. Our GWAS investigated the association between genetic variants with CRC risk in the Han Chinese population in Hong Kong. In Stage I, genomic DNA samples from 455 female Chinese CRC subjects were genotyped using the Illumina 610 Quad SNP chip. Association analysis was performed on 439 cases and 771 general population female controls recruited for a study on bone mineral density. Population stratification was examined through principal components analysis using EIGENSTRAT version 2.0. From the association results, 46 SNPs (Group 1) were selected for follow-up replication (Stage II), together with 10 SNPs (Group 2) from previous GWAS studies. Genomic DNA samples from 3,571 Chinese subjects were genotyped using Sequenom MassARRAY system. Association analysis was performed on 1,505 cases and 1,452 controls. 5 SNPs (rs835378, rs2652007, rs2139273, rs2139273 and rs9286410) exceeded the genome-wide significance level in stage I, although none replicated in Stage 2, suggesting genotyping error. Results from stage II showed that the three most significant SNP were among those selected from the previous studies, yet their significance levels in Stage I were very weak. None of the SNPs selected from Stage I was significant at p published_or_final_version Psychiatry Master Master of Philosophy |
| Databáze: | Networked Digital Library of Theses & Dissertations |
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