Author:
Li Xiukuan,Bai Fenghua,Wei Xingwei,Jin Tianbo,Li Chen,Zhang Yutian,Lin Mei,Zhou Xiaoli,Xie Yufei,He Chanyi,Lin Qi,He Ping,Chu Shuyuan,Ding Yipeng
Abstract
Abstract
Background
Serum indicators AFP, CA50, CA125, CA153, CA19-9, CEA, f-PSA, SCC-Ag have been confirmed as tumor markers (TMs). We conducted a genome-wide association study on 8 tumor markers of our 427 Han population in southern China, in order to identify genetic loci that are significantly associated with the level of 8 tumor markers.
Methods
We use Gene Titan multi-channel instrument and Axiom Analysis Suite 6.0 software for genotyping. We used IMPUTE2 software for imputation, and 1000 Genomes Project (Phase 3) was used as haplotype reference. After necessary quality control and statistical analysis, genetic loci genome-wide associated with TMs (p < 5E-8) will be identified. Finally, we selected Top SNPs (p < 5E-7) from the GWAS results for replication test. We used SPSS software to draw the distribution box plots of serum TMs under different genotypes of significant loci.
Results
The results showed that there were only MUC1 (mucin 1)-rs4072037 significantly genome-wide associated with CA153 (p = 1.28E-18). However, we found that a total of 30 genetic loci have a suggestively significant genome-wide association with the level of 8 serum tumor markers (p < 5E-6). Then 3 Top SNPs (p < 5E-7) were selected for replication verification. The results showed that MUC1-rs4072037 was still significantly associated with CA153 in another population (p = 3.73E-08). Comparing with the TT genotype of rs4072037, the CA153 level was higher under CC or CT genotype of rs4072037.
Conclusion
MUC1-rs4072037 is significantly genome-wide associated with CA153 level. There are 30 genetic loci suggestively genome-wide associated with level of tumor markers among the Han population from Southern China.
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics,Oncology
Reference37 articles.
1. Cai J, Chen L. Genome-wide mapping of 5-hydroxymethylcytosines in circulating cell-free DNA as a non-invasive approach for early detection of hepatocellular carcinoma. Gut. 2019;68(12):2195–205.
2. Chen W, Peng J, Ye J, Dai W, Li G, He Y. Aberrant AFP expression characterizes a subset of hepatocellular carcinoma with distinct gene expression patterns and inferior prognosis. J Cancer. 2020;11(2):403–13.
3. Scarà S, Bottoni P, Scatena R. CA 19-9: Biochemical and Clinical Aspects. Adv Exp Med Biol. 2015;867:247–60.
4. Yajima H, Omura N, Matai K, Mitsumori N, Yoshida K, Yanaga K. Clinicopathological features of CA19-9-producing gastric cancer. Hepatogastroenterology. 2014;61(129):221–5.
5. Vanderbeck K, Voutsadakis IA. Elevation of Ca19-9 tumor antigen in colorectal cancer: an in silico investigation of pathogenesis. Int J Color Dis. 2016;31(5):1105–7.
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