中国人群癌症相关单核苷酸多态性的潜在多效性研究

Potential pleiotropism of cancer-related single nucleotide polymorphisms among Chinese population

目的探讨中国人群癌症相关单核苷酸多态性(SNP)的潜在多效性。方法基于美国国立人类基因组研究所及欧洲生物信息学研究所共同构建的全基因组关联研究(GWAS)目录,按照人群来源(中国人群与非中国人群)和疾病性状(癌症与非癌症性状),将2020年8月以前所有GWAS发现SNP分为中国人群癌症、中国人群非癌症、非中国人群癌症和非中国人群非癌症相关4类,描述4类SNP的数量、相互关系和连锁关联情况。结果截至2020年8月,GWAS目录共计纳入4096篇GWAS的196813条SNP信息。排除SNP指代不明或发病不相关的信息,最终纳入117441个独立SNP。按人群来源和疾病性状分组后,中国人群癌症和非癌症疾病(性状)相关SNP分别为619个和9569个;非中国人群癌症和非癌症疾病(性状)相关SNP分别为4624个和106448个。3个SNP与中国和非中国人群2种及以上癌症均相关,分别为rs2736100、rs6983267和rs401681。7个SNP与中国和非中国人群的癌症和非癌症疾病(性状)均相关,分别为rs7705526,rs2736100,rs10993994,rs2735839,rs4430796,rs174537和rs9271588。结论中国人群中存在癌症相关单核苷酸多态性的潜在多效性。

Objective To investigate the potential pleiotropism of cancer-related single nucleotide polymorphisms(SNPs)among Chinese population.Methods Based on the catalogue of GWAS jointly constructed by the National Human Genome Research Institute and the European Institute of Bioinformatics,according to population origin(Chinese population and non-Chinese population)and disease traits(cancer and non-cancer traits).All SNPs found by GWAS before August 2020 were divided into four categories:cancer in Chinese population,non-cancer in Chinese population,cancer in non-Chinese population and non-cancer in non-Chinese population.The number,correlation and linkage of the four categories of SNPs were described.Results By August 2020,a total of 196813 SNPs from 4096 GWAS were included in the GWAS directory.The information that SNPs refer to unknown or were not related to the disease was excluded,and 117441 independent SNPs were finally included.There were 619 SNPs related to cancer and 9569 SNPs related to non-cancer disease in Chinese population,respectively.There were 4624 SNPs related to cancer and 106448 SNPs related to non-cancer disease(trait)in non-Chinese population,respectively.Three SNPs,rs2736100,rs6983267 and rs401681,were associated with two or more types of cancer in both Chinese and non-Chinese populations.Seven SNPs,rs7705526,rs2736100,rs10993994,rs2735839,rs4430796,rs174537 and rs9271588,were associated with cancer and non-cancer diseases in both Chinese and non-Chinese populations,respectively.Conclusion There is a potential pleiotropism of cancer-related SNPs in Chinese population.