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Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

 Ben Zhang  ;  Wei Hua Jia  ;  Keitaro Matsuo  ;  Aesun Shin  ;  Yong Bing Xiang  ;  Koichi Matsuda  ;  Sun Ha Jee  ;  Dong Hyun Kim  ;  Peh Yean Cheah  ;  Zefang Ren  ;  Qiuyin Cai  ;  Jirong Long  ;  Jiajun Shi  ;  Wanqing Wen  ;  Gong Yang  ;  Bu Tian Ji  ;  Zhi Zhong Pan  ;  Fumihiko Matsuda  ;  Yu Tang Gao  ;  Jae Hwan Oh  ;  Yoon Ok Ahn  ;  Michiaki Kubo  ;  Lai Fun Thean  ;  Eun Jung Park  ;  Hong Lan Li  ;  Ji Won Park  ;  Jaeseong Jo  ;  Jin Young Jeong  ;  Satoyo Hosono  ;  Yusuke Nakamura  ;  Xiao Ou Shu  ;  Yi Xin Zeng  ;  Wei Zheng 
 INTERNATIONAL JOURNAL OF CANCER, Vol.135(4) : 948-955, 2014 
Journal Title
Issue Date
Adult ; Aged ; Alleles ; Asian Continental Ancestry Group/genetics ; Case-Control Studies ; China ; Colorectal Neoplasms/ethnology* ; Colorectal Neoplasms/genetics* ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study* ; Genotype ; Humans ; Japan ; Male ; Middle Aged ; Odds Ratio ; Polymorphism, Single Nucleotide ; Principal Component Analysis ; Republic of Korea ; Risk ; Singapore ; Smad7 Protein/genetics*
GWAS ; Genome-wide association study ; SMAD7 ; colorectal cancer ; epidemiology ; genetic susceptibility ; single-nucleotide polymorphisms
Genome-wide association studies (GWAS) of colorectal cancer (CRC) have been conducted primarily in European descendants. In a GWAS conducted in East Asians, we first analyzed approximately 1.7 million single-nucleotide polymorphisms (SNPs) in four studies with 1,773 CRC cases and 2,642 controls. We then selected 66 promising SNPs for replication and genotyped them in three independent studies with 3,612 cases and 3,523 controls. Five SNPs were further evaluated using data from four additional studies including up to 3,290 cases and 4,339 controls. SNP rs7229639 in the SMAD7 gene was found to be associated with CRC risk with an odds ratio (95% confidence interval) associated with the minor allele (A) of 1.22 (1.15-1.29) in the combined analysis of all 11 studies (p = 2.93 × 10(-11) ). SNP rs7229639 is 2,487 bp upstream from rs4939827, a risk variant identified previously in a European-ancestry GWAS in relation to CRC risk. However, these two SNPs are not correlated in East Asians (r(2)  = 0.008) nor in Europeans (r(2)  = 0.146). The CRC association with rs7229639 remained statistically significant after adjusting for rs4939827 as well as three additional CRC risk variants (rs58920878, rs12953717 and rs4464148) reported previously in this region. SNPs rs7229639 and rs4939827 explained approximately 1% of the familial relative risk of CRC in East Asians. This study identifies a new CRC risk variant in the SMAD7 gene, further highlighting the significant role of this gene in the etiology of CRC.
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4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers
Yonsei Authors
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
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