Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.
Qiuyin CaiBen ZhangHyuna SungSiew-Kee LowSun-Seog KweonWei LuJiajun ShiJirong LongWanqing WenJi-Yeob ChoiDong-Young NohChen-Yang ShenKeitaro MatsuoSoo-Hwang TeoMi Kyung KimUi Soon KhooMotoki IwasakiMikael HartmanAtsushi TakahashiKyota AshikawaKoichi MatsudaMin-Ho ShinMin Ho ParkYing ZhengYong-Bing XiangBu-Tian JiSue K ParkPei-Ei WuChia-Ni HsiungHidemi ItoYoshio KasugaPeter KangShivaani MariapunSei Hyun AhnHan Sung KangKelvin Y K ChanEllen P S ManHiroji IwataShoichiro TsuganeHui MiaoJiemin LiaoYusuke NakamuraMichiaki Kubonull nullRyan J DelahantyYanfeng ZhangBingshan LiChun LiYu-Tang GaoXiao-Ou ShuDaehee KangWei ZhengPublished in: Nature genetics (2014)
In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P=0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.
Keyphrases
- genome wide
- genome wide association study
- breast cancer risk
- copy number
- genome wide association
- transcription factor
- dna methylation
- genome wide identification
- quality improvement
- gene expression
- binding protein
- polycystic ovary syndrome
- type diabetes
- machine learning
- big data
- metabolic syndrome
- electronic health record