Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk

Zhang, Ben; Jia, Wei Hua; Matsuda, Koichi; Kweon, Sun-Seog; Matsuo, Keitaro; Xiang, Yong Bing; Shin, Aesun; Jee, Sun Ha; Kim, Dong Hyun; Cai, Qiuyin; Long, Jirong; Shi, Jiajun; Wen, Wanqing; Yang, Gong; Zhang, Yanfeng; Li, Chun; Li, Bingshan; Guo, Yan; Ren, Ze-Fang; Ji, Bu Tian; Pan, Zhi Zhong; Takahashi, Atsushi; Shin, Min Ho; Matsuda, Fumihiko; Gao, Yu Tang; Oh, Jae Hwan; Kim, Soriul; Ahn, Yoon Ok; Chan, Andrew T.; Chang‐Claude, Jenny; Slattery, Martha L.; Gruber, Stephen B.; Schumacher, Fredrick; Stenzel, Stephanie L.; Casey, Graham; Kim, Hyeong Rok; Jeong, Jin Young; Park, Ji Won; Li, Hong Lan; Hosono, Satoyo; Cho, Sang‐Hee; Kubo, Michiaki; Shu, Xiao Ou; Zeng, Yi Xin; Wang, Zheng

doi:10.1038/ng.2985

Cited by 214 publications

(229 citation statements)

References 83 publications

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“…The Stage I study was a meta-analysis of results of AM and ANM association using data generated from the Shanghai Genome-Wide Association Studies (SGWAS), which included female participants of the Shanghai Breast Cancer Genetics Study (SBCS) (Zheng et al 2009), the Shanghai Endometrial Cancer Study (SECS) (Long et al 2012), the Shanghai Type II Diabetes Studies (ST2DS) , the Shanghai Colorectal Cancer Study (SCRCS) (Jia et al 2013;Zhang et al 2014), and other ancillary studies using the Shanghai Women's Health Study (SWHS) samples (Petersen et al 2010;Abnet et al 2010). All these studies, except for the SBCS and SECS, drew women from the SWHS, a population-based cohort study (Zheng et al 2005).…”

Section: Methodsmentioning

confidence: 99%

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Shi

Zhang

Choi

et al. 2016

AGE

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Age at menarche (AM) and age at natural menopause (ANM) are complex traits with a high heritability. Abnormal timing of menarche or menopause is associated with a reduced span of fertility and risk for several age-related diseases including breast, endometrial and ovarian cancer, cardiovascular disease, and osteoporosis. To identify novel genetic loci for AM or ANM in East Asian women and to replicate previously identified loci primarily in women of European ancestry by genome-wide association studies (GWASs), we conducted a two-stage GWAS. Stage I aimed to discover promising novel AM and ANM loci using GWAS data of 8073 women from Shanghai, China. The Stage II replication study used the data from another Chinese GWAS (n = 1230 for AM and n = 1458 for ANM), a Korean GWAS (n = 4215 for AM and n = 1739 for ANM), and de novo genotyping of 2877 additional Chinese women. Previous GWAS-identified loci for AM and ANM were also AGE (2016) ) and rs1023935 at 4p15.1 (beta = −0.145 years, P = 4.9 × 10 −6) and one menopausal age locus tagged by rs3818134 at 22q12.2 (beta = −0.276 years, P = 8.8 × 10 −6). These suggestive loci warrant a further validation in independent populations. Although limited by low statistical power, we replicated 19 of the 98 menarche loci and 5 of the 20 menopause loci previously identified in women of European ancestry in East Asian women, suggesting a shared genetic architecture for these two traits across populations.

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Section: Methodsmentioning

confidence: 99%

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Shi

Zhang

Choi

et al. 2016

AGE

Self Cite

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“…Instead, it is more important to know whether the SNPs can be used to stratify people in the population in terms of their risk of developing cancer. While each SNP risk allele is associated with only a small increase in risk (e.g., 5-25%) [5][6][7], carriers of many…”

Section: Background and Aimmentioning

confidence: 99%

Quantifying the Utility of Single Nucleotide Polymorphisms to Guide Colorectal Cancer Screening

et al. 2016

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Aim:To determine whether single nucleotide polymorphisms (SNPs) can be used to identify people who should be screened for colorectal cancer. Methods: We simulated one million people with and without colorectal cancer based on published SNP allele frequencies and strengths of colorectal cancer association. We estimated 5-year risks of colorectal cancer by number of risk alleles. Results: We identified 45 SNPs with an average 1.14-fold increase colorectal cancer risk per allele (range: 1.05-1.53). The colorectal cancer risk for people in the highest quintile of risk alleles was 1.81-times that for the average person. Conclusion: We have quantified the extent to which known susceptibility SNPs can stratify the population into clinically useful colorectal cancer risk categories.

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“…compared with -69A and 4150T alleles in two independent case-control sets (18). A genome-wide association study performed by Zhang et al (26) indicated that rs4246215 (4150G>A), variant of the FEN1 gene, was associated with colorectal cancer in an East Asian population.…”

Section: Discussionmentioning

confidence: 99%

FEN1 −69G>A and +4150G>T polymorphisms and breast cancer risk

et al. 2016

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Abstract. Flap endonuclease 1 (FEN1), a DNA repair protein, is important in preventing carcinogenesis. Two functional germ line variants -69G>A (rs174538) and +4150G>T (rs4246215) in the FEN1 gene have been associated with risk of various types of cancer. The aim of the present study was to evaluate the possible impact of FEN1 polymorphisms on risk of breast cancer (BC) in a sample of Iranian subjects. The FEN1 -69G>A and +4150G>T polymorphisms were analyzed in a case-control study that included 266 BC patients and 225 healthy females. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the variants. The findings demonstrated that the FEN1 -69G>A and +4150G>T polymorphisms were not associated with BC risk in co-dominant, dominant and recessive inheritance models. The findings indicated that GG/GT, GA/GG and GA/TT genotypes significantly decreased the risk of BC when compared with -69GG/+4150GG. Furthermore, haplotype analysis indicated that -69G/+4150T as well as -69A/+4150G significantly decreased the risk of BC compared with -69G/+4150G. Thus, these findings demonstrated that haplotypes of FEN1 -69G>A and +4150G>T polymorphisms decreased the risk of BC in an Iranian population. Further studies with larger sample sizes and different ethnicities are required to validate the present findings.

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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk

Cited by 214 publications

References 83 publications

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Quantifying the Utility of Single Nucleotide Polymorphisms to Guide Colorectal Cancer Screening

FEN1 −69G>A and +4150G>T polymorphisms and breast cancer risk

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