A common variant in the SIAH2 locus is associated with estrogen receptor-positive breast cancer in the Chinese Han population.
BACKGROUND
Genome-wide association studies (GWAS) have identified many loci associated with breast cancer risk. These studies have primarily been conducted in populations of European descent.


OBJECTIVE
To determine whether previously reported susceptibility loci in other ethnic groups are also risk factors for breast cancer in a Chinese population.


METHODS
We genotyped 21 previously reported single nucleotide polymorphisms (SNPs) within a female Chinese cohort of 1203 breast cancer cases and 2525 healthy controls using the Sequenom iPlex platform. Fourteen SNPs passed the quality control test. These SNPs were subjected to statistical analysis for the entire cohort and were further analyzed for estrogen receptor (ER) status. The associations of the SNPs with disease susceptibility were assessed using logistic regression, adjusting for age. The Bonferroni correction was used to conservatively account for multiple testing, and the threshold for statistical significance was P<3.57×10(-3) (0.05/14).


RESULTS
Although none of the SNPs showed an overall association with breast cancer, an analysis of the ER status of the breast cancer patients revealed that the SIAH2 locus (rs6788895; P = 5.73×10(-4), odds ratio [OR] = 0.81) is associated with ER-positive breast cancer.


CONCLUSIONS
A common variant in the SIAH2 locus is associated with ER-positive breast cancer in the Chinese Han population. The replication of published GWAS results in other ethnic groups provides important information regarding the genetic etiology of breast cancer.
Department of Oncology, No. 2 Hospital, Anhui Medical University, Hefei, Anhui, China ; School of Life Sciences, Anhui Medical University, Hefei, Anhui, China.
Bo
B
Zhang
Yang
Y
Li
Xiaodong
X
Zheng
Xianbo
X
Zuo
Fusheng
F
Zhou
Bo
B
Liang
Jun
J
Zhu
Pan
P
Li
Yantao
Y
Ding
Zhonglian
Z
Huang
Benzhong
B
Wang
Zhendong
Z
Chen
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D002681:China; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008875:Middle Aged; D009367:Neoplasm Staging; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D000098563:Seven in Absentia Proteins
D009687:Nuclear Proteins; D011960:Receptors, Estrogen; D044767:Ubiquitin-Protein Ligases; D000098563:Seven in Absentia Proteins