title: ERBB4 Confers Risk for Polycystic Ovary Syndrome in Han Chinese.
abstract: A recent genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) in European cohorts has identified six susceptibility loci mapping to 11q22.1 (YAP1), 2p21 (THADA), 11p14.1 (FSHB), 2q34 (ERBB4), 12q21.2 (KRR1), and 5q31.1 (RAD50). The loci of 11q22.1, 2p21 and 11p14.1 have been confirmed to be associated with PCOS in Chinese; whereas the other three new loci (2q34, 12q21.2, and 5q31.1) still need to be evaluated in Chinese. This study was aimed to determine if the three new loci identified in European PCOS also confer risks for PCOS in Han Chinese. We performed a case-control genetic association study comprising 1500 PCOS cases and 1220 age-matched control subjects. Marker SNPs rs1351592 (2q34, ERBB4), rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50) were genotyped using TaqMan-MGB probe assay. Genotyping analysis showed the allele frequency of rs1351592 in gene ERBB4 was significantly different (P = 1.05E-03) between PCOS cases and control group, and remained significant even after BMI adjustment (Padjusted= 2.09E-04). However, the allele frequencies of the other two risk variants, rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50), were not significantly different in the replication cohort. Our results demonstrate that ERBB4, with the strongest association in European PCOS, also confers risk for PCOS in Han Chinese.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.
authors.forename: Yingqian
authors.initials: Y
authors.lastname: Peng
authors.affiliation: Department of joint and bone oncology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Tian
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.
authors.forename: Shizhen
authors.initials: S
authors.lastname: Su
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.
authors.forename: Changming
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.|National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China.|The Key laboratory for Reproductive Endocrinology of Ministry of Education, China.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
mesh_terms: D000328:Adult; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D066247:Receptor, ErbB-4 / Q000235:genetics*
chemical_list: C587689:ERBB4 protein, human; D066247:Receptor, ErbB-4