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Binbin Wang1,2,†, Peisu Suo1,2,†, Beili Chen3, Zhaolian Wei2, Lu Yang3, Sirui Zhou1,2, Jing Wang1,2, Yunxia Cao3 and Xu Ma1,2,4,*1Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, China 2Peking Union Medical College, Beijing, China 3Reproductive Medicine Center, First Affiliated Hospital, Anhui Medical University, Hefei, China 4World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, China *Correspondence address. Tel: +86-10-62176870; Fax: +86-10-62179151; E-mail: genetic{at}263.net.cn?† These authors contributed equally to the work. Received June 5, 2010. Revision received December 19, 2010. Accepted January 5, 2011. BACKGROUND Chemokine (C-X-C motif) ligand 12 (CXCL12/stromal cell-derived factor 1) has been suggested to play an essential role in primordial germ cell migration, colonization and survival, and in the primordial to primary follicle transition. This study was performed to investigate an association of polymorphisms in CXCL12 with the risk of premature ovarian failure (POF) in Chinese patients. METHODS Tagging single nucleotide polymorphisms (SNPs) were selected using the Chinese HapMap database. Five SNPs (rs4948878, rs1801157, rs266087, rs266093 and rs1029153) were genotyped by direct sequencing in 111 patients with POF and 183 healthy controls recruited from the First Affiliated Hospital, Anhui Medical University, China. RESULTS Compared with controls, there were significantly higher frequencies of the rs1801157 A allele and haplotype C-T-A-T-T in cases with POF [P = 6.38E-07, odds ratio (OR) = 3.10, 95% confidence interval (CI) 1.955–4.890 by allele; P = 7.0E-04, OR = 2.39, 95% CI 1.43–3.97 by haplotype]. No differences were observed for the other four SNPs between POF cases and controls. CONCLUSIONS A strong association between a CXCL12 polymorphism and POF was established in Chinese patients, suggesting that CXCL12 might be a new candidate gene involved in POF. The A allele of CXCL12 polymorphism rs1801157 is a possible risk factor for developing POF. However, further independent studies are necessary to confirm our findings. © The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com This ArticleHum. Reprod. (2011) 26 (4): 950-954. doi: 10.1093/humrep/der001 First published online: February 4, 2011Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.
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