Journal
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
Volume 60, Issue 3, Pages 161-164Publisher
INFORMA HEALTHCARE
DOI: 10.3109/19396368.2013.877540
Keywords
Estrogen receptor 1; genetic polymorphisms; recurrent spontaneous abortion
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Funding
- National Basic Research Program of China
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Recurrent spontaneous abortion (RSA) is a health problem that affects nearly 1% of fertile couples. However, the underlying etiology and mechanism(s) remain elusive. The aim of this study was to investigate estrogen receptor (ESR) 1 gene polymorphisms for risk association of unexplained recurrent spontaneous abortion (URSA) in the Chinese Han population. The entire coding region of the ESR1 gene was sequenced from 129 URSA patients and 183 healthy controls. There was a significant difference between the G allele and GG genotype distributions, of the ESR1 gene (XbaI) polymorphism, between the URSA and the control groups (chi(2) = 14.93, df = 1, p < 0.001, OR = 2.01 95% CI: 1.41-2.88 by allele; chi(2) = 12.24, df = 2, p = 0.002 by genotype). The PvuII polymorphism, C allele frequency was higher in RSA than in controls (41.9% vs. 34.7%, respectively). Women carrying C-G haplotype were associated with an increased risk of URSA in this population (permutation test p value = 0.016, OR = 1.76 95% CI: 1.19-2.59). Estrogen receptor 1 gene PvuII and XbaI polymorphisms were associated with URSA in a Chinese Han population. However, independent replication of these associations are necessary to assure veracity.
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