Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study

BMC Medical Genetics

Research Article

Timothy P York¹  Jerome F Strauss²  Lori D Hill²  DaShaunda D Hilliard²  Ricardo Gomez³  Sindhu Srinivas⁴  Michal A Elovitz⁴  Roberto Romero⁵  Juan P Kusanovic⁶ 

[1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, 23298, Richmond, VA, United States;Department of Obstetrics and Gynecology and Center on Health Disparities, Virginia Commonwealth University School of Medicine, 23298, Richmond, VA, United States;Department of Obstetrics and Gynecology, Sótero del Río Hospital, Santiago, Chile;Department of Obstetrics and Gynecology, Pontifica Universidad Católica de Chile, Santiago, Chile;Maternal and Child Health Research Program, Department of Obstetrics & Gynecology, University of Pennsylvania School of Medicine, 10104, Philadelphia, PA, United States;Perinatology Research Branch, NICHD/NIH/DHHS, Bethesda and Detroit, 48201, MD and MI, United States;Perinatology Research Branch, NICHD/NIH/DHHS, Bethesda and Detroit, 48201, MD and MI, United States;Department of Obstetrics and Gynecology, Pontifica Universidad Católica de Chile, Santiago, Chile;

关键词: Preeclampsia;    African American Population;    African American Study;    Chilean Population;    Fetal Sample;   

DOI  :  10.1186/1471-2350-12-64

 received in 2011-01-06, accepted in 2011-05-11,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundPreeclampsia affects 3-8% of pregnancies and is a major cause of maternal and perinatal morbidity and mortality worldwide. This complex disorder is characterized by alterations in the immune and vascular systems and involves multiple organs. There is strong evidence for a genetic contribution to preeclampsia. Two different single nucleotide polymorphisms (SNPs) in the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene were recently reported to be associated with increased risk for preeclampsia in two different populations. ERAP2 is expressed in placental tissue and it is involved in immune responses, inflammation, and blood pressure regulation; making it is an attractive preeclampsia candidate gene. Furthermore, ERAP2 expression is altered in first trimester placentas of women destined to develop preeclampsia.MethodsA case-control design was used to test for associations between two SNPs in ERAP2, rs2549782 and rs17408150, and preeclampsia status in 1103 Chilean maternal-fetal dyads and 1637 unpaired African American samples (836 maternal, 837 fetal).ResultsWe found that the fetal minor allele (G) of rs2549782 was associated with an increased risk for preeclampsia in the African American population (P = 0.009), but not in the Chilean population. We found no association between rs17408150 and risk for preeclampsia in the Chilean population. Association between rs17408150 and risk for preeclampsia was not tested in the African American population due to the absence of the minor allele in this population.ConclusionsWe report an association between fetal ERAP2 and preeclampsia in an African American population. In conjunction with previous studies, which have found maternal associations with this gene in an Australian/New Zealand population and a Norwegian population, ERAP2 has now been associated with preeclampsia in three populations. This provides strong evidence that ERAP2 plays a role in the development of preeclampsia.

【 授权许可】

Unknown   
© Hill et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.