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Endoglin pathway genetic variation in preeclampsia: A validation study in Norwegian and Latina cohorts.

TitleEndoglin pathway genetic variation in preeclampsia: A validation study in Norwegian and Latina cohorts.
Publication TypeJournal Article
Year of Publication2018
AuthorsSchmella, M, Roberts, J, Conley, Y, Ren, D, Storvold, G, Ingles, S, Wilson, M, Staff, A, Hubel, C
JournalPregnancy Hypertens
Volume12
Pagination144-149
Date Published2018 Apr
ISSN2210-7797
KeywordsActivin Receptors, Type II, Adolescent, Adult, California, Case-Control Studies, Chi-Square Distribution, COLAB, Endoglin, European Continental Ancestry Group, Female, Genetic Association Studies, Genetic Predisposition to Disease, Global Pregnancy Collaboration (CoLab), Hispanic Americans, Humans, Logistic Models, Multivariate Analysis, Norway, Phenotype, Polymorphism, Single Nucleotide, Pre-Eclampsia, Pregnancy, Protein-Serine-Threonine Kinases, Receptor, Transforming Growth Factor-beta Type I, Receptor, Transforming Growth Factor-beta Type II, Receptors, Transforming Growth Factor beta, Risk Factors, Transforming Growth Factor beta1, Young Adult
Abstract

OBJECTIVE: The purpose of this study was to validate our previous genetic association findings related to the endoglin (ENG) pathway from an American Caucasian preeclampsia cohort in independent preeclampsia cohorts. We also sought to explore the ENG pathway for new genetic associations in these independent cohorts.

STUDY DESIGN: We used a tagging single nucleotide (tSNP) approach to assess genetic variability across five ENG pathway genes (ENG, TGFβ1, TGFβR1, ALK1, and TGFβR2) in a Caucasian cohort from Norway (n = 77 preeclampsia cases & n = 63 normotensive controls) and a White Hispanic cohort from Southern California (n = 69 preeclampsia cases & n = 106 normotensive controls).

MAIN OUTCOME MEASURES: Univariate analyses (Chi Square, Fisher's Exact) and multivariate logistic regression were conducted to evaluate the association between tSNP genotype distributions and pregnancy outcome in each cohort. Logistic regression models were adjusted for maternal age at delivery, infant sex, parity, smoking during pregnancy, and pre-pregnancy BMI.

RESULTS: Although we were unable to replicate our previous SNP-specific findings (ENG rs11792480, rs10121110; TGFβR2 rs6550005; p's > 0.05), we found that genetic variation in TGFβR1[ALK5] (rs6478974) and TGFβR2 (rs11129420, rs6802220, rs1155708, rs3773640, rs3773663) was significantly associated with preeclampsia in the Norwegian cohort and genetic variation in ALK1 (rs706819) and TGFβR2 (rs9843942) was significantly associated with preeclampsia in the Latina cohort.

CONCLUSION: Overall, our results provide further support for the involvement and investigation of the endoglin pathway in preeclampsia.

DOI10.1016/j.preghy.2017.10.005
Alternate JournalPregnancy Hypertens
Citation Key557
PubMed ID29580923
PubMed Central IDPMC5995147
Grant ListF32 NR014622 / NR / NINR NIH HHS / United States
T32 NR009759 / NR / NINR NIH HHS / United States
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