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Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes

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dc.contributor.author Nieves-Colón, M.A.
dc.contributor.author Badillo Rivera, K.M.
dc.contributor.author Sandoval, K.
dc.contributor.author Villanueva Dávalos, V.
dc.contributor.author Enriquez Lencinas, L.E.
dc.contributor.author Mendoza-Revilla, Javier
dc.contributor.author Adhikari, K.
dc.contributor.author González-Buenfil, R.
dc.contributor.author Chen, J.W.
dc.contributor.author Zhang, E.T.
dc.contributor.author Sockell, A.
dc.contributor.author Ortiz-Tello, P.
dc.contributor.author Hurtado, Gloria Malena
dc.contributor.author Condori Salas, Ramiro
dc.contributor.author Cebrecos, Ricardo
dc.contributor.author Manzaneda Choque, J.C.
dc.contributor.author Manzaneda Choque, F.P.
dc.contributor.author Yábar Pilco, G.P.
dc.contributor.author Rawls, E.
dc.contributor.author Eng, C.
dc.contributor.author Huntsman, S.
dc.contributor.author Burchard, E.
dc.contributor.author Ruiz-Linares, A.
dc.contributor.author González-José, R.
dc.contributor.author Bedoya, G.
dc.contributor.author Rothhammer, F.
dc.contributor.author Bortolini, M.C.
dc.contributor.author Poletti, Giovanni
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Bustamante, C.D.
dc.contributor.author Baker, J.C.
dc.contributor.author Gignoux, C.R.
dc.contributor.author Wojcik, G.L.
dc.contributor.author Moreno-Estrada, A.
dc.date.accessioned 2022-08-15T20:11:10Z
dc.date.available 2022-08-15T20:11:10Z
dc.date.issued 2022
dc.identifier.uri https://hdl.handle.net/20.500.12866/12060
dc.description.abstract Preeclampsia is a multi-organ complication of pregnancy characterized by sudden hypertension and proteinuria that is among the leading causes of preterm delivery and maternal morbidity and mortality worldwide. The heterogeneity of preeclampsia poses a challenge for understanding its etiology and molecular basis. Intriguingly, risk for the condition increases in high-altitude regions such as the Peruvian Andes. To investigate the genetic basis of preeclampsia in a population living at high altitude, we characterized genome-wide variation in a cohort of preeclamptic and healthy Andean families (n = 883) from Puno, Peru, a city located above 3,800 meters of altitude. Our study collected genomic DNA and medical records from case-control trios and duos in local hospital settings. We generated genotype data for 439,314 SNPs, determined global ancestry patterns, and mapped associations between genetic variants and preeclampsia phenotypes. A transmission disequilibrium test (TDT) revealed variants near genes of biological importance for placental and blood vessel function. The top candidate region was found on chromosome 13 of the fetal genome and contains clotting factor genes PROZ, F7, and F10. These findings provide supporting evidence that common genetic variants within coagulation genes play an important role in preeclampsia. A selection scan revealed a potential adaptive signal around the ADAM12 locus on chromosome 10, implicated in pregnancy disorders. Our discovery of an association in a functional pathway relevant to pregnancy physiology in an understudied population of Native American origin demonstrates the increased power of family-based study design and underscores the importance of conducting genetic research in diverse populations. en_US
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartofseries American Journal of Human Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Preeclampsia en_US
dc.subject Pregnancy en_US
dc.subject Andean en_US
dc.subject Peru en_US
dc.subject PROZ en_US
dc.subject GWAS en_US
dc.subject Family trio en_US
dc.subject Offspring genome en_US
dc.title Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1016/j.ajhg.2022.04.014
dc.relation.issn 1537-6605


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