Article type: Research Article
Authors: Díaz-Olguín, Lizbeth | Coral-Vázquez, Ramón
Mauricio | Canto-Cetina, Thelma | Canizales-Quinteros, Samuel | Ramírez Regalado, Belem | Fernández, Genny | Canto, Patricia
Affiliations: División de Investigación Biomédica,
Subdirección de Enseñanza e Investigación, Centro Médico
Nacional 20 de Noviembre, Instituto de Seguridad y Servicios Sociales de los
Trabajadores del Estado, México, D.F., México | Sección de Posgrado, Escuela Superior de Medicina,
Instituto Politécnico Nacional, México, D.F., & División de
Medicina Genómica, Centro Médico Nacional "20 de Noviembre",
Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado,
México, D.F., México | Laboratorio de Biología de la Reproducción,
Departamento de Salud Reproductiva y Genética, Centro de Investigaciones
Regionales "Dr. Hideyo Noguchi", Mérida Yucatán, México | Facultad de Química, Universidad Nacional
Autónoma de México, México, D.F., México, Unidad de
Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias
Médicas y Nutrición "Salvador Zubirán", México, D.F.,
Mexico | Servicio Prenatal del Hospital Materno Infantil, S.S.,
Mérida, Yucatán, México
Note: [] Corresponding author: Patricia Canto, M.D., Ph.D., División
de Investigación Biomédica C.M.N. 20 de Noviembre, ISSSTE, San Lorenzo
No. 502, 2nd piso, Col. del Valle, Delegación Benito Juárez, C.P.
03100, México, D.F., México. Tel.: +52 55 52003513; Fax: +52 55
55754879. E-mail: ipcanto@yahoo.com.mx
Abstract: Preeclampsia is a specific disease of pregnancy and believed to have
a genetic component. The aim of this study was to investigate if three
polymorphisms in eNOS or their haplotypes are associated with
preeclampsia in Maya mestizo women. A case-control study was performed where
127 preeclamptic patients and 263 controls were included. Genotyped and
haplotypes for the -768T→C, intron 4
variants, Glu298Asp of eNOS were determined by PCR and real-time PCR
allelic discrimination. Logistic regression analysis with adjustment for age
and body mass index (BMI) was used to test for associations between genotype
and preeclampsia under recessive, codominant and dominant models. Pairwise
linkage disequilibrium between single nucleotide polymorphisms was calculated
by direct correlation r^{2}, and haplotype analysis was
conducted. Women homozygous for the Asp298 allele showed an association of
preeclampsia. In addition, analysis of the haplotype frequencies revealed that
the -786C-4b-Asp298 haplotype was significantly more frequent in preeclamptic
patients than in controls (0.143 vs. 0.041, respectively; OR
=3.01; 95% CI = 1.74–5.23; P =2.9 × 10^{-4}). Despite the Asp298 genotype in a recessive
model associated with the presence of preeclampsia in Maya mestizo women, we
believe that in this population the -786C-4b-Asp298 haplotype is a better
genetic marker.
Keywords: Preeclampsia, maya-mestizo women, polymorphisms of eNOS, eNOS haplotypes.
DOI: 10.3233/DMA-2011-0804
Journal: Disease Markers, vol. 31, no. 2, pp. 83-89, 2011
Received 31 August 2011
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Accepted 31 August 2011
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Published: 2011
