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Browsing by Author "Pereira, I"

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  • Higher Risk of Preterm Twin Delivery Among Shorter Nulliparous Women
    Publication . Simões, T; Pereira, I; Gomes, L; Brás, S; Nogueira, I; Queirós, A
    Objective: To determine if maternal height in nulliparous women influences pregnancy results in twin pregnancies. Material and methods: Retrospective cohort analysis evaluating twin pregnancies followed at Centro Hospitalar Universitário Lisboa Central, between 1995 and 2020. Of the 2900 pregnancies followed in that period, 886 nulliparous women with dichorionic twin pregnancies were selected. Two groups were considered: A - maternal height <163 cm (
    2024Journal article Open access Show more
  • Immune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male Infertility
    Publication . Cerván-Martín, M; Tüttelmann, F; Lopes, AM; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos-Ribeiro, S; Castilla, JA; Carmen Gonzalvo, M; Clavero, A; Maldonado, V; Vicente, FJ; González-Muñoz, S; Guzmán-Jiménez, A; Burgos, M; Jiménez, R; Pacheco, A; González, C; Gómez, S; Amorós, D; Aguilar, J; Quintana, F; Calhaz-Jorge, C; Aguiar, A; Nunes, J; Sousa, S; Pereira, I; Pinto, MG; Correia, S; Sánchez-Curbelo, J; López-Rodrigo, O; Martín, J; Pereira-Caetano, I; Marques, PI; Carvalho, F; Barros, A; Gromoll, J; Bassas, L; Seixas, S; Gonçalves, J; Larriba, S; Kliesch, S; Palomino-Morales, RJ; Carmona, FD
    We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.
    2022Journal article Open access Show more