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Maternal and Fetal PROGINS Progesterone Receptor Polymorphism Reduces the Risk for Transient Tachypnea of the Newborn by Markus Alter, Thiemo Pfab, Florian Guthmann, Aline Burdack, Nina Kempiners, Philipp Kalk, Berthold Hocher

Background: Transient tachypnea of the newborn (TTN) is the most common perinatal respiratory disorder. It was suggested that the pathogenesis of TTN might involve altered activity of female sex hormones. This study analyzed whether the PROGINS progesterone receptor polymorphism, which is less responsive to progesterone, is associated with TTN.
Methods: A cohort of 2352 infants born to Caucasian women at the Obstetrics Department of the Charité was investigated prospectively. The collected information included the occurrence of respiratory disorders, birth weight, gestational age at delivery, mode of delivery, and maternal morbidity. Mothers and newborns were genotyped for the PROGINS progesterone receptor polymorphism. Statistical analyses considered correction for confounding factors.
Results: The presence of the mutated T2-allele either in mothers or in infants was associated with a reduction of the incidence of TTN in a gene dose-dependent manner (mothers T1/T1: 6.6 %, T1/T2: 4.3 % T2/T2: 2.3 %, p < 0.01; infants T1/T1: 6.5 %, T1/T2: 4.7 %, T2/T2: 0.0 %, p = 0.02 in a multivariable regression model). The total number of mutated T2-alleles present in a mother/child pair was associated with a reduction of TTN (4 T2-alleles: 6.4 %, n = 95; 3: 5.9 %, n = 30; 2: 3.1 %, n = 9; 1: 1.4 %, n = 1; 0: 0 %, n = 0; p < 0.01 in a multivariable regression model).
Conclusions: Both the maternal and fetal mutated alleles of the PROGINS progesterone receptor polymorphism seem to protect from TTN. The same phenotype occurs regardless of whether the mutation is localized in the mother or in the infant. Fetal as well as maternal T2-alleles synergistically reduce the risk for TTN in a gene dosedependent manner.

DOI: Clin. Lab. 2010;56:559-567