STOX1 is not imprinted and is not likely to be involved in preeclampsia
I Iglesias-Platas, D Monk, J Jebbink, M Buimer, K Boer… - Nature …, 2007 - nature.com
I Iglesias-Platas, D Monk, J Jebbink, M Buimer, K Boer, J van der Post, F Hills, S Apostolidou…
Nature genetics, 2007•nature.com280 VOLUME 39| NUMBER 3| MARCH 2007| NATURE GENETICS nucleotide changes
reported by van Dijk et al. 1, with the exception of N825I (Table 1). This included the T> C
transition of the “highly mutagenic” Y153H variation, which van Dijk et al. 1 found at a similar
frequency in their controls. Although we did not specifically determine the parent of origin of
alleles in all cases, the presence of 69 CC homozygotes confirms a high frequency of
maternal inheritance in normal pregnancies. We also found 23 CC homozygotes in …
reported by van Dijk et al. 1, with the exception of N825I (Table 1). This included the T> C
transition of the “highly mutagenic” Y153H variation, which van Dijk et al. 1 found at a similar
frequency in their controls. Although we did not specifically determine the parent of origin of
alleles in all cases, the presence of 69 CC homozygotes confirms a high frequency of
maternal inheritance in normal pregnancies. We also found 23 CC homozygotes in …
280 VOLUME 39| NUMBER 3| MARCH 2007| NATURE GENETICS nucleotide changes reported by van Dijk et al. 1, with the exception of N825I (Table 1). This included the T> C transition of the “highly mutagenic” Y153H variation, which van Dijk et al. 1 found at a similar frequency in their controls. Although we did not specifically determine the parent of origin of alleles in all cases, the presence of 69 CC homozygotes confirms a high frequency of maternal inheritance in normal pregnancies. We also found 23 CC homozygotes in placentas from normotensive pregnancies. Allele frequencies were consistent in our cohorts of pathological and normal placentas (data not shown). In addition, we found two novel amino acid changes, S733I and S821I, in mothers with no history of pregnancy-induced hypertension or preeclampsia.
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