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Association of the rs3039851 Insertion/Deletion in the Gene PPP3R1, Which Encodes the Regulatory Calcineurin Subunit B Type 1, with Left Ventricular Mass in Polish Full-Term Newborns.


ABSTRACT:

Background

The five base-pair (bp) insertion/deletion (rs3039851) polymorphism in the PPP3R1 gene, which encodes calcineurin subunit B type 1, has been found to be associated with left ventricular hypertrophy (LVH) in hypertensive patients and in athletes. The aim of this study is to analyze the possible association between PPP3R1:rs3039851 polymorphism and left ventricular mass (LVM) in full-term healthy newborns.

Methods

The study group consisted of 162 consecutive, full-term, healthy newborns. Two-dimensional M-mode echocardiography was used to assess LVM. The PPP3R1:rs3039851 polymorphism was identified by PCR-RFLP in genomic DNA extracted from cord blood leukocytes.

Results

No significant differences were found between newborns homozygous for the reference allele (5I/5I, n = 135) and newborns carrying at least one 5D allele (n = 27) for LVM standardized for body mass, body length or body surface area (LVM/BM, LVM/BL or LVM/BSA, respectively). However, the frequency of PPP3R1:rs3039851 genotypes with a 5D allele (5I/5D + 5D/5D) among newborns with the largest LVM/BM or LVM/BSA (upper tertile) was statistically significantly higher compared with the prevalence in individuals with the lowest values of both indices (lower tertile).

Conclusions

Our results suggest that the PPP3R1:rs3039851 polymorphism may contribute to subtle variation in left ventricular mass at birth.

SUBMITTER: Goracy I 

PROVIDER: S-EPMC10216023 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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Association of the rs3039851 Insertion/Deletion in the Gene <i>PPP3R1</i>, Which Encodes the Regulatory Calcineurin Subunit B Type 1, with Left Ventricular Mass in Polish Full-Term Newborns.

Gorący Iwona I   Łoniewska Beata B   Lewandowska Klaudyna K   Boroń Agnieszka A   Grzegorczyk Małgorzata M   Nowak Robert R   Clark Jeremy Simon C JSC   Ciechanowicz Andrzej A  

Biomedicines 20230510 5


<h4>Background</h4>The five base-pair (bp) insertion/deletion (rs3039851) polymorphism in the <i>PPP3R1</i> gene, which encodes calcineurin subunit B type 1, has been found to be associated with left ventricular hypertrophy (LVH) in hypertensive patients and in athletes. The aim of this study is to analyze the possible association between <i>PPP3R1</i>:rs3039851 polymorphism and left ventricular mass (LVM) in full-term healthy newborns.<h4>Methods</h4>The study group consisted of 162 consecutive  ...[more]

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