Vitamin D Receptor (VDR) polymorphisms in the cardiac variant of gaucher disease

Allen Greenwood; Gheona Altarescu; Ari Zimran; Deborah Elstein

doi:10.1007/s00246-009-9538-7

Vitamin D Receptor (VDR) polymorphisms in the cardiac variant of gaucher disease

Allen Greenwood
, Gheona Altarescu
, Ari Zimran
, Deborah Elstein^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Type 3c Gaucher disease, an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves, is generally fatal in teenage-hood. Vitamin D Receptors (VDR) are involved in calcium transport. The purpose of this pilot was to ascertain if VDR polymorphisms (BsmI, TaqI, ApaI, and FokI) are associated with type 3c Gaucher disease. There was a higher incidence of wild type alleles of all polymorphisms. Although a very small series, results seem to confirm preponderance of the BsmI B allele in type 3c as in other aortic calcifications, but also implicate linkage between ApaI and BsmI genotypes.

Original language	English
Pages (from-to)	30-32
Number of pages	3
Journal	Pediatric Cardiology
Volume	31
Issue number	1
DOIs	https://doi.org/10.1007/s00246-009-9538-7
State	Published - Jan 2010
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Cardiac variant
Gaucher disease
Polymorphisms
Valvular calcifications
Vitamin D receptor

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10.1007/s00246-009-9538-7

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abstract = "Type 3c Gaucher disease, an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves, is generally fatal in teenage-hood. Vitamin D Receptors (VDR) are involved in calcium transport. The purpose of this pilot was to ascertain if VDR polymorphisms (BsmI, TaqI, ApaI, and FokI) are associated with type 3c Gaucher disease. There was a higher incidence of wild type alleles of all polymorphisms. Although a very small series, results seem to confirm preponderance of the BsmI B allele in type 3c as in other aortic calcifications, but also implicate linkage between ApaI and BsmI genotypes.",

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AU - Altarescu, Gheona

AU - Zimran, Ari

AU - Elstein, Deborah

PY - 2010/1

Y1 - 2010/1

N2 - Type 3c Gaucher disease, an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves, is generally fatal in teenage-hood. Vitamin D Receptors (VDR) are involved in calcium transport. The purpose of this pilot was to ascertain if VDR polymorphisms (BsmI, TaqI, ApaI, and FokI) are associated with type 3c Gaucher disease. There was a higher incidence of wild type alleles of all polymorphisms. Although a very small series, results seem to confirm preponderance of the BsmI B allele in type 3c as in other aortic calcifications, but also implicate linkage between ApaI and BsmI genotypes.

AB - Type 3c Gaucher disease, an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves, is generally fatal in teenage-hood. Vitamin D Receptors (VDR) are involved in calcium transport. The purpose of this pilot was to ascertain if VDR polymorphisms (BsmI, TaqI, ApaI, and FokI) are associated with type 3c Gaucher disease. There was a higher incidence of wild type alleles of all polymorphisms. Although a very small series, results seem to confirm preponderance of the BsmI B allele in type 3c as in other aortic calcifications, but also implicate linkage between ApaI and BsmI genotypes.

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KW - Polymorphisms

KW - Valvular calcifications

KW - Vitamin D receptor

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Vitamin D Receptor (VDR) polymorphisms in the cardiac variant of gaucher disease

Abstract

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Keywords

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