Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages

Abstract A few years ago it was shown that disturbed metabolism of the vitamin D/receptor (VD/VDR) complex may be important in the etiology of spontaneous abortion, as well as in the etiology of recurrent miscarriages (RM). The goal of this study was to investigate the association between four mater...

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Autores principales:	Hubert Wolski, Grażyna Kurzawińska, Marcin Ożarowski, Aleksandra E. Mrozikiewicz, Krzysztof Drews, Tomasz M. Karpiński, Anna Bogacz, Agnieszka Seremak-Mrozikiewicz
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/db50e8e88ed841618d4ad1cbe9335b5d
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spelling	oai:doaj.org-article:db50e8e88ed841618d4ad1cbe9335b5d2021-12-02T13:19:30ZVitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages10.1038/s41598-021-84317-32045-2322https://doaj.org/article/db50e8e88ed841618d4ad1cbe9335b5d2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-84317-3https://doaj.org/toc/2045-2322Abstract A few years ago it was shown that disturbed metabolism of the vitamin D/receptor (VD/VDR) complex may be important in the etiology of spontaneous abortion, as well as in the etiology of recurrent miscarriages (RM). The goal of this study was to investigate the association between four maternal VDR polymorphisms as well as haplotypes settings and RM occurrence in a Polish population of women in reproductive age. A total of 230 women were recruited to this study (110 with RM, 120 consecutively recruited age-matched healthy women with at least two full-term pregnancies and with no history of miscarriages). DNA samples were genotyped for VDR polymorphisms: FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236). Significant differences in genotype distributions and allele frequencies between case and control groups were observed in VDR BsmI polymorphism (GG vs. GA and AA, OR = 0.56, p = 0.036 and OR = 1.49, p = 0.035, respectively). The best evidence of an association with RM prevention was observed for the TTGT haplotype, which was more frequent among controls than cases even after permutation test (0.09 vs. 0.017, p = 0.0024). Other haplotypes were also significantly more frequent in the control group: TGT (rs7975232, rs1544410, rs2228570), TG (rs7975232, rs1544410), TTG (rs731236, rs7975232, rs1544410), TT (rs731236, rs7975232). Our research indicated the possible role of VDR BsmI genetic polymorphism in RM etiology, suggesting at the same time the active role of maternal VD metabolism and its influence on pregnancy outcome. The significant influence of several maternal haplotypes was shown to prevent RM occurrence.Hubert WolskiGrażyna KurzawińskaMarcin OżarowskiAleksandra E. MrozikiewiczKrzysztof DrewsTomasz M. KarpińskiAnna BogaczAgnieszka Seremak-MrozikiewiczNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Hubert Wolski Grażyna Kurzawińska Marcin Ożarowski Aleksandra E. Mrozikiewicz Krzysztof Drews Tomasz M. Karpiński Anna Bogacz Agnieszka Seremak-Mrozikiewicz Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
description	Abstract A few years ago it was shown that disturbed metabolism of the vitamin D/receptor (VD/VDR) complex may be important in the etiology of spontaneous abortion, as well as in the etiology of recurrent miscarriages (RM). The goal of this study was to investigate the association between four maternal VDR polymorphisms as well as haplotypes settings and RM occurrence in a Polish population of women in reproductive age. A total of 230 women were recruited to this study (110 with RM, 120 consecutively recruited age-matched healthy women with at least two full-term pregnancies and with no history of miscarriages). DNA samples were genotyped for VDR polymorphisms: FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236). Significant differences in genotype distributions and allele frequencies between case and control groups were observed in VDR BsmI polymorphism (GG vs. GA and AA, OR = 0.56, p = 0.036 and OR = 1.49, p = 0.035, respectively). The best evidence of an association with RM prevention was observed for the TTGT haplotype, which was more frequent among controls than cases even after permutation test (0.09 vs. 0.017, p = 0.0024). Other haplotypes were also significantly more frequent in the control group: TGT (rs7975232, rs1544410, rs2228570), TG (rs7975232, rs1544410), TTG (rs731236, rs7975232, rs1544410), TT (rs731236, rs7975232). Our research indicated the possible role of VDR BsmI genetic polymorphism in RM etiology, suggesting at the same time the active role of maternal VD metabolism and its influence on pregnancy outcome. The significant influence of several maternal haplotypes was shown to prevent RM occurrence.
format	article
author	Hubert Wolski Grażyna Kurzawińska Marcin Ożarowski Aleksandra E. Mrozikiewicz Krzysztof Drews Tomasz M. Karpiński Anna Bogacz Agnieszka Seremak-Mrozikiewicz
author_facet	Hubert Wolski Grażyna Kurzawińska Marcin Ożarowski Aleksandra E. Mrozikiewicz Krzysztof Drews Tomasz M. Karpiński Anna Bogacz Agnieszka Seremak-Mrozikiewicz
author_sort	Hubert Wolski
title	Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
title_short	Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
title_full	Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
title_fullStr	Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
title_full_unstemmed	Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
title_sort	vitamin d receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/db50e8e88ed841618d4ad1cbe9335b5d
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Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages

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