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Research paper
Published online: 2021-04-14
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The importance of NFκB1 rs4648068 and RUNX2 rs7771980 polymorphisms in bone metabolism of postmenopausal Polish women

Anna Bogacz, Aleksandra Gorska, Adam Kaminski, Marlena Wolek, Hubert Wolski, Agnieszka Seremak-Mrozikiewicz, Jaroslaw Goracy, Boguslaw Czerny
DOI: 10.5603/GP.a2021.0044
·
Pubmed: 33914303

open access

Ahead of Print
ORIGINAL PAPERS Gynecology
Published online: 2021-04-14

Abstract

Objectives: Osteoporosis is a multifactorial disease that causes a loss of bone density. However, genetic factors play an increasingly
important role in its development. To thoroughly understand the molecular mechanisms, polymorphic variants of
genes candidate for osteoporosis are still being sought. The aim of our study was to investigate the influence of NFκB1 gene
rs4648068 (A>G) and RUNX2 gene rs7771980 (-1025T>C) polymorphisms on the risk of osteoporosis.
Material and methods: A group of 675 postmenopausal Caucasian women (109 women with osteopenia, 333 with osteoporosis
and 233 with normal T-score) were examined. The bone mineral density (BMD) at the lumbar spine (L1-L4) was
measured by dual energy x-ray absorptiometry (DXA). The analysis of NFκB1 and RUNX2 polymorphisms was performed
using real-time PCR method.
Results: Analysis of NFκB1 gene rs4648068 polymorphism showed that the GG genotype was slightly more frequent in
the study groups compared to the control group. In the osteoporosis group, patients with the G allele in the genotype
have lower bone mineral density values. For the RUNX2 rs7771980 polymorphism, in women with osteopenia we observed
an increased incidence of TC heterozygotes compared to the control group (29.40% vs 24.90%, p > 0.05), and in women
with osteoporosis, the TT genotype was more common (78.70% vs 73.80%, p > 0.05). No correlation was observed between
the genotypes and the clinical parameters.
Conclusions: The analysis showed no significant relationship between the genotypic distribution and the individual
clinical parameters. However, it is suggested an association between the rs4648068 polymorphism of the NFκB1 gene and
an increased risk of developing osteoporosis.

Abstract

Objectives: Osteoporosis is a multifactorial disease that causes a loss of bone density. However, genetic factors play an increasingly
important role in its development. To thoroughly understand the molecular mechanisms, polymorphic variants of
genes candidate for osteoporosis are still being sought. The aim of our study was to investigate the influence of NFκB1 gene
rs4648068 (A>G) and RUNX2 gene rs7771980 (-1025T>C) polymorphisms on the risk of osteoporosis.
Material and methods: A group of 675 postmenopausal Caucasian women (109 women with osteopenia, 333 with osteoporosis
and 233 with normal T-score) were examined. The bone mineral density (BMD) at the lumbar spine (L1-L4) was
measured by dual energy x-ray absorptiometry (DXA). The analysis of NFκB1 and RUNX2 polymorphisms was performed
using real-time PCR method.
Results: Analysis of NFκB1 gene rs4648068 polymorphism showed that the GG genotype was slightly more frequent in
the study groups compared to the control group. In the osteoporosis group, patients with the G allele in the genotype
have lower bone mineral density values. For the RUNX2 rs7771980 polymorphism, in women with osteopenia we observed
an increased incidence of TC heterozygotes compared to the control group (29.40% vs 24.90%, p > 0.05), and in women
with osteoporosis, the TT genotype was more common (78.70% vs 73.80%, p > 0.05). No correlation was observed between
the genotypes and the clinical parameters.
Conclusions: The analysis showed no significant relationship between the genotypic distribution and the individual
clinical parameters. However, it is suggested an association between the rs4648068 polymorphism of the NFκB1 gene and
an increased risk of developing osteoporosis.

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Keywords

osteoporosis; polymorphism; NFκB1; RUNX2; postmenopausal women

About this article
Title

The importance of NFκB1 rs4648068 and RUNX2 rs7771980 polymorphisms in bone metabolism of postmenopausal Polish women

Journal

Ginekologia Polska

Issue

Ahead of Print

Article type

Research paper

Published online

2021-04-14

DOI

10.5603/GP.a2021.0044

Pubmed

33914303

Keywords

osteoporosis
polymorphism
NFκB1
RUNX2
postmenopausal women

Authors

Anna Bogacz
Aleksandra Gorska
Adam Kaminski
Marlena Wolek
Hubert Wolski
Agnieszka Seremak-Mrozikiewicz
Jaroslaw Goracy
Boguslaw Czerny

References (16)
  1. Sewerynek E, Stuss M. Obowiązujące wskazania do prewencji i leczenia osteoporozy pomenopauzalnej — choroby miliona złamań. Ginekologia i Perinatologia Praktyczna. 2016; 1(2): 45–55.
  2. Janiszewska M, Kulik T, Dziedzic M, et al. Osteoporoza jako problem społeczny – patogeneza, objawy i czynniki ryzyka osteoporozy pomenopauzalnej. Probl Hig Epidemiol. 2015; 96(1): 106–114.
  3. Doyle T, Kacmarynski K, Beckett E, et al. Osteoporosis Review. Primary Care Reports. 2019.
  4. Boroń D, Plewka A, Jędrusik P. Polimorfizm -643C/T genu RANKL i jego związek z osteoporozą u kobiet po menopauzie. Ann Acad Med Siles. 2014; 68(6): 415–423.
  5. Boyce BF, Xiu Y, Li J, et al. NF-κB-Mediated Regulation of Osteoclastogenesis. Endocrinol Metab (Seoul). 2015; 30(1): 35–44.
  6. Liu T, Zhang L, Joo D, et al. NF-κB signaling in inflammation. Signal Transduct Target Ther. 2017; 2.
  7. Zakłos-Szyda M, Budryn G, Grzelczyk J, et al. Evaluation of Isoflavones as Bone Resorption Inhibitors upon Interactions with Receptor Activator of Nuclear Factor-κB Ligand (RANKL). Molecules. 2020; 25(1).
  8. Witas HW, Wujcicka WI. Genetyczne wyznaczniki osteoporozy. Postępy Biol Komórki. 2007; 34(3): 495–509.
  9. Novack DV. Role of NF-κB in the skeleton. Cell Res. 2011; 21(1): 169–182.
  10. Auerkari EI, Suryandari DA, Umami SS, et al. Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women. SAGE Open Med. 2014; 2: 2050312114531571.
  11. Witkowska-Zimny M, Wróbel E, Przybylski J. Najważniejsze czynniki transkrypcyjne procesu osteoblastogenezy. Postępy Biol Komórki. 2009; 36(4): 695–705.
  12. Iotsova V, Caamaño J, Loy J, et al. Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2. Nat Med. 1997; 3(11): 1285–1289.
  13. Bustamante M, Nogués X, Agueda L, et al. Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women. Calcif Tissue Int. 2007; 81(4): 327–332.
  14. Lee HJ, Koh JM, Hwang JY, et al. Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women. Calcif Tissue Int. 2009; 84(6): 439–445.
  15. Pineda B, Hermenegildo C, Laporta P, et al. Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women. J Bone Miner Metab. 2010; 28(6): 696–705.
  16. Vaughan T, Reid DM, Morrison NA, et al. RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index. Bone. 2004; 34(6): 1029–1036.

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