Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head

Introduction Aseptic necrosis of the femoral head (ANFH) is a multifactorial disease, and genetic predisposition is one of these factors. Considering this circumstance, researchers search for identification of genetic markers of ANFH development. An objective of this research was to study the freque...

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Main Authors: Evgenii E. Volkov, Mikhail V. Gordeev, Andrei P. Goloshchapov, Svetlana E. Nostaeva, Al'bina R. Romanova
Format: Article
Language:English
Published: Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics 2018-09-01
Series:Гений oртопедии
Subjects:
VDR
LCT
Online Access:http://ilizarov-journal.com/index.php/go/article/view/3457/3627
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spelling doaj-9e55177da1db4622a231743694c0f4f42020-11-24T23:34:04ZengRussian Ilizarov Scientific Center for Restorative Traumatology and OrthopaedicsГений oртопедии1028-44272542-131X2018-09-0124333534010.18019/1028-4427-2018-24-3-335-340Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral headEvgenii E. Volkov,0Mikhail V. Gordeev1Andrei P. Goloshchapov2Svetlana E. Nostaeva3Al'bina R. Romanova4Medical Center HuangDi LLC, Moscow, Russian FederationBashkir Republican Branch of the National Professional Association of Specialists in Traditional Medicine and Health Practice, Ufa, Russian FederationSASI Institute of Strategic Studies of the Republic of Bashkortostan, Sterlitamak, Russian FederationMedical Center HuangDi LLC, Moscow, Russian FederationBashkir State University, Ufa, Russian FederationIntroduction Aseptic necrosis of the femoral head (ANFH) is a multifactorial disease, and genetic predisposition is one of these factors. Considering this circumstance, researchers search for identification of genetic markers of ANFH development. An objective of this research was to study the frequency of alleles and genotypes of polymorphic loci of 1377 C/T gene CALCR; -1997G/T, -1663indelT and +1245 G/T (Sp1) of gene COL1A1; -3731 A/G (Cdx2) и +283 G/A (BsmI) of gene VDR, and -13910 C/T of gene LCT in patients with ANFH and further analyze the association of the molecular-genetic markers under the study with the risk of developing this disease. Material and methods Analysis of association of alleles of genes for studying genetic predisposition to ANFH was carried out. Seven polymorphic markers in genes CALCR, COL1A1, VDR, LCT were detected by pyrosequencing method using the system of genetic analysis PyroMark Q24. Genotyping of 60 DNA samples of individuals with ANFH was conducted, frequencies of alleles and genotypes were determined. Results Genotype A/A of polymorphic locus +283 G/A (BsmI) of gene VDR (OR = 2.92; 95 % CI: 1.16–7.35) was associated with the risk of ANFH development as well as the carriage of allele A of this locus (OR = 1.55; 95 % CI: 1.02-2.37). It was also found that genotype G/G of polymorphic locus -3731 A/G (Cdx2) in gene VDR increased the risk of ANFH development more than twice (OR = 2.09; 95 % CI: 0.51-8.59); the carriage of the allele G of this polymorphic locus is associated with an elevated risk of ANFH (OR = 1.8; 95 % CI: 1.13-2.86). Discussion The results show that the analysis of the polymorphic loci +283 G/A (BsmI) and -3731 A/G (Cdx2) of VDR gene enables an early identification of persons at high risk of ANFH and, consequently, a possibility to prevent this disease. However, the involvement of certain genes in ANFH development requires further study, particularly given the sample sizes and ethnic specificity. Conclusion The risk of developing ANFH increased more than twice in the presence of genotype G/G of the polymorphic locus -3731 A/G (Cdx2) of VDR gene (OR = 2.09; 95 % CI: 0.51–8.59). Association of genotype A/A of locus +283 G/A (BsmI) of the gene of vitamin D receptor VDR with the risk of ANFH was established (OR = 2.92; 95 % CI: 1.16–7.35); it was also found that the A allele carriage was associated with an increased risk of ANFH (OR = 1.55; 95 % CI:1.02–2.37).http://ilizarov-journal.com/index.php/go/article/view/3457/3627aseptic necrosis of the femoral headpolymorphic locipolymorphism of genes CALCRCOL1A1VDRLCT
collection DOAJ
language English
format Article
sources DOAJ
author Evgenii E. Volkov,
Mikhail V. Gordeev
Andrei P. Goloshchapov
Svetlana E. Nostaeva
Al'bina R. Romanova
spellingShingle Evgenii E. Volkov,
Mikhail V. Gordeev
Andrei P. Goloshchapov
Svetlana E. Nostaeva
Al'bina R. Romanova
Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head
Гений oртопедии
aseptic necrosis of the femoral head
polymorphic loci
polymorphism of genes CALCR
COL1A1
VDR
LCT
author_facet Evgenii E. Volkov,
Mikhail V. Gordeev
Andrei P. Goloshchapov
Svetlana E. Nostaeva
Al'bina R. Romanova
author_sort Evgenii E. Volkov,
title Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head
title_short Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head
title_full Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head
title_fullStr Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head
title_full_unstemmed Study of polymorphic loci of CALCR, COL1A1, VDR, and LCT genes in patients with aseptic necrosis of the femoral head
title_sort study of polymorphic loci of calcr, col1a1, vdr, and lct genes in patients with aseptic necrosis of the femoral head
publisher Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics
series Гений oртопедии
issn 1028-4427
2542-131X
publishDate 2018-09-01
description Introduction Aseptic necrosis of the femoral head (ANFH) is a multifactorial disease, and genetic predisposition is one of these factors. Considering this circumstance, researchers search for identification of genetic markers of ANFH development. An objective of this research was to study the frequency of alleles and genotypes of polymorphic loci of 1377 C/T gene CALCR; -1997G/T, -1663indelT and +1245 G/T (Sp1) of gene COL1A1; -3731 A/G (Cdx2) и +283 G/A (BsmI) of gene VDR, and -13910 C/T of gene LCT in patients with ANFH and further analyze the association of the molecular-genetic markers under the study with the risk of developing this disease. Material and methods Analysis of association of alleles of genes for studying genetic predisposition to ANFH was carried out. Seven polymorphic markers in genes CALCR, COL1A1, VDR, LCT were detected by pyrosequencing method using the system of genetic analysis PyroMark Q24. Genotyping of 60 DNA samples of individuals with ANFH was conducted, frequencies of alleles and genotypes were determined. Results Genotype A/A of polymorphic locus +283 G/A (BsmI) of gene VDR (OR = 2.92; 95 % CI: 1.16–7.35) was associated with the risk of ANFH development as well as the carriage of allele A of this locus (OR = 1.55; 95 % CI: 1.02-2.37). It was also found that genotype G/G of polymorphic locus -3731 A/G (Cdx2) in gene VDR increased the risk of ANFH development more than twice (OR = 2.09; 95 % CI: 0.51-8.59); the carriage of the allele G of this polymorphic locus is associated with an elevated risk of ANFH (OR = 1.8; 95 % CI: 1.13-2.86). Discussion The results show that the analysis of the polymorphic loci +283 G/A (BsmI) and -3731 A/G (Cdx2) of VDR gene enables an early identification of persons at high risk of ANFH and, consequently, a possibility to prevent this disease. However, the involvement of certain genes in ANFH development requires further study, particularly given the sample sizes and ethnic specificity. Conclusion The risk of developing ANFH increased more than twice in the presence of genotype G/G of the polymorphic locus -3731 A/G (Cdx2) of VDR gene (OR = 2.09; 95 % CI: 0.51–8.59). Association of genotype A/A of locus +283 G/A (BsmI) of the gene of vitamin D receptor VDR with the risk of ANFH was established (OR = 2.92; 95 % CI: 1.16–7.35); it was also found that the A allele carriage was associated with an increased risk of ANFH (OR = 1.55; 95 % CI:1.02–2.37).
topic aseptic necrosis of the femoral head
polymorphic loci
polymorphism of genes CALCR
COL1A1
VDR
LCT
url http://ilizarov-journal.com/index.php/go/article/view/3457/3627
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