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

Volkov E.E., Gordeev M.V., Goloshchapov A.P., Romanova A.R., Nostaeva S.E.


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.
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).
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.
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).


aseptic necrosis of the femoral head, polymorphic loci, polymorphism of genes CALCR, COL1A1, VDR, LCT

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