In this pilot study the association of SF with 25 sequence variants within the following 9 genes: NRC31, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP4 were assessed.
Specifically the CALCR and the VDR genes are intriguing candidates to be involved in stress fracture pathogenesis.
List of the 25 genetic markers found to be significant different between the SF and the C groups, hence associated with SF pathogenesis: both SNPs and haplotypes analyses within the following 9 genes: NR3C1, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP Gen Genetic marker ([dagger])Data OR (95% CI, p-value) rs4244032 G/A (A/A) .94 (.39-.61, p = .04) SNP G/A (A/A-G/G) .58 (.38-.89, p = .01) NR3C1 G/C (G/G) .57 (.36-.91, p = .04) rs12656106 C/C (G/G) .54 (.29-.98, p = .04) G/C-C/C (G/G) .56 (.36-.87, p = .01) Hap.
Genetic research has been conducted on 475 females exhibiting LPH, CALCR, COL1A1, VDR genes, presence of which, according to previous research, is due to confirmed increased risk of osteoporosis.
Thus, frequency of the C/C genotype for LPH gene is 13.6%, for CALCR gene--only 4.3%, T/T for COL1A1 6.6% and BB for VDR gene is 12.7%.
Thus, frequency of genotype C/C for LPH gene totals 22.9% which is 90% greater than in the European nationality women group, for CALCR gene--65.6% as opposed to 4.2%, over 15-fold excess; T/T for COL1A1 gene--15.6% as opposed to 6.6%, 2.5-fold increase; and, finally, for VDR gene, BB genotype is 20.6% as opposed to 12.7% (1.5-fold increase).
In general, acquired data indicate a higher degree of hereditary risk of developing reduced BTMD in the examined populace, which is mainly related to the presence of homozygous C/C genotypes for LPH and CALCR, T/T for COL1A1 and BB for VDR in women of Turkic (mainly Kazakh) descent.
Similar results of the analysis of occurrence of various degrees of BTMD in relation to the CALCR gene alleles indicate that osteopenia is also more common among women with C/C alleles (84.5%).
Among the eleven candidate imprinting genes, the physiological functions of seven genes (CALCR, Grb10, HTR2A, KCNK9, MEST, PPP1R9A, and Sgce) are known, but four genes (Kcnq1, OSBPL5, SLC22A18, and UBE3A) are not yet well known in cattle.
Calcr, a brain-specific imprinted mouse calcitonin receptor gene in the imprinted cluster of the proximal region of chromosome 6.