To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD).
We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset.
To dissect the molecular mechanisms of increased disease severity associated with the G allele, we characterized SPP1 mRNA and protein in DMD muscle biopsies of patients with defined rs28357094 genotype.
A promoter polymorphism of the osteopontin (OPN) gene (rs28357094) has been associated with multiple inflammatory states, severity of Duchenne muscular dystrophy (DMD) and muscle size in healthy young adults.
Overall, a significantly increased risk of urolithiasis was associated with OPN gene polymorphism rs1126616 for all the genetic models except recessive model.
Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC.
The aim of the study was to investigate the association of genotypes and alleles frequencies of OPN 9250 (rs1126616) and IL-17A 197 (rs2275913) genes polymorphisms with their serum levels, susceptibility, disease activity and severity in Egyptian SLE patients.
We demonstrate a significant contribution of the combination of SPP1 rs11439060 and rs9138 frequent alleles to risk of RA, the magnitude of the association being greater in patients negative for ACPAs.
While no association was found between SLE and the OPN 707 T/C and 1083 G/A polymorphisms, a significant association was identified between the OPN 1239 C allele and SLE (OR = 1.192, 95% CI = 1.008-1.410, p = 0.040), and between the OPN 9250 C allele and SLE in Asians (OR = 2.070, 95% CI = 1.570-2.730, p = 2.5 × 10<sup>-7</sup>).
We demonstrate a significant contribution of the combination of SPP1 rs11439060 and rs9138 frequent alleles to risk of RA, the magnitude of the association being greater in patients negative for ACPAs.
Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC.
Clinical data indicated that rs4754 and rs9138 of OPN were significantly associated with smoking (P = 0.029, OR 0.343, 95 % CI 0.127-0.926 and P = 0.029, OR 0.343, 95 %CI 0.127-0.926) and OPN rs1126772 revealed associations with tumor-node-metastasis (TNM) stage (P = 0.025, OR 1.765, 95 % CI 1.073-2.905) and tumor differentiation (P = 0.031, OR 1.722, 95 % CI 1.049-2.825).
The purpose of the present study was to explore the association of rs9138 (+1239; 3'UTR: 3'untranslated regions) and rs1126616 (+750; exon 7) polymorphisms located in the OPN gene with colorectal carcinoma (CRC) susceptibility and to investigate the correlation of the polymorphisms, plasma levels of the OPN protein, clinicopathologic parameters, tumor markers, and lipid.
We found that the rs1126616 single nucleotide polymorphism (SNP) of the <i>SPP1</i> gene is independently associated with a higher incidence of CVE in a cohort of CKD patients and that it could be used to predict CVE risk.