| BackgroundSingle nucleotide polymorphism is a DNA sequence variation occurring in a single nucleotide-A, T, C, G, which including transitions, transversions, insertions and deletions. The frequency of occurrence of this variation is more than1%in the crowd. It is an abundant form of DNA variation throughout the genomes, accounting for90%of the genetic polymorphism in the human genome. The detection technologies of SNP have been widely used in the study of human diseases, especially in genetic susceptibility of multi-gene complex diseases, such as cancer, rheumatism.SLC11A1(solute carrier family11, member1) is a bivalent cation (Fe2+, Zn2+and Mn2+) transporter, a highly pH-dependented, which fluxes metal ions in either direction against a proton gradient. Recently, it has been dectcted that SLC11A1is linked with multiple infectious diseases, such as tuberculosis, leprosy; and autoimmune diseases such as rheumatoid arthritis, sarcoidosis and Crohn’s disease, and so on.SGPP2exhibites an high phosphohydrolase activity against Sphingosine-1-phosphate (SIP). It has an N-terminal hydrophobic region, three conserved phosphatase-family motifs, and nine membrane-spanning segments. It is discovered that the SGPP2promoter has NF-κB sites. Silencing of SGPP2expression in endothelial cells led to a remakable reduction of TNF-α-induced IL-1β mRNA and protein and to a partial reduction of induced IL-8. It is indicated that SGPP2may play a role in the cytokine-mediated inflammatory responses.ObjectiveTo investigate the association between SLC11A1, SGPP2gene single nucleotide polymorphism and ankylosing spondylitis, rheumatoid arthritis in Chinese Han patients in ShanDong Province.Methods1. Four SNPs of SLC11A1(rs2695343, rs1059823) and SGPP2(rs2009150, rs13382934) were detected in278AS patients and279healthy controls by TaqMan probe assays. The allele frequencies and genotypes were analyzed by Chi-square test in AS and healthy controls.2. Four SNPs of SLC11A1(rs2695343, rs1059823) and SGPP2(rs2009150, rsl3382934) were detected in134RA patients and242healthy controls by TaqMan probe assays. The allele frequencies and genotypes were analyzed by Chi-square test in RA and healthy controls.Results1. The distribution of SLC11A1rs2695343in AS patients and healthy controls were in agreement with genomic balance (P=0.229, P=0.128) using HWE detection. The rs2695343genotype (A/A, A/G, G/G) frequencies in the AS patients were respectively11.1%,49.3%,39.6%, which were10.7%,50.2%,39.1%in healthy controls. No significant difference was found for the distribution of SLC11A1rs2695343between AS patients and healthy controls (x2=0.052, P=0.975). The frequency of rs2695343allele A or G in AS patients was also not significantly increased or decreased, compared with the healthy controls (x2=0.00, P=0.986).2. The distribution of SLC11A1rs1059823A/G in AS patients and healthy controls were in agreement with genomic balance (P=0.904, P=0.325) using HWE detection. The rs1059823genotype (A/A, A/G, G/G) frequencies in the AS patients were respectively43.9%,45.0%,11.1%, which were42.7%,47.3%,10.0%in healthy controls. No significant difference was found for the distribution of SLC11A1rs1059823between AS patients and healthy controls (x2=0.379, P=0.827). The frequency of rs1059823allele A or G in AS patients was also not significantly increased or decreased, compared with the healthy controls(x2=0.00, P=0.983).3. The distribution of SGPP2rs2009150in AS patients and healthy controls were in agreement with genomic balance (P=0.961, P=0.710) using HWE detection. The rs2009150genotype (G/G, G/T, T/T) frequencies in the AS patients were respectively32.4%,48.9%,18.7%, which were28.3%,48.7%,23.0%in healthy controls. No significant difference was found for the distribution of SGPP2rs2009150between AS patients and healthy controls (x2=1.956, P=0.376). The frequency of rs2009150allele G or T in AS patients was also not significantly increased or decreased, compared with the healthy controls(x2=1.933, P=0.164).4. The distribution of SGPP2rs13382934in AS patients and healthy controls were in agreement with genomic balance (P=0.129, P=0.508) using HWE detection. The rs13382934genotype (C/C, C/T, T/T) frequencies in the AS patients were respectively48.9%,39.2%,11.9%, which were50.2%,40.1%,9.7%in healthy controls. No significant difference was found for the distribution of SGPP2rs13382934between AS patients and healthy controls (x2=0.697, P=0.706). The frequency of rs13382934allele C or T in AS patients was also not significantly increased or decreased, compared with the healthy controls(x2=0.390, P=0.532).5. The distribution of SLC11A1rs2695343in RA patients and healthy controls were in agreement with genomic balance (P=0.342, P=0.171) using HWE detection. The rs2695343genotype (A/A, A/G, G/G) frequencies in the RA patients were respectively16.4%,43.3%,40.3%, which were10.3%,49.6%,40.1%in healthy controls. No significant difference was found for the distribution of SLC11A1rs2695343between RA patients and healthy controls (x2=3.281, P=0.194). The frequency of rs2695343allele A or G in RA patients was also not significantly increased or decreased, compared with the healthy controls (x2=0.644, P=0.422).6. The distribution of SLC11A1rs1059823in RA patients and healthy controls were in agreement with genomic balance (P=0.267, P=0.144) using HWE detection. The rs1059823genotype (A/A, A/G, G/G) frequencies in the RA patients were respectively44.0%,47.8%,8.2%, which were40.5%,49.6%,10.0%in healthy controls. No significant difference was found for the distribution of SLC11A1rs1059823between RA patients and healthy controls (x2=0.587, P=0.746). The frequency of rs1059823allele A or G in RA patients was also not significantly increased or decreased, compared with the healthy controls (x2=0.530, P=0.467).7. The distribution of SGPP2rs2009150in RA patients and healthy controls were in agreement with genomic balance (P=0.608, P=0.712) using HWE detection. The rs2009150genotype (G/G, G/T, T/T) frequencies in the RA patients were respectively32.8%,47.1%,20.1%, which were27.3%,48.8%,23.9%in healthy controls. No significant difference was found for the distribution of SGPP2rs2009150between RA patients and healthy controls (x2=1.523, P=0.467). The frequency of rs2009150allele G or T in RA patients was also not significantly increased or decreased, compared with the healthy controls(x2=1.525, P=0.217).8. The distribution of SGPP2rs13382934in RA patients and healthy controls were in agreement with genomic balance (P=0.283, P=0.473) using HWE detection. The rs13382934genotype (C/C, C/T, T/T) frequencies in the RA patients were respectively53.7%,36.6%,9.7%, which were49.2%,40.5%,10.3%in healthy controls. No significant difference was found for the distribution of SGPP2rs13382934between RA patients and healthy controls (x2=0.727, P=0.695). The frequency of rs13382934allele C or T in RA patients was also not significantly increased or decreased, compared with the healthy controls (x2=0.556, P=0.456).ConclusionNone of SNPs--rs2695343, rs1059823, rs2009150, rsl3382934were associated with AS or RA in Chinese Han population in ShanDong Province... |
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