| The First Part Study of correlation of NR1I2 gene polymorphisms with susceptibility to autoimmune disorders and primary nephrotic syndrome in Han people in Yunnan area Objective To investigate the correlation of NR1I2 gene polymorphisms with usceptibility to autoimmune disorders and primary nephroticsyndrome in Han people n Yunnan areaMethods A case-control study was performed including 104 patients with Lutoimmune disorders,67 patients with primary nephrotic syndrome and 118 healthy olunteers. Genomic DNAwas extracted from venous blood using DNA extraction kit nd G7635A, A11156C,T11193C typings were analyzed. Allelicand enotypicfrequencies analysis were applied to compare the difference between hecases and controls.ResultsAll Alleles and genotypes in controls were in line withHardy-Weinberg quilibium. The genotype frequencies of G7635 A in CTD cases and PNS cases were 57.5%,55.8%,5.7%的and 28.4%,46.6%,21.6% respectively for GG, GA, AA, which n controls 31.9%,46.6%,21.6%. The difference was statistically significant between he CTD and controls (P=0.008) and not between the PNS and controls(P=0.500). CTD risk of G allele was increased with odds ratio of 1.535(P=0.029,95%CI 044-2.256) compared with the A allele under an addictive model. The same was ander a dominant model, CTD risk of GG/GA genotype was increased with odds ratio of 3.807(P=0.003,95%CI 1.570-9.229) compared with the AA genotype. No association of NR1I2 G7635A and PNS was found under different genetic models, The genotype frequencies of A11156C and T11183C in CTD cases and PNS cases were 33.8%,48.5%,27.7% and 25.8%,56.1%,18.2% respectively for AA/TT, A.C/TC, CC/CC, which in controls 35.9%,42.7%,21.4%, and the difference was of statistical significance. The distribution of the A/T allele did not differ significantly between CTD cases 48.0% or PNS cases 53.8% and controls 57.2%(P=0.054 and D.520).Conclusion In Yunnan area, NR1I2 gene G7635A polymorphisms is associated with CTD, but the exact mechanisms are still unclear. NR1I2 gene A11156C and T11193 polymorphisms might be involved in pathogenesis of CTD, and this might need more research with lager sample sizes to prove. The study displayed no association of NR1I2 G7635A, A11156C and T11193C polymorphisms with predisposition to PNS.The Second Part Association of NR1I2 gene polymorphisms and susceptibility to glucocorticoid-induced osteoporosisObjective To study the relationship between NR1I2 gene G7635A, Al 1156C, Tl 1193C polymorphisms and glucocorticoid-induced osteoporosisMethods 72 individuals receiving glucocorticoids treatment were included, jenomic DNAwas extracted from venous blood using DNA extraction kit and the SIR1I2 G7635A, A11156C, T11193C DNA types were analyzed. Bone mineral iensity was assessed by DXA. Correlations between the genotype and allele iistribution of the three sites and GIOP were analyzed.Results There were 72 individuals receiving GC treatment, of which 20 cases with osteoporosis and the other 52 with normal bone mass. The account of ssteoporosis with different type of GC treatment were compared by Mann-Whitney U :ests, and GIOP was related with dosage and duration of GC(P<0.001). There is no significant difference of G7635A GG, GA and AA genotype between OP group 30.0%,55.0%,15.5%and NOP group 21.2%,61.5%,17.3%(P=0.730). The frequencies of allele A were found to be 42.4% in OP and 48.1% in NOP respectively, 3nd there was no statistically significant difference between the two group (P=0.548). Die distribution of A11156C and T11193C genotypes in OP 30.0%,40.0%,30.0% respectively for AA/TT, AC/TC, CC/CC and 26.0%,58.0%,16.0% in NOP.The difference between OP and NOP was not statistically significant (P=0.307). The frequencies of allele C/C in OP was 50.0% and in NOP 45.0%. Again, the difference was not statistically significant. In NOP group, BMD of L1-L4 was 1.161 ±0.107 in individuals with GG genotype of G7635A while 1.079+0.112 in GA genotype.The parameters showed a statistically significant difference(P=0.031). The BMD of L1-L4 had no significantly differences among the other genotypes (P>0.05).Conclusion GIOP is ubiquitous in individuals receiving GC treatment, especially the risk is higher in these taking irregular or long-term high dose. The study displayed no association of NR1I2 gene G7635A, A11156C and T11193C with GIOP. |
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