The Association Between Angiotensin-converting Enzyme Gene Polymorphism And Han Children In Shanxi Province With Henoch-Schonlein Purpura And Henoch-Schonlein Purpura

ObjectiveTo learn the clinical phenotype and the geographical distribution of henoch-Schonlein purpura (HSP) of Han Children in Shanxi Province, and to explore the correlation between ACE insertion/deletion polymorphism and Shanxi Han children HSP's genetic susceptibility and clinical phenotype and preliminary analysis the relevance of ACE insertion/deletion polymorphism and genetic susceptibility to HSPN, clinical and pathological types of HSPN.MethodsTotal genomic DNA was extracted from the peripheral blood leukocytes from 106 patients with HSP, HSPN, and 100 healthy children. Polymerase chain reaction (PCR) was used to detect ACE gene polymorphism and identify their genotype. Based on renal involvement or not, HSP was divided into non-HSPN and HSPN groups, direct counting method was used to calculate the ACE genotype and allele frequency in each group. Collecting important clinical datas including hematuria, proteinuria, renal function and renal pathological lesions of HSPN and according to the severity of different groups to compare each group the distribution of ACE genotype; the constitution difference among each group used Chi-square test or Fisher exact test and P<0.05 was statistically significance.Results1. Kidney-type was more common in the clinical classification of HSP of Shanxi Han Children (30.19%), followed by gastrointestinal-type (26.42%), and simple skin type, join type and mixed type accounted for 19.81%,13.21%and 10.37%, respectively.2. In the HSP group, the frequencies of ACE three genotypes (DD, DI, and II) were 19.81%, 54.71%and 25.48%, respectively, and the D allele and I allele frequencies were 47.17%and 52.83%, respectively. In the HSPN group, the frequency of DD, DI and II were resceptively 40.63%,46.88%and 12.49%and D allele and the I allele were 64.06%and 35.94%, respectively. And in the normal control group, the frequency of DD, DI and II were respectively 13%,56% and 31%and D allele and the I allele were respectively 41%and 59%. The results showed that the three ACE genotypes (DD, DI and II) and allele (D and I) frequency distribution was significantly different among the children with HSP, HSPN, and the normal control groups (P<0.05). Compared with each group, the distribution of ACE genotype in HSP group had no significant diference with HSPN and the normal control groups (P>0.0167). However, the frequency of DD genotype and D allele were significantly higher in the HSPN children than in the normal control group and the diference had statistical significance (P30/HP) groups, the frequency of DD, DI and II were 11.11%,77.78%,11.11% and 61.54%,38.46%,0%, respectively. D allele and I allele frequencies were 50%,50%and 80.77%,19.23%, respectively. In the small amount of proteinuria (urine protein<50mg/24h) and proteinuria (urine protein> 50mg/24h) group, the DD, DI and II genotype frequencies were respectively 9.09%,72.73%,18.18%and 75%,12.5%,12.5%, D allele and the I allele frequencies were rescetively 45.46%,54.54%and 81.25%,18.75%. In normal renal function (creatinine≤1.5mg/dl) and renal dysfunction (creatinine>1.5mg/dl) groups, the frequency of DD, DI and II were respectively 40%,45%,15%and 41.67%,50%,8.33%, D allele and I allele frequencies were rescetively 62.5%,37.5%and 66.67%,33.33%; in the mild glomerular lesion (Ⅰ-Ⅱgrade) and non-mild glomerular lesion (III-VI grade) groups, the frequency of DD, DI and II were respectively 18.18%,72.73%,9.09%and 64.71%,23.53%,11.76%, D allele and the I allele frequencies were respectively 54.55%,40.45%and 76.47%,23.53%. Among groups, DD genotype in the large number of proteinuria, hematuria and non-mild glomerular lesion groups was significantly higher than a small amount of proteinuria and trace hematuria and mild glomerular disease group, and the D allele frequency in the large number of proteinuria and hematuria were also significantly higher than a small amount of proteinuria and trace hematuria and the difference all had statistical significance (P<0.05). But the frequency distribution of ACE genotype and its allele was no significant difference between normal renal function and renal insufficiency groups (P>0.05).Conclusions1. Kidney-type was more common in the clinical classification of HSP in Shanxi Han Children.2. ACE gene polymorphism may be not related to the occurrence of HSP, systemic compilcation such as the involvement of skin, joint, gastrointestinal and other systemic compilcation of HSP.3. DD genetype and D allele may be the genetic susceptibility gene of the occurrence of HSPN.4. DD genetype and D allele may be the genetic susceptibility gene of the occurrence of massive proteinuria, hematuria and severe renal pathological lession of HSPN.5. ACE gene polymorphism may be not related to the change of renal function of HSPN.6. Allelic variation may be not the only deciding factor of the disease phenotype. Race, genetic background, sample size, case selection criteria, complex environmental factors and a number of uncertain factors may bring a certain extent influence on analyzing the relevance between ACE gene polymorphism and HSP and HSPN.