The Correlation between Blood Uric Acid and Goldstein Grading in Hepatolenticular Degeneration Patients with Different Chinese Medical Syndrome Types / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe blood uric acid levels and Goldstein grading, as well as their correlation in Wilson's disease (WD) patients with different Chinese medical syndrome types.</p><p><b>METHODS</b>Totally 906 WD patients in line with inclusive criteria were assigned to 6 groups, i.e., the heart spirit confused by phlegm group (HSCP, 26 cases), the phlegm-fire disturbing heart group (PFDH, 90 cases), the retention of damp-heat group (RDH, 113 cases), deficiency of qi and blood group (DQB, 168 cases), the deficiency of Gan-yin and Shen-yin group (DGYSY, 327 cases), the deficiency of Gan and Shen group (DGS, 182 cases) due to different Chinese medical syndrome types. Recruited were another 160 healthy subjects having similar ages and diet structures, who came for medical examinations, as the healthy control group. Venous blood was collected from the medial cubital vein of each-patient on an empty stomach in early mornings to detect blood uric acid levels. Results Blood uric acid levels were lower in each syndrome type group than in the healthy control group (146.08 +/- 67.24 micromol/L in the HSCP group; 157.08 +/- 69.77 micromol/L in the PFDH group; 162.58 +/- 97.72 micromol/L in the RDH group; 156.20 +/- 62.63 micromol/L in the DQB group; 161.83 +/- 111.23 micromol/L in the DGYSY group; 194.41 +/- 90.01 micromol/L in the DGS group; 242.39 +/- 87.55 micromol/L in the healthy control group, P < 0.01). Blood uric acid levels were higher in the DGYSY group than in the other 5 syndrome groups (P < 0.01). Correlation analyses between Goldstein grading and blood uric acid showed that, along with increased Goldstein grade (that was aggravating disease conditions), WD patients' blood uric acid levels decreased (P < 0.01).</p><p><b>CONCLUSIONS</b>WD patient's blood uric acid levels decreased more. Blood uric acid levels and Goldstein grading were different in various Chinese medical syndrome types. Blood uric acid levels had certain value in assessing the severity of WD.</p>

Study on genetic susceptibility of the single nucleotide polymorphism of FCGR3A gene and systemic lupus erythematosus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the role of FCGR3A gene in susceptibility to systemic lupus erythematosus (SLE) using family based studies.</p><p><b>METHODS</b>A total of 119 patients from 95 nuclear families, with SLE according to the American College of Rheumatology 1997 criteria were recruited. In addition, 316 family members of these patients were also genotyped. A family-based association study was used to explore the association between gene polymorphism and SLE. The authors studied the single nucleotide polymorphisms (SNP) encoding non-synonymous substitution in the cFCGR3A gene with respect to genetic susceptibility to SLE. The FCGR3A gene was genotyped with RFLP.</p><p><b>RESULTS</b>Among 119 SLE patients, the frequency of FCGR3A-72R/S, R and S allele were 39.4% and 60.6%; the frequency of FCGR3A R/S RR, RS and SS genotypes were 9.1%, 60.6% and 30.3%, respectively. Univariate (single marker) family-based association tests (FBATs) demonstrated that variant allele at the SNP(rs403016) in exon 3 of FCGR3A gene was significantly associated with genetic susceptibility to SLE in Additive Model(Z=2.544, P =0.01097) and Recessive Model(Z = 2.198, P = 0.02795). TDT analysis showed an excess of the allele of R from heterozygous parents to affected offspring (chi square was 9.30, P=0.0032).</p><p><b>CONCLUSION</b>The findings suggest that the FCGR3A gene may be the susceptible gene of SLE in Chinese population, and that the individual carrying FCGR3A 72R allele was significantly associated with increase of susceptibility to SLE.</p>

Association of angiotensin converting enzyme gene polymorphism with genetic susceptibility to systemic lupus erythematosus / 中华风湿病学杂志

Objective The aim of this study is to investigate the role of angiotensin-converting enzyme (ACE)gene susceptibility to systemic lupus erythematosus(SLE)by familial studies.Methods PCR-based re- striction fragment length polymorphism(RFLP)was applied to genotype single nucleotide polymorphism(SNP) G261T of the ACE gene.A total of 119 patients with SLE from 119 families were recruited.In addition,316 family members of these patients were also genotyped.A family-based association study was carried out to ex- plore the association between gene polymorphism and SLE.We studied the SNP encoding non-synonymous substitution in the ACE gene with respect to genetic susceptibility to SLE.Results Among 119 SLE patients. the frequency of ACEG261TG,T alleles was 44.8%.55.2% respectively,the frequency of ACEG261T GG,GT and TT genotypes was 13.9%,62.0%,24.1% respectively,Univariate(single-marker)family-based association test(FBAT)demonstrated that variant alleles at the SNP,rs4303,exon 5 of ACE gene were significantly asso- ciated with genetic susceptibility to SLE in Additive Model(Z=2.877,P=0.004),Dominant Model(Z=2.557, P=0.011).Recessive Model(Z=2.202,P=0.028).Transmission-disequilibrium test(TDT)and sib transmission -disequilibrium test(STDT)showed an excess of the allele of T from heterozygous parents to affected offspring or higher frequency of the allele of T in the patients than their normal siblings(X~2=11.66,P=0.001).Conclu- sion Our findings suggest that the ACE gene may he the susceptible gene to SLE in Chinese population,and the individuals carrying ACE-261T allele is significantly associated with susceptibility to SLE.