OBJECTIVETo assess the association of haptoglobin (HP)1/2 polymorphism with coronary heart disease (CHD) in Chinese Hans.

METHODSOne hundred and eighty-nine CHD patients and 242 healthy controls confirmed with angiography were recruited. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was utilized to genotype the HP1 and HP2 alleles and genotype frequencies in cases and controls were compared.

RESULTSThe frequency of HP2-2 genotype was significantly higher in CHDs than in controls (0.54 vs.0.35, P = 0.000). The HP2-2 genotype significantly increased the risk for CHD in univariable analysis (OR = 2.166, 95%CI: 1.467-3.196). Multifactor Logistic regression analysis indicated that HP2-2 genotype is an independent risk factor to CHD (P = 0.002; OR = 2.101, 95%CI: 1.311-3.367). Similarly, the HP2 allele frequency in the CHD group was significantly higher than that in the control subjects (0.74 vs.0.61, P = 0.000).

CONCLUSIONThe HP2-2 genotype is associated with CHD in Chinese. HP2-2 genotype may be an independent risk factor to CHD, and HP2 allele may be a genetic susceptibility factor to CHD in Chinese.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Coronary Disease ; genetics ; Female ; Gene Frequency ; Genotype ; Haptoglobins ; genetics ; Humans ; Logistic Models ; Male ; Middle Aged ; Polymorphism, Genetic

OBJECTIVETo observe the polymorphism and gene frequency of interleukin 6 (IL6) gene -572C/G in Chinese Han nationality population, that associating with susceptibility to myocardial infarction(MI) and impacting on the extent of coronary artery lesions; to analyze the function of IL6 gene -572C/G polymorphism.

METHODSWith PCR-RFLP method, IL6 gene -572C/G polymorphism was genotyped to 232 MI patients and 260 healthy adults. The effect of IL6 gene -572C/G polymorphism was observed to the extent of coronary artery lesions and the ability of IL6 production from peripheral blood mononuclear cells (PBMC).

RESULTSThere was IL6 gene -572C/G polymorphism in Chinese Hans. -572CG+GG genotype and G allele were more frequent in patients than in controls (P< 0.01). The relative risk for G allele carrier to suffer from MI was 1.68 times of CC genotype individual (95%CI 1.17-2.41, P< 0.01). However, the distribution of IL6 gene -572C/G polymorphism was no significant difference among patients with single-vessel, two-vessel and three-vessel lesions (P> 0.05). After PBMC cultured for 24 hours, the IL6 concentration in supernatant was significantly higher in subjects with CG genotype than those with CC genotype (P< 0.05).

CONCLUSIONIL6 gene -572G allele may be a genetic susceptibility factor to MI attack of Chinese Hans population, and related to the high expression of IL6.

Aged ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Interleukin-6 ; genetics ; Male ; Middle Aged ; Myocardial Infarction ; genetics ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; genetics

Adult ; Aged ; Female ; Hepatitis, Chronic ; mortality ; therapy ; Humans ; Liver Failure ; therapy ; Male ; Middle Aged ; Prognosis ; Sorption Detoxification ; Survival Rate

OBJECTIVETo explore the relationship between interleukin-6 (IL-6) gene polymorphisms and the risk of coronary heart disease (CHD).

METHODSIL-6/-597G/A and -572C/G polymorphisms were genotyped in 245 CHD patients and 260 healthy adults by PCR-RFLP. Serum IL-6 level was examined by ELISA. Logistic regression was performed to observe the relationship between IL-6/-572C/G polymorphism and other risk factors of CHD.

RESULTSIL-6/-597G/A genotype was similar between the two groups. The frequencies of IL-6/-572C/G genotype and G allele were more frequent in patients with CHD than that in controls (P < 0.01). Compared with CC genotype, the relative risk for CHD in people with CG and GG genotypes was 1.46 (95% CI: 1.01 - 2.10, P < 0.05) and 5.19 (95% CI: 1.69 - 15.89, P < 0.01), respectively. The serum levels of IL-6 were similar between carriers of the IL-6/-572G allele and patients with CC genotype (P > 0.05). IL-6/-572 C/G is related to total cholesterol (OR 1.76, 95% CI: 1.05 - 3.16, P < 0.05) and triglyceride (OR = 2.51, 95% CI: 1.04 - 6.45, P < 0.05), respectively.

CONCLUSIONIL-6/-597G/A polymorphism was not associated with susceptibility to CHD, but IL-6-572C/G polymorphism may be a possible genetic susceptibility factor for CHD in Chinese Hans population.

Adult ; Aged ; Aged, 80 and over ; Alleles ; Coronary Disease ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-6 ; blood ; genetics ; Male ; Middle Aged ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide

OBJECTIVETo ascertain whether other variations coexist with 1555(A--> G) mutation in the mitochondrial DNA and may aggravate the severity of hearing loss or increase the penetrance of 1555(A--> G) mutation in a large family with maternally inherited nonsyndromic deafness in Huaiyin, Jiangsu province.

METHODSPCR-restriction fragment length polymorphism (PCR-RFLP) was used to screen both the nt1555 and the nt7445 of the mitochondrial DNA from 27 maternal members in the core family; and then the mitochondrial genomes from two maternal members, and the 12S rRNA genes MTRNR1 and tRNA-Ser(UCN) gene MTTS1 from the others, were amplified by PCR-RFLP and were sequenced.

RESULTS1555(A--> G) mutation in the mitochondrial DNA was reverified to be one of the major factors which cause maternally inherited nonsyndromic deafness and the cosegregation of 955-960(insC) and 1555(A--> G) was present in this family. Moreover, 7449 (insG), a novel homoplasmic mutation in the tRNA-Ser(UCN) gene, was found to co-exist with 1555(A--> G) mutation in two maternal members.

CONCLUSIONThe cosegregation of 955-960(insC) and 1555(A--> G) implies that 955-960(insC) may synergistically cause hearing loss in the presence of an 1555(A--> G) mutation, serving as an aggravating factor to enhance the sensitivity to aminoglycosides, and may sometimes increase the penetrance of 1555(A--> G) mutation.

DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; genetics ; Female ; Genetic Predisposition to Disease ; Genome, Mitochondrial ; genetics ; Humans ; Male ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Sequence Analysis, DNA

OBJECTIVETo ascertain whether connexin 26 (Cx26) gene was a nuclear modifier gene in an extensive family with matrilineal nonsyndromic deafness associated with A1555G mutation in Huaiyin, China.

METHODSFollowing PCR-restriction fragment length polymorphism (PCR-RFLP) with ApaI restriction enzyme, Cx26 genes from 26 cases, with A1555G mitochondrial mutations in this family, and 62 controls (including 2 patrilineal relatives, 10 spouse controls and 50 unrelated controls), were sequenced.

RESULTSCompared with the reference sequence of Cx26 gene, totally four kinds of nucleotide changes,79G -->A, 109G-->A, 341G-->A and 235delC, were detected in a heterozygous form. However, the former three were previously reported polymorphisms, and only the 235delC was a previously described recessive mutation associated with most autosomal nonsyndromic sensorineural hearing loss in Japan and China. Further study showed that the heterozygous 235delC mutation existed in both one individual with mild hearing loss and two individuals with normal hearing. Clinical characterization showed that 235delC mutation did not seem to modify the deafness phenotype due to the A1555G mutation. Moreover, this 235delC mutation was deduced to derive from a married-in control. Finally, there were no co-segregation between the phenotypes of hearing loss and the genotypes for Cx26 genes based on the four kinds of nucleotide changes.

CONCLUSIONSThe heterozygous 235delC mutation of the Cx26 gene may not modulate the severity of hearing loss associated with A1555G mutation and Cx26 gene is unlikely to be a modifier gene for hearing loss due to A1555G mitochondrial mutation in this Chinese family.

Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Connexin 26 ; Connexins ; genetics ; Deafness ; epidemiology ; ethnology ; genetics ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Polymorphism, Restriction Fragment Length ; Sequence Analysis ; Young Adult

OBJECTIVETo investigate the association of thrombospondin-1 (TSP- 1) gene A8831G (N700S) polymorphism with coronary artery disease (CAD).

METHODSThis study was conducted with a case-control design including 178 patients with CAD (55 AMI) and 158 healthy subjects. The TSP-1 N700S polymorphism was determined by polymerase chain reaction and restriction fragment length polymorphism analysis.

RESULTSNo significant difference of the AG genotype in CAD group and control group (1.7% compared with 0.6%, P=0.375) was detected. None of the homozygotes was detected for the G allele. The prevalence of the G allele was not significantly different between CAD group and controls (0.8% compared with 0.3%, P=0.376). No significant difference of the AG genotype in AMI group and control group (3.6% compared with 0.6%, P=0.104). The prevalence of G allele was not significantly different between AMI patients and controls (1.8% compared with 0.3%, P=0.364).

CONCLUSIONThere are TSP-1 N700S polymorphisms in Chinese Zhejiang Han people, but the TSP-1 N700S variant shows a much lower prevalence compared with Western populations and may be not a potential risk for CAD and AMI.

Alleles ; Case-Control Studies ; Coronary Artery Disease ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Thrombospondin 1 ; genetics

OBJECTIVETo investigate the correlation between major histocompatibility complex (MHC) class I chain-related gene A (MICA) gene alleles matching rates and graft rejection in small intestine, liver and kidney transplantation.

METHODSGenome DNA were extracted from blood samples or pathological sections collected from donors and recipients of living-related transplantation, included 4 cases of small bowel transplantation, 5 cases of liver transplantation and 6 cases of kidney transplantation. The correlation between MICA alleles matching rates and acute graft rejection was analyzed following 13 MICA alleles determination by polymerase chain reaction based on sequence-specific primers (PCR-SSP).

RESULTSHLA zygosity of all donors and recipients was confirmed to be half-matching. The recipients displaying higher matching rates of MICA alleles with donors showed lighter clinical and pathological rejection and longer survival time. On the contrary, recipients with lower matching rates of MICA alleles with donors showed severer clinical and pathological rejection and shorter survival time relatively.

CONCLUSIONMatching rates of MICA alleles has negative relevance to acute rejection, and positive relevance to survival time of recipients in small bowel, liver, and kidney transplantation.

Alleles ; Graft Rejection ; genetics ; immunology ; Histocompatibility Antigens Class I ; genetics ; Humans ; Intestine, Small ; transplantation ; Kidney Transplantation ; immunology ; Liver Transplantation ; immunology ; Living Donors ; Organ Transplantation

AIMTo investigate the chemical constituents of the rhizomes of Beesia calthaefolia native to China in order to obtain a more comprehensive understanding of its effective components.

METHODSCompounds were isolated by column chromatography with silica gel. Their structures were elucidated by spectral analysis and chemical evidence. Compounds identified were subjected to pharmacological evaluation.

RESULTSTwo novel compounds were isolated and identified as (20S, 24S)-15 alpha-acetoxy-16 beta, 24; 20, 24-diepoxy-9, 19-cyclolanostane-3 beta, 25-diol-3-O-beta-D-xylopyranoside (I) and (20S, 24R)-15 alpha-acetoxy-9, 19-cyclolanostane-3 beta, 16 beta, 20, 24, 25-pentaol-3-O-beta-D-xylopyranoside (II), named beesioside O and beesioside P.

CONCLUSIONCompounds I and II are new compounds. Compounds I exhibited immunosuppressive activity and could inhibit angiogenesis as well as inhibit the proliferation of osteoblast. Compound II displayed remarkable inhibition activity against calcium channel receptor.

Angiogenesis Inhibitors ; chemistry ; pharmacology ; Animals ; Calcium Channel Blockers ; chemistry ; pharmacology ; Immunosuppressive Agents ; chemistry ; pharmacology ; Mice ; Molecular Conformation ; Molecular Structure ; Plants, Medicinal ; chemistry ; Ranunculaceae ; chemistry ; Saponins ; chemistry ; isolation & purification ; pharmacology

Objective To evaluate the yield of HIV antibody testing strategy currently used on different populations, in China. Methods (1) The following samples were collected and tested according to the currently used HIV antibody testing strategy in China. 103 133 samples from the general populations (outpatients, new recruits and blood donors), 1276 people under high risk (spouses of the HIV infected individuals, intravenous drug users) and 2323 biochemical or immunological abnormal samples. (2) Retrospective analysis was done on data from the HIV testing among outpatients in General Hospital of People's Armed Police Forces, from Jan., 2002 to Dec.,2008 and in three provincial central HIV test and confirmatory laboratories. Results (1) The yields of HIV antibody screening were significantly different in different populations. The probability of screening reactive to be true positive was 50% in high risk population, significantly higher than in the general population. The probability of screening reactive to be true positive was 19.58% in the confirmatory laboratory mainly towards the general population, but significantly lower than results from the confirmatory laboratories done on the high risk population. (2) From 2002 to 2008, in the General Hospital of People's Armed Police Forces, the probability of screening reactive to be true positive in the clinical HIV test was increasing from 3.7% to 16.0%, where as the efficiency of the repeat screening testing decreased from 92.6% to 61.5%. Conclusion The predictive value of HIV antibody screening reactive was significantly greater in high risk population than in general population. The precision of HIV antibody initial screening was substantially increased with the improvement of HIV antibody test kits and of quality control in the HIV test laboratories in recent years. It is suggested that different HIV test strategies to be implemented in different populations.