OBJECTIVEThe results of studies on association between -148C/T polymorphism in promoter region of beta-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis. Data sources Genetic association studies evaluating the beta-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI. Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis.

RESULTSEleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (chi(2) = 17.82, P = 0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95% CI 1.12 to 1.55, P = 0.0008). In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95% CI 0.29 to 0.54, P < 0.001), higher than that of -148C/C homozygous ones.

CONCLUSIONSbeta-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on beta-fibrinogen polymorphisms and cerebral infarction with large sample size are required.

Cerebral Infarction ; genetics ; China ; ethnology ; Fibrinogen ; analysis ; genetics ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Genetic

OBJECTIVETo examine the distribution of IL-1 genotypes among the people with Han nationality of different periodontal health status and to evaluate if there is an association between the genotype of IL-1 and the severity of periodontitis.

METHODS271 subjects of Han nationality were selected, among them there were 182 cases of chronic periodontitis and 89 subjects of periodontal healthy control. Full periodontal examinations were taken including full-mouth clinical attachment loss measurements, probing depths and bleeding on probing. DNA samples were obtained with buccal swabbing technique and were further analyzed for IL-1 genotype polymorphisms using PCR-RFLP-based method.

RESULTSThe results showed a significant increase in the frequency of IL-1A-889/Nco I allele 2, IL-1B + 3953/Taq I allele 2, IL-1B-511/Ava I allele 2, IL-1A-889 plus IL-1B-511 allele 2 and IL-1B + 3953 plus IL-1B-511 allele 2 in patients with severe chronic periodontitis as compared with periodontally healthy controls.

CONCLUSIONFindings from this study bring into question the usefulness of the genotypes of allele 2 of IL-1A-889, IL-1B-511 and IL-1B + 3953 as a method for determining the susceptibility of Chinese patients to chronic periodontitis. There is a possible role of IL-1 gene polymorphisms in the susceptibility to chronic periodontitis for some patients.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Chronic Disease ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-1 ; genetics ; Male ; Middle Aged ; Periodontitis ; ethnology ; genetics ; Polymorphism, Genetic

BACKGROUNDTumor necrosis factor alpha (TNFalpha) is an important proinflammatory cytokine that has been implicated in the pathogenesis of inflammatory bowel disease (IBD). Recent studies have evaluated the role of TNF promoter polymorphisms in IBD, whereas the data are inconsistent. Trans-racial mapping in an ethnically distinct but homogenous population may help clarify these associations. We investigate the association between TNF promoter polymorphisms and susceptibility to ulcerative colitis (UC) in the Chinese Han ethnic population.

METHODSWe studied 110 unrelated UC patients and 292 healthy controls from Zhejiang Province, China. Genotyping for 6 common TNF promoter polymorphisms (TNF -1031T/C, -863C/A, -857C/T, -380G/A, -308G/A, -238G/A) was carried out by polymerase chain reaction sequence-specific primers (PCR-SSP).

RESULTSTNF -308A was associated with disease (allele frequency patients 14.6% vs controls 8.9%, P = 0.02). TNF -857T was increased in patients but without statistical significance (allele frequency 17.3% vs 12.2%, P = 0.06). Haplotype analysis revealed 6 haplotypes including two (H5 and H3), which contained TNF -308A. H5 was associated with disease (haplotype frequency patients -12.3% vs controls 7.5%, P = 0.03). Of note the rare haplotype H3 has not previously been identified in Caucasian populations. Homozygosity for the haplotype H4 comprising the common alleles at each TNF promoter single-nucleotide polymorphism (SNP) was negatively associated with disease (patients vs controls 24.5% vs 34.9%, P < 0.05).

CONCLUSIONSWe report the association with TNF -308A polymorphisms in Chinese patients with ulcerative colitis. The functional study in Chinese Han ethnic population is now required.

China ; ethnology ; Colitis, Ulcerative ; genetics ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Polymorphism, Genetic ; Tumor Necrosis Factor-alpha ; genetics

OBJECTIVETo study the distribution of HLA-DRB1 allele polymorphism in Uyghur women with family history of cervical cancer, and provide theoretical evidence for detection and follow-up of high risk persons for cervical cancer by detection of HLA-DRB1 allele polymorphism.

METHODSThe HLA-DRB1 13 alleles were detected in 1000 Uyghur women, all from Hotan Moyu county Karsay village by using polymerase chain reaction sequence-specific oligonucleotide (PCR-SSO) assay.

RESULTSThe frequencies of HLA-DRB1*15 in women with family history of cervical cancer (17.3%), mother (18.0%) and other relatives except mother (17.0%) who had suffered from cervical cancer were significantly higher than that in the control group (9.7%, all P < 0.05). The frequencies of HLA-DRB1*04 in women with family history (16.8%) and other relatives except mother (20.7%) were significantly higher than that in the control group (12.7%, all P < 0.05). The frequencies of HLA-DRB1*03 in women with family history (2.6%) and other relatives except mother (1.1%) were significantly lower than that in the control group (6.3%, all P < 0.01). The frequencies of HLA-DRB1*12 in women with family history of cervical cancer (2.3%) and mother suffered from cervical cancer (1.5%) were significantly lower than that in the control group (5.7%, all P < 0.05). The frequencies of HLA-DRB1*14 in women with family history of cervical cancer (5.4%) and mother who suffered from cervical cancer (3.0%) were significantly lower than that in the control group (8.4%, all P < 0.05).

CONCLUSIONSThere are similarity and difference in distribution of HLA-DRB1 allele polymorphisms between the Uyghur women with family history of cervical cancer from Hotan Moyu county and those from southern Xingjiang area. In general, the distribution of HLA-DRB1 allele polymorphism in women with family history of cervical cancer is similar to that reported in abroad. The results of this study support the role of susceptible and protective HLA gene detection in screening high risk persons for this cancer among Uyghur women from cervical cancer high risk areas in Xinjiang.

Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DRB1 Chains ; genetics ; Humans ; Polymorphism, Genetic ; Uterine Cervical Neoplasms ; genetics ; immunology

OBJECTIVETo assess the association of human leukocyte antigen DQ gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou region.

METHODSFifty couples with URSA (URSA group) and 66 couples with normal pregnancy history (control group) were recruited. The alleles of HLA-DQA1 and HLA-DQB1 were analyzed by polymerase chain reaction with specific sequence primers (PCR-SSP) in all subjects. The frequency distribution of HLA-DQ alleles, odds ratios (OR) between each group and sharing of HLA-DQ alleles were calculated.

RESULTSThe frequency distribution of HLA-DQB1*03:03 allele in the females with URSA was significantly higher than that healthy females (21.00% vs. 9.85%, OR=2.433, 95%CI: 1.232-4.894, χ(2)=5.657, P<0.05). The HLA-DQB1*05:03 allele was present among the healthy females with a frequency of 3.03%, and was not detected among females with URSA. For both males and females, the HLA-DQB1*05:02 allele were only typed in control group with frequencies of 6.06% and 5.30%, respectively. The sharing of HLA-DQA1 alleles in couples with URSA was increased compared with the control group (70.27% vs. 44.64%, OR=2.931, 95%CI: 1.216-7.067, P<0.05).

CONCLUSIONThe increased sharing of HLA-DQA1 alleles may contribute to the susceptibility of URSA among ethnic Han Chinese from Wenzhou region. The allele of HLA-DQB1*03:03 in the females may be predisposing factor for URSA. However, the HLA-DQB1*05:02 allele in both gender and HLA-DQB1*05:03 allele in females may confer a protective effect.

Abortion, Spontaneous ; ethnology ; genetics ; Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; HLA-DQ alpha-Chains ; genetics ; HLA-DQ beta-Chains ; genetics ; Humans ; Male ; Polymorphism, Genetic ; Pregnancy

OBJECTIVETuberculosis is still a public health problem. Host genetic factors, such as polymorphisms in NRAMP1 gene, may play a role in the development of tuberculosis. To clarify the effect of NRAMP1 gene polymorphisms on the development of childhood tuberculosis, the association of NRAMP1 gene polymorphisms with susceptibility to tuberculosis in the ethnic Han Chinese children was investigated.

METHODSFrom January 2005 to March 2008, 130 ethnic Han children with tuberculosis (TB group) were enrolled. Three hundred and ninety hospitalized ethnic Han children for physical examination in the surgery department were used as the control group. The controls were matched with tuberculosis children by age, sex and area. PCR-RFLP analysis was performed on DNA samples to identify allele genotypes of INT4 and D543N in NRAMP1 gene. Genotype frequency differences between tuberculosis patients and controls were analyzed using x2 test.

RESULTSNo statistical difference was found in the genotype frequency of variants G/C and C/C at the INT4 locus between the TB and the control groups. At the D543N locus, the frequency of genotype variants (G/A and A/A) was significantly higher in the TB group (34/130) than that in the control group (66/390) (x2=5.349, P<0.05; OR=1.74, 95%CI=1.08-2.79). When stratified by sex, differences in the genotype distribution were observed only in females at the D543N locus, which the variant genotypes were higher in the TB group (16/52) than in the control group (21/155) (x2=7.866, P<0.05; OR=2.84, 95%CI=1.34-5.99). For males, there was no difference between the TB and the control groups. At the INT4 locus, no difference was observed between the two groups in boys and girls.

CONCLUSIONSGenotypic variation at the D543N locus in NRAMP1 gene may be associated with susceptibility to tuberculosis in ethnic Han Chinese children. Variant genotypes in NRAMP1 gene (G/A and A/A) may be susceptible genotypes to tuberculosis in ethnic Han Chinese children. Girls with variant genotypes were more susceptible to tuberculosis.

Cation Transport Proteins ; genetics ; Child ; Child, Preschool ; China ; ethnology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Polymorphism, Genetic ; Sex Factors ; Tuberculosis ; ethnology ; genetics

OBJECTIVETo investigate the association between M235T and G-6A polymorphism of AGT gene, insertion/deletion (I/D) polymorphism of ACE gene, Gly460Trp polymorphism of ADD1 gene, C825T polymorphism of GNB3 gene and essential hypertension in Xinjiang Kazakhs group as well as to identify the interactions of gene-gene and gene-environment.

METHODSA case-control study (n = 441) was performed in 241 cases and 202 controls. Polymerase chain reaction and restrict fragment length polymorphism (PCR-PFLP) technique were used to detect the genotypes polymorphism.

RESULTSComparing the frequencies of alleles and genotypes, there were no statistical significances except frequency of allele of M235T (P = 0.0483) identified. In logistic regression analysis, there were significant differences in all of the loci. The 4 loci model (AGE/CHO/G-6A/ACE) appeared the best model in MDR analysis.

CONCLUSIONOur research data showed that the polymorphisms of all the four genes might be associated with hypertension in the Kazakhs group of Xinjiang while there might be interactions existed in AGT, ACE, AGE and CHO.

Alleles ; China ; epidemiology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Hypertension ; ethnology ; genetics ; Middle Aged ; Polymorphism, Genetic

OBJECTIVETo investigate the polymorphism of delta-aminolevulinic acid dehydratase(ALAD) and the genetic susceptibility to lead toxicity in Uighur and Yi population in China.

METHODSThe ALAD genotypes were determined by PCR and MspI restriction fragment length polymorphism techniques in 214 Uighur individuals from Xinjiang autonomous region and 144 Yi individuals from Yunnan province. The correlation between the polymorphism of ALAD and blood lead levels, and the factors affecting the latter were explored.

RESULTSThe frequencies of the allele ALAD1 and ALAD2 in Uighur are 0.91 and 0.09; and in Yi are 0.98 and 0.02 respectively. In Uighur the average blood lead level was (76 +/- 4) microgram/L, and 25.7% individuals with blood lead level > or = 100 micrograms/L. In Yi the average blood lead level was (50 +/- 16) microgram/L, and 6.3% individuals with blood lead level > or = 100 micrograms/L. However, no statistic correlation between the distribution of ALAD alleles and the blood lead level was found in both populations.

CONCLUSIONThe genetic susceptibility of ALAD polymorphism to lead toxicity may exhibit in a lead dose-dependent manner.

China ; ethnology ; Dose-Response Relationship, Drug ; Genetic Predisposition to Disease ; Humans ; Lead ; blood ; toxicity ; Polymorphism, Genetic ; Porphobilinogen Synthase ; genetics

Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) respectively. The results showed that there was significant difference in genotypes distribution frequency of SP-B1580C/T polymorphism locus between COPD smokers and control smokers. C-->T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9% vs 41.7%, chi2 = 4.93, P<0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1%) of SP-B1580-18A/C locus is lower than T allele (70.9%) in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85% and 15% respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-B-18A/C locus maybe varied with race.
Alleles ; China ; ethnology ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Polymorphism, Genetic ; genetics ; Pulmonary Disease, Chronic Obstructive ; genetics ; Pulmonary Surfactant-Associated Protein B ; genetics ; physiology ; Smoking ; genetics

OBJECTIVETo investigate the distribution characteristics of Y chromosome haplogroups in Sichuan Han population.

METHODSUsing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), denatured high performance liquid chromatography (DHPLC) and DNA sequencing methods, 18 Y-chromosome bialletic markers were detected to type Y chromosome haplogroups in 341 unselected men from Sichuan Han population.

RESULTSA total of 14 haplogroups were observed, in which haplogroups H2 and H4 were identified for the first time in Sichuan population, and haplogroups H14 and N* were found firstly in Chinese. There was a significant frequency difference of Y haplogroups between Sichuan Han population and Southern Han population.

CONCLUSIONMore comprehensive frequency distribution data of Y chromosome haplogroups are obtained in Sichuan Han population, which would be helpful for understanding the association of Y chromosome background and the susceptibility to male specific diseases such as spermatogenic failure, prostate cancer, testical cancer and so on in present population.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Chromosomes, Human, Y ; genetics ; Electrophoresis, Polyacrylamide Gel ; Ethnic Groups ; genetics ; Genetic Predisposition to Disease ; ethnology ; Haplotypes ; genetics ; Humans ; Male ; Mutation