PURPOSE: The association of interleukin-10 (IL-10) polymorphisms (-1082G/A, -819C/T, -592A/C) and interleukin-6 (IL-6) poly-morphisms (-174G/C) with tuberculosis (TB) risk has been widely reported. However, the results are controversial. To clarify the role of these polymorphisms in TB, we performed a meta-analysis of all available and relevant published studies. MATERIALS AND METHODS: Based on comprehensive searches of the PubMed, Medline, Embase, Web of Science, Elsevier Science Direct and Cochrane Library database, we identified outcome data from all articles estimating the association between IL-10 and IL-6 polymorphisms and TB risk. RESULTS: The results indicated significant association of the allele model, heterozygous model and dominant model of IL-6 -174G/C polymorphism with decreased risk of TB. In the stratified analysis by ethnicity, significantly increased risk was observed for IL-10 -1082G/A polymorphism in Europeans under recessive model, for IL-10 -819C/T polymorphism in Asians under heterozygous model and dominant model and IL-10 -592A/C polymorphism in Asians under Allele model, homozygous model and recessive model. Moreover, significantly decreased risk of TB was associated with Asians for IL-6 -174C/G polymorphism in allele model, heterozygous model and dominant model. We also performed the analyses by sample types in IL-10 -1082G/A polymorphism, and observed significantly increased TB risk in mixed group under homozygous model. CONCLUSION: The results suggested that the IL-10 -1082G/A polymorphism is associated with increased TB risk in Europeans, while IL-10 -819C/T and IL-10 -592A/C polymorphisms in Asians. However, IL-6 -174G/C polymorphism might be a genetic risk factor that decreases TB susceptibility in Asians.
Alleles ; Asian Continental Ancestry Group/genetics/statistics & numerical data ; Case-Control Studies ; European Continental Ancestry Group/genetics/statistics & numerical data ; *Genetic Predisposition to Disease ; Humans ; Interleukin-10/*genetics ; Interleukin-6/*genetics ; Polymorphism, Genetic ; *Polymorphism, Single Nucleotide ; Risk Factors ; Tuberculosis/*ethnology/*genetics

OBJECTIVETo replicate the polymorphisms in risk genes of chronic rhinosinusitis in a Chinese Han population.

METHODSEnrolled in this study were CRS patients with nasal polyps (n = 306, CRSwNP), CRS patients without nasal polyps (n = 332, CRSsNP), and controls (n = 315) in a Chinese population. All the patients were recruited from clinic of the department of Otorhinolaryngology of Beijing Tongren Hospital between 2008 February and 2009 July. A total of 10 single nucleotide polymorphisms (SNPs) selected from previous identified SNPs associated with CRS in Canadian population were individually genotyped. Allele and genotype frequencies were calculated by frequency counting, the chi-square test or exact method were applied to analyze the results.Final results were corrected by Bonferroni multiple correction.SPSS 13.0 software was used for statistical analysis.

RESULTSOne SNP in AOAH gene(rs4504543, P = 1.95 × 10⁻⁵, OR = 0.559 0) was identified to be significantly associated with whole CRS cohort. After subgroup analysis for the presence of nasal polyps (CRSwNP and CRSsNP), the same SNP in AOAH (rs4504543, P = 3.47 × 10⁻¹², OR = 0.284 8) was also found to be significantly associated with CRSsNP cohorts.

CONCLUSIONSAOAH was significantly associated with CRS and its polymorphisms might play a role in the susceptibility to develop CRS in Chinese population.

Alleles ; Asian Continental Ancestry Group ; statistics & numerical data ; Canada ; epidemiology ; Chronic Disease ; Genotype ; Humans ; Nasal Polyps ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Rhinitis ; epidemiology ; genetics ; Sinusitis

OBJECTIVETo explore the heritability of body mass index (BMI) in twins across different regions and genders in China.

METHODSA total of 11 122 adult twin pairs from the Chinese National Twin Registry were interviewed. A structural equation model was used to estimate the heritability of BMI.

RESULTSThis study included 6 226 monozygotic twin pairs and 4 896 dizygotic twin pairs, with the age range as 25-85 (39.0 ± 10.8) years. Under stratified analysis by region, results showed that the highest and lowest rates on heritability of BMI in men were seen in Tianjin and Zhejiang, as 67.8% (95% CI: 50.1%-85.8%) and 42.1% (95% CI: 27.2%-60.9%), while in women were seen in Sichuan and Heilongjiang as 56.2% (95% CI: 47.5%-70.0%) and 11.2% (95% CI: 0.0%-31.7%), respectively. Results from the stratified analysis showed that, by gender, the heritability of BMI in men was higher than that in women from the same region. The biggest differences of heritability of BMI between men and women were seen in Heilongjiang as 55.3% (95% CI: 35.5%-80.0%) and 11.2% (95% CI: 0-31.7%), while the smallest differences were seen in Sichuan as 61.5% (95% CI: 40.7%-86.4%) and 56.2% (95% CI: 47.5%-70.0%), respectively.

CONCLUSIONThe heritability of BMI across different regions and genders showed certain differences in the Chinese twins.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Body Mass Index ; China ; Cities ; Female ; Humans ; Male ; Middle Aged ; Registries ; Twins, Dizygotic ; genetics ; statistics & numerical data ; Twins, Monozygotic ; genetics ; statistics & numerical data

OBJECTIVETo study the polymorphisms of human platelet antigen (HPA) 1-16 and human leukocyte antigen (HLA)-A and -B loci among ethnic Han population from Shandong.

METHODSA total of 588 samples from platelet donors were genotyped for the above loci with sequence-specific primer PCR and sequence-specific oligonucleotide probe PCR.

RESULTSThe frequencies of HPA-la, -1b, HPA-2a, -2b, HPA-3a, -3b, HPA-4a, -4b, HPA-5a, -5b, HPA-6a, -6b, HPA-15a, -15b were 0.9974, 0.0026, 0.9456, 0.0544, 0.5417, 0.4583, 0.9983, 0.0017, 0.9889, 0.0111, 0.9903, 0.0097, 0.5434 and 0.4583, respectively. The HPA-7-14 and HPA-16 showed no heterozygosity as the b allele was not detected in such loci. The most common genotypic combination for HPA was HPA-(1,4,7-14,16,17) aa-2aa-3ab-5aa -6aa-15ab (0.1820). HLA-A2 (0.3070) and HLA-B13 (0.1361) demonstrated the highest frequencies at their respective loci.

CONCLUSIONThe HPA and HLA loci are highly polymorphic among ethnic Hans from Shandong. The distribution of HPA polymorphisms also shows a great ethnic and territorial difference. It is important to construct regional database for the genotypes of HPA and HLA loci for platelet donors.

Alleles ; Antigens, Human Platelet ; genetics ; Asian Continental Ancestry Group ; genetics ; statistics & numerical data ; Blood Donors ; China ; Female ; Gene Frequency ; Genetics, Population ; Genotype ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; Humans ; Linkage Disequilibrium ; Male ; Polymorphism, Genetic

BACKGROUND/AIMS: The prevalence of diabetes in Korea is reported to be approximately 10%, but cases of maturity-onset diabetes of the young (MODY) are rare in Korea. A diagnostic technique for autosomal dominant MODY is being actively sought. In this regard, we used a DNA chip to investigate the frequency of mutations of the MODY3 gene (hepatocyte nuclear factor-1alpha) in Korean patients with early-onset type 2 diabetes. METHODS: The genomic DNA of 30 normal individuals [age, 24.9+/-8.6 years] and 25 patients with early-onset type 2 diabetes (age, 27+/-5.9 years) was extracted, and the MODY3 gene was amplified. The amplified DNA was hybridized onto a MODY3 chip, which has oligonucleotides of 15-25 bases, representing wild-type and mutant MODY3 sequences in both forward and reverse orientations, immobilized on its surface. RESULTS: Among the normal subjects, there was no mutation of MODY3. Among those with early-onset type 2 diabetes, there was one case of MODY3 mutation. CONCLUSIONS: Our results indicate that MODY3 mutations are not rare in Korean early-onset type 2 diabetes patients in Korea and suggest that MODY3 mutations in patients with early-onset type 2 diabetes need to be further evaluated.
Adolescent ; Adult ; Age of Onset ; Asian Continental Ancestry Group/genetics/*statistics & numerical data ; Case-Control Studies ; Cohort Studies ; Diabetes Mellitus, Type 2/*epidemiology/*genetics ; Female ; Hepatocyte Nuclear Factor 1-alpha/*genetics ; Humans ; Korea ; Male ; Mutation/*genetics ; Prevalence ; Young Adult

OBJECTIVETo investigate whether the polymorphisms of matrix metalloproteinase-2 (MMP-2) and -9 (MMP-9) promoters contribute to the development and progression of colorectal cancer in Chinese population.

METHODSthe PCR-based denaturing high-performance liquid chromatography or PCR-restriction fragment length polymorphism technique respectively was applied to analyze the MMP-2 -1306C/T and MMP-9 -1562C/T polymorphisms in normal group (126 individuals) and colorectal cancer group (126 cases). Genotype frequencies were compared between patients and matched controls, and the association of genotypes with clinical-pathological parameters was studied.

RESULTSThe frequency of the CC genotype in the MMP-2 gene polymorphism was significantly increased in colorectal cancer patients when compared with controls (P<0.05), and individuals with the CC genotype had an increased risk of developing colorectal cancer compared to those with CT+TT genotypes (OR: 1.959; 95%CI: 1.055-3.637). Significant correlation was found between the depth of tumor invasion and MMP-2 -1306C/T polymorphism in colorectal cancer patients. However, the genotype frequencies of MMP-9 -1562C/T in colorectal cancer patients were similar to those in control subjects.

CONCLUSIONOur results indicate that MMP-2 -1306 C/T polymorphism may be associated with genetic susceptibility to colorectal cancer and the invasive capability of colorectal cancer in Chinese patients. And it is easier for the CC genotype cancer to invade through bowel wall.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Colorectal Neoplasms ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Matrix Metalloproteinase 2 ; genetics ; Matrix Metalloproteinase 9 ; genetics ; Middle Aged ; Polymorphism, Genetic ; Statistics as Topic

PURPOSE: The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. MATERIALS AND METHODS: We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) scale were compared among patients according to SMN1 : SMN2 genotypes. RESULTS: There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1 : SMN2 genotype, 2 : 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2 : 0) was significantly younger (34+/-15.38 years) than that of patients with 2 : 1, 2 : 2 and 2 : 3 of the SMN1 : SMN2 genotype (59.5+/-5.09; 52.69+/-16.46 and 50+/-0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2 : 0 genotype (40%) than in the 2 : 1, 2 : 2 and 2 : 3 genotypes (83.3%, 100% and 100%) (p=0.02). CONCLUSION: The homozygous SMN2 deletion (2 : 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.
Adolescent ; Adult ; Age of Onset ; Amyotrophic Lateral Sclerosis/*epidemiology/*genetics ; Asian Continental Ancestry Group/*genetics/*statistics & numerical data ; Gene Deletion ; Homozygote ; Humans ; Middle Aged ; Republic of Korea/epidemiology ; Risk Factors ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult

OBJECTIVETo study the polymorphisms of cerebrovascular and cardiovascular disease genes using Taqman single nucleotide polymorphism (SNP) genotyping kits.

METHODSA total of 2000 subjects were recruited from the Guangzhou Biobank Cohort Study (GBCS), and 15 SNPs were detected using Taqman SNP genotyping kits and an ABI 7900HT real time PCR system. The data were tested for the Hardy-Weinberg equilibrium, and then compared with the data of the Chinese population from the International HapMap Project (HapMap_HCN).

RESULTS(1) All genotype data of the 15 SNPs were consistent with the Hardy-Weinberg rules. (2) The significant differences were observed among two SNPs, rs4220 and rs5368 and the HapMap_HCN (rs4220 28.2% vs 17.8%; chi(2) = 4.891, P = 0.028; rs5368 22.1% vs 32.2%, chi(2) = 5.137, P = 0.024). Comparing other gene bank data, such as AFD-CHN-PANEL, the Allele Frequency Database (ALFRED) and JBIC-allele, it would be most likely that our observations represent differences between the Northern and Southern populations in China.

CONCLUSIONSuch Biobank study provided a useful platform for the study of the role of genetic and environmental determinants on cerebrovascular and cardiovascular disease.

Asian Continental Ancestry Group ; genetics ; Biological Specimen Banks ; statistics & numerical data ; Brain Diseases ; epidemiology ; genetics ; Cardiovascular Diseases ; epidemiology ; genetics ; China ; epidemiology ; Cohort Studies ; Genetic Association Studies ; Genotype ; Humans ; Polymorphism, Single Nucleotide

PURPOSE: To investigate whether allelic polymorphism of haptoglobin (Hp) is associated with premature rupture of membrane (PROM), the Hp phenotypes of pregnant women with PROM were analyzed. PATIENTS AND METHODS: The Hp phenotypes of 221 pregnant Korean women (187 control and 34 PROM patients) were determined by benzidine/hydrogen peroxide staining, following native polyacrylamide gel electrophoresis of hemoglobin-mixed sera. The Hp allele frequencies were calculated from the data of Hp phenotypes, and overall association with PROM was evaluated using Pearson Chi-Square test. RESULTS: The polymorphic distribution of the patients cohort who underwent a normal delivery (control group) was similar to that of healthy Koreans. In contrast, however, patients with PROM showed significantly higher occurrence of the Hp 1-1 phenotype than control group (23.5% vs 8.0%). Hp 2-2 phenotype was lower in PROM cohort (38.2%) than in the control group (48.7%). The Hp1 allele frequency in PROM group was significantly higher than that in the control group (0.426 vs 0.297, p = 0.034) with odds ratio of 1.762 (95% CI: 1.038 - 2.991). CONCLUSION: These findings suggest that pregnant Korean women who possess Hp1 allele (expressed as Hp 1-1 phenotype) have higher incidence of PROM than women with Hp2 allele (expressed as Hp 2-2 phenotype). This is the first study that evaluated the significance of Hp polymorphism with respect to the development of PROM.
Adult ; Asian Continental Ancestry Group/*statistics & numerical data ; Female ; Fetal Membranes, Premature Rupture/*ethnology/*genetics ; Gene Frequency ; Genetic Predisposition to Disease/ethnology ; Haptoglobins/*genetics ; Humans ; Incidence ; Infant, Newborn ; Korea/epidemiology ; Phenotype ; *Polymorphism, Genetic ; Pregnancy

OBJECTIVETo investigate the knowledge and willingness of breast cancers patients from Shanghai for genetic counseling and gene testing.

METHODSA total of 428 patients filled out the questionnaire and the data was statistically analyzed.

RESULTSMost of the patients were unaware of genetic counseling and gene testing. But after a brief introduction, a majority of them were willing to accept genetic counseling and recommend their family members to participate. The willingness was education- and age-related. When told that gene testing may benefit themselves, 92.1% of the patients were willing to be tested. However, when told that gene testing may only benefit their family, only 33.9% of the patients were willing to join the testing. The acceptance was also age-, education- and family income-related. The difference was statistically significant. Moreover, the willingness ratio to participate the gene testing was lower than expected. Overall, 74.1% of the patients were willing to accept cheaper preliminary gene screening, whilst only 19.2% were willing to accept genetic testing of higher price. Despite of being told that testing results will be maintained as confidential, still 43.2% worried about adverse effects. Such patients tended to younger, from low-income families, with a family history of associated cancers, or personal history of other cancers. The difference was statistically significant.

CONCLUSIONThe majorities of patients do not know but are willing to accept genetic counseling and gene testing and recommend their family to participate. Lack of genetic knowledge, cost for the testing and concerns about discrimination are the obstacles for patients to participate in genetic counseling and gene testing. To spread the knowledge about breast cancer and establish a follow-up screening system for high-risk population may improve the tertiary prevention for breast cancer.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; statistics & numerical data ; BRCA1 Protein ; genetics ; BRCA2 Protein ; genetics ; Breast Neoplasms ; diagnosis ; ethnology ; genetics ; Chi-Square Distribution ; China ; Educational Status ; Female ; Genetic Counseling ; Genetic Predisposition to Disease ; genetics ; Genetic Testing ; Health Knowledge, Attitudes, Practice ; Humans ; Middle Aged ; Social Class