OBJECTIVETo assess the value of 15 short tandem repeat (STR) loci selected by an AmpFLSTR Identifilersystem for personal identification and paternity testing among ethnic Hans from Xiamen, Fujian.

METHODSFor 400 unrelated individuals, allelic frequencies for the 15 STR loci from the AmpFLSTR Identifilerkit were determined. Population genetics parameters for forensic usage were calculated.

RESULTSNo deviation of the observed allele frequency from Hardy-Weinberg equilibrium expectations was found by Chi-square test (P>0.05). All of the 15 loci were highly polymorphic. Observed heterozygosity has varied between 0.580 and 0.868. Matching probability was between 0.036 and 0.148. Power of discrimination was between 0.798 and 0.967. Polymorphic information content was between 0.560 and 0.850. And power of exclusion was between 0.268 and 0.730.

CONCLUSIONAll of the 15 loci selected by the AmpFLSTR Identifilersystem are highly polymorphic among ethnic Hans from Xiamen. By determining the alleles and allelic frequencies, data for genetic polymorphisms usable for paternity testing and personal identification for local population were obtained.

Alleles ; Asian Continental Ancestry Group ; genetics ; Chi-Square Distribution ; China ; Forensic Genetics ; methods ; Gene Frequency ; Genetics, Population ; methods ; Genotype ; Humans ; Linkage Disequilibrium ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic

BACKGROUND/AIMS: Gout is a common inf lammatory arthritis triggered by the crystallization of uric acid in the joints. Serum uric acid levels are highly heritable, suggesting a strong genetic component. Independent studies to confirm the genetic associations with gout in various ethnic populations are warranted. We investigated the association of polymorphisms in the ABCG2 and SLC2A9 genes with gout in Korean patients and healthy individuals. METHODS: We consecutively enrolled 109 patients with gout and 102 healthy controls. The diagnosis of gout was based on the preliminary criteria of the America College of Rheumatology. Genomic DNA was extracted from whole blood samples. We identified single nucleotide polymorphism (SNP) changes in the ABCG2 and SLC2A9 genes using a direct sequencing technique. rs2231142 in ABCG2 and rs6449213 and rs16890979 in SLC2A9 and nearby regions were amplified by polymerase chain reaction. RESULTS: Patients with gout had significantly higher A/A genotype (29.3% vs. 4.9%, respectively) and A allele (52.8% vs. 26.5%, respectively) frequencies of rs2231142 in ABCG2 than did controls (chi2 = 29.42, p < 0.001; odds ratio, 3.32; 95% confidence interval, 2.11 to 5.20). We found novel polymorphisms (c.881A>G and c.1002+78G>A) in the SLC2A9 gene. The univariate logistic regression analysis revealed that the c.881A>G and c.1002+78G>A SNPs were significantly higher in patients than in controls. CONCLUSIONS: We demonstrated a significant association between rs2231142 in the ABCG2 gene and gout and identified novel SNPs, c.881A>G and c.1002+78G>A, in the SLC2A9 gene that may be associated with gout in a Korean population.
ATP-Binding Cassette Transporters/*genetics ; Arthritis, Gouty/blood/diagnosis/ethnology/*genetics ; Asian Continental Ancestry Group/genetics ; Biomarkers/blood ; Case-Control Studies ; Chi-Square Distribution ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Glucose Transport Proteins, Facilitative/*genetics ; Haplotypes ; Humans ; Logistic Models ; Neoplasm Proteins/*genetics ; Odds Ratio ; Phenotype ; *Polymorphism, Single Nucleotide ; Republic of Korea ; Risk Factors ; Uric Acid/blood

OBJECTIVETo investigate the similarity and difference in blood group serology and molecular biology of A2 and A2B phenotypes between healthy blood donors and patients.

METHODSThe A and AB phenotypes were screened with anti-A1. Exons 1 to 7 and intron 6 of the ABO gene were analyzed with polymerase chain reaction-sequence-based typing (PCR-SBT) method. The blood type was determined by referring to the Blood Group Antigen Gene Mutation Database (BGMUT).

RESULTSAmong 7111 tested individuals, 75 were assigned as A2 or A2B phenotypes. However, only 28 individuals still belonged to the A2-related allele group based on genetic analysis. Among these, A205/B101 was the most common genotype. Among those non-A2-related alleles, A102/B101 was the most common genotype. Based on serologic testing, there was an imbalance between the A2 and A2B subgroups. In both donor group and patient group, the proportion of A2B was significantly higher than that of the A2. There were statistical differences between different groups (χ² = 64.613, 33.137, 34.963, P< 0.01). At the gene level, the imbalance still existed in both the overall population and the donor group, though there was a statistical difference between the two (χ² = 17.678, 14.157, P< 0.01). The same imbalance did not exist in the patient group (with continuous correction, χ² = 2.351, P= 0.125).

CONCLUSIONThe concordance rate for blood type determined by serology and genetic analysis has been low and deserves attention. For A2 and A2B phenotypes by serological screening, A102/B101 was the most common gene among non-A2-related alleles. Further study is needed to clarify this phenomenon.

ABO Blood-Group System ; blood ; genetics ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Blood Donors ; Chi-Square Distribution ; China ; Exons ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Introns ; genetics ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction

OBJECTIVETo analyze the distribution of matrix metalloproteinase-3 (MMP-3) genotype and its association with the blood pressure profiles in Guangzhou rural population.

METHODSThis study was conducted among 680 rural residents aged 40-70 years (including 314 men and 366 women) from 3 villages in an rural area of Guangzhou. The blood pressures of the subjects were measured and blood samples were collected for genotype analysis using polymerase chain reaction and direct sequencing of the MMP-3 gene promoter region to detect the 5 adenines (5A)/6 adenines (6A) polymorphisms.

RESULTSThe frequencies of MMP-3 genotypes 6A/6A, 5A/5A, and 5A/6A were 82.6%, 1.8% and 15.6% among these residents, respectively. The distribution of MMP-3 genotypes and allele frequencies showed no significant gender- or age-related variations. The men with different genotypes (6A/6A vs 5A/6A+5A/5A) did not show significant differences in blood pressure levels, whereas the women with 5A/6A+5A/5A genotypes had higher systolic and diastolic blood pressures than those with a 6A/6A genotype. The allele 5A was highly frequent in the hypertensive residents as compared with the normotensive residents.

CONCLUSIONSThe 6A homozygote is the predominant genotype of MMP-3 in Guangzhou rural population, which has a significantly lower proportion of 5A homozygote than the Western populations. The 5A allele is associated with a high risk of hypertension especially in women and may affect both systolic and diastolic blood pressures.

Adult ; Age Distribution ; Aged ; Alleles ; Blood Pressure ; China ; epidemiology ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertension ; epidemiology ; genetics ; Male ; Matrix Metalloproteinase 3 ; genetics ; Middle Aged ; Risk Factors ; Rural Population ; Sex Distribution

BACKGROUND/AIMS: Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. METHODS: Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutations were investigated. The frequency of MEFV gene mutations was compared among patients with osteoarthritis and a previous healthy group from our center. RESULTS: One hundred patients with primary osteoarthritis and 100 healthy controls were studied. The frequency of MEFV gene mutations was significantly lower in the osteoarthritis group (9% vs. 19%). M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%). In subgroup analyses, the mutation frequency of patients with hip osteoarthritis was not different from that of patients with knee osteoarthritis and controls (7.1%, 9.7%, and 19%, respectively). There were no differences among the three groups with respect to MEFV gene mutations other than E148Q (8.1% vs. 3.6%). E148Q was significantly lower in the osteoarthritis group than in the controls (16% vs. 1%), although the mutations did not differ between patients with knee osteoarthritis and controls. CONCLUSIONS: In a population with a high prevalence of MEFV gene mutations, we did not find an increased mutation rate in patients with primary osteoarthritis. Furthermore, we found that some mutations were significantly less frequent in patients with osteoarthritis. Although the number of patients studied was insufficient to claim that E148Q gene mutation protects against osteoarthritis, the potential of this gene merits further investigation.
Adolescent ; Adult ; Case-Control Studies ; Chi-Square Distribution ; *Cytoskeletal Proteins ; DNA Mutational Analysis ; Familial Mediterranean Fever/diagnosis/epidemiology/*genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; *Mutation ; Osteoarthritis, Hip/diagnosis/epidemiology/*genetics/surgery ; Osteoarthritis, Knee/diagnosis/epidemiology/*genetics/surgery ; Phenotype ; Risk Factors ; Turkey/epidemiology ; Young Adult

BACKGROUND/AIMS: Chronic inflammatory status is a possible risk factor for vascular access dysfunction in hemodialysis (HD) patients, but susceptibility differences appear among individuals. Interleukin (IL)-6 is a well-known inflammatory cytokine with various polymorphisms. We examined whether IL-6 polymorphisms are associated with vascular access dysfunction in HD patients. METHODS: A total of 80 HD patients (including 42 diabetic patients) were enrolled. Polymorphisms in the IL-6 gene promoter (-634 C/G and -174 G/C) were studied using restriction length polymorphism polymerase chain reaction analysis. Vascular access patency was compared between the patient groups with respect to IL-6 polymorphisms. An additional 89 healthy individuals were enrolled in the control group. Plasma IL-6 levels were de termined by enzyme-linked immunosorbent assay. RESULTS: The GG genotype and G allele at position -634 in the IL-6 promoter were more frequently observed in HD patients than in controls. Furthermore, the distribution of the -634 polymorphism differed according to vascular access patency in non-diabetic HD patients. However, the G allele was not a significant risk factor for early access failure. No significant association appeared between the IL-6 -634 C/G polymorphism and plasma IL-6 levels. The C allele of the IL-6 -174 G/C polymorphism was not detected in our study population. CONCLUSIONS: The IL-6 -634 G allele appears with greater frequently in patients with end-stage renal disease and may be associated with vascular access dysfunction in non-diabetic HD patients.
Adult ; Aged ; Arteriovenous Shunt, Surgical/*adverse effects ; Asian Continental Ancestry Group/*genetics ; Case-Control Studies ; Chi-Square Distribution ; Enzyme-Linked Immunosorbent Assay ; Female ; Gene Frequency ; Genotype ; Graft Occlusion, Vascular/blood/ethnology/*genetics/physiopathology ; Humans ; Interleukin-6/blood/*genetics ; Kidney Failure, Chronic/blood/ethnology/genetics/immunology/*therapy ; Logistic Models ; Male ; Middle Aged ; Odds Ratio ; Phenotype ; Polymerase Chain Reaction ; *Polymorphism, Genetic ; Promoter Regions, Genetic ; *Renal Dialysis ; Republic of Korea ; Time Factors ; Treatment Outcome ; Vascular Patency/*genetics

Macrophage infiltration has been observed in the renal biopsy specimens of diabetic nephropathy (DN), and hyperglycemic state stimulates the renal expression of RANTES (regulated upon activation, normal T-cell expressed and secreted) and MCP-1 (monocyte chemoattractant protein-1). Upregulation of RANTES and MCP-1 with infiltrating macrophages may play a crucial role in the development and progression of DN. Genetic polymorphisms of RANTES and its receptors were reported to be independent risk factors for DN. We genotyped single nucleotide polymorphism (SNPs) in the MCP-1 G-2518A, CCR2 G46295A, RANTES C-28G and G-403A in 177 diabetic end-stage renal disease (ESRD) patients and 184 patients without renal involvement (controls) in order to investigate the effects of these SNPs on DN in Korean patients with type 2 DM. There were no differences in the frequencies of SNPs and the distribution of haplotypes of RANTES promoter SNPs between two groups. In conclusion, there were no associations of MCP-1, CCR2 and RANTES promoter SNPs with diabetic ESRD in Korean population. Prospective studies with clearly-defined, homogenous cohorts are needed to confirm the effect of these genetic polymorphisms on DN.
Aged ; Asian Continental Ancestry Group/*genetics ; Chemokine CCL2/*genetics ; Chemokine CCL5/*genetics ; Chi-Square Distribution ; Diabetes Mellitus, Type 2/complications ; Female ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Kidney Failure, Chronic/ethnology/etiology/*genetics ; Korea ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide ; Promoter Regions, Genetic

OBJECTIVETo introduce the design and statistical methods of case-sibling control design and to analyze the published data.

METHODSData from an association study between the coronary heart disease and methylenetetrahydrofolate reductase gene C677T polymorphism was analyzed by the sib transmission/disequibrium test (s-TDT) and the sibship disequilibrium (SDT) methods.

RESULTSUsing s-TDT method, Z value was 0.27 with P > 0.05. The result of SDT method showed that chi-square was 0.31 with 1 df, P > 0.05. All results suggested that neither s-TDT nor SDT showed significant difference between the transmitted and untransmitted methylenetetrahydrofolate reductase gene C677T allele distributions.

CONCLUSIONCase-sibling control design might avoid population stratification by using siblings as controls thus might be used to test association and linkage between genes and disease.

Case-Control Studies ; Chi-Square Distribution ; Coronary Disease ; genetics ; Epidemiologic Methods ; Gene Frequency ; Genetic Association Studies ; Genetic Linkage ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Genetic ; Research Design ; Siblings

OBJECTIVE: To calculate the exclusion power of STR loci in motherless parentage testing and to discuss how to draw a conclusion if there are inconsistent loci. METHODS: Based on the law of inheritance and allele frequency, the powers of exclusion of STR loci in motherless parentage testing (PE(M)) were calculated. Based on the mean PE(M) and mutation rate of 13 CODIS loci. The probabilities of inconsistence under paternity and non-paternity were calculated respectively according to binomial theorem. RESULTS: The PE(M) of locus having co-dominate alleles could be calculated as: PE(M) = (i = 1)sigma (n) p i 2(1-p (i))2+ (i < j)sigma (n) 2p (i)p (j)(1-p (i)-p (j))2. According to the formula, the average PE(M) of 13 CODIS was 0.411. Based on the mean PE(M) and mutation rate, the likelihood ratio of true father to random man (paternity index) was got using binomial theorem. CONCLUSION The conclusion in motherless parentage testing could be drawn based on the likelihood ratio (paternity index) derived from mean PE(M) and mutation ratio.
Algorithms ; Alleles ; Binomial Distribution ; Forensic Genetics/methods* ; Gene Frequency ; Genetic Markers ; Humans ; Male ; Mutation ; Paternity ; Probability ; Tandem Repeat Sequences

OBJECTIVETo investigate the relationship between interleukin 10 (IL10) gene -627 polymorphisms and serum IL10 level and early-onset coronary heart disease (CHD).

METHODSThe genotype and allele frequency of IL10 gene -627 site was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). DNA samples were obtained from 163 patients with CHD and 112 controls. Serum IL10 level was detected by ELISA.

RESULTSNo significant difference was found in the distribution of IL10 genotype and allele frequency between the healthy controls and the patients with CHD; Chi-square values were 1.9324 and 1.5703 respectively, P > 0.05. Stratification analyses based on different sex still found no significant difference in the distribution of IL10 genotype and allele frequency between the healthy controls and the CHD patients; the Chi-square values in male groups were 1.2708 versus 0.8595, and in female groups were 0.8254 versus 0.7127, P > 0.05. Serum IL10 level showed significant differences among AA genotype, AC genotype and CC genotype, but no significant difference was noted between healthy controls and CHD patients.

CONCLUSIONThese results suggest that IL10 gene -627 polymorphisms are not associated with an increased risk of CHD, but it might assume a role in IL10 gene expression.

Adult ; Age of Onset ; Asian Continental Ancestry Group ; genetics ; Chi-Square Distribution ; China ; epidemiology ; Coronary Disease ; blood ; epidemiology ; genetics ; Enzyme-Linked Immunosorbent Assay ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Interleukin-10 ; blood ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length