PURPOSE: We aimed to evaluate the clinical characteristics of microsatellite instability in early gastric cancer.MATERIALS AND METHODS: The microsatellite instability status of resected early gastric tumors was evaluated using two mononucleotide repeat markers (BAT25 and BAT26) and three dinucleotide repeat markers (D5S346, D2S123, and D17S250). Tumors with instability in two or more markers were defined as microsatellite instability-high (MSI-H) and others were classified as microsatellite stable (MSS).RESULTS: Overall, 1,156 tumors were included in the analysis, with 85 (7.4%) classified as MSI-H compared with MSS tumors. For MSI-H tumors, there was a significant correlation with the female sex, older age, tumor location in the lower gastric body, intestinal histology, lymphovascular invasion (LVI), and submucosal invasion (P<0.05). There was also a trend toward an association with lymph node (LN) metastasis (P=0.056). In mucosal gastric cancer, there was no significant difference in MSI status in tumors with LN metastasis or tumors with LVI. In submucosal gastric cancer, LVI was more frequently observed in MSI-H than in MSS tumors (38.9% vs. 25.0%, P=0.027), but there was no difference in the presence of LN metastases. The prognosis of MSI-H tumors was similar to that of MSS tumors (log-rank test, P=0.797, the hazard ratio for MSI-H was adjusted by age, sex, pT stage, and the number of metastatic LNs, 0.932; 95% confidence interval, 0.423–2.054; P=0.861).CONCLUSIONS: MSI status was not useful in predicting prognosis in early gastric cancer. However, the frequent presence of LVI in early MSI-H gastric cancer may help guide the appropriate treatment for patients, such as endoscopic treatment or limited LN surgical dissection.
Dinucleotide Repeats ; Female ; Humans ; Lymph Nodes ; Microsatellite Instability ; Microsatellite Repeats ; Neoplasm Metastasis ; Prognosis ; Stomach Neoplasms

BACKGROUND: The heme oxygenase-1 gene (HMOX1) promoter polymorphisms modulate its transcription in response to oxidative stress. This study screened for HMOX1 polymorphisms and investigated the association between HMOX1 polymorphisms and coronary artery disease (CAD) in the Korean population. METHODS: The study population consisted of patients with CAD with obstructive lesions (n=110), CAD with minimal or no lesions (n=40), and controls (n=107). Thirty-nine patients with CAD with obstructive lesions underwent follow-up coronary angiography after six months for the presence of restenosis. The 5'-flanking region containing (GT)n repeats of the HMOX1 gene was analyzed by PCR. RESULTS: The numbers of (GT)n repeats in the HMOX1 promoter showed a bimodal distribution. The alleles were divided into two subclasses, S25 and L25, depending on whether there were less than or equal to and more than 25 (GT)n repeats, respectively. The allele and genotype frequencies among groups were statistically not different. More subjects in the S25-carrier group had the low risk levels of high sensitivity C-reactive protein (hsCRP) for the CAD than those in the non-S25 carrier group (P=0.034). Multivariate logistic regression analysis revealed that the genotypes of (GT)n repeats were not related to CAD status. The restenosis group in the coronary angiography follow-up did not show any significant difference in HMOX1 genotype frequency. CONCLUSIONS: The HMOX1 genotypes were not found to be associated with CAD, but the short allele carrier group contained more individuals with hsCRP values reflecting low risk of cardiovascular disease in the Korean population.
5' Untranslated Regions ; Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; C-Reactive Protein/analysis ; Coronary Angiography ; Coronary Artery Disease/*genetics/pathology ; Coronary Restenosis/complications/therapy ; Dinucleotide Repeats/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Heme Oxygenase-1/*genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Republic of Korea ; Risk Factors

Simple and effective methods are needed for the identification of Chinese medicinal material species and their variety. Lonicera japonica Thunb. is one of Chinese herbal medicines widely demanded. A total of 3 705 EST-SSRs of L. japonica and 2 818 EST-SSRs of L. japonica var. chinensis Thunb. were identified from EST database in our lab. In average, there was one EST-SSR per 4.05 kb in L. japonica ESTs and per 7.49 kb in L. japonica var. chinensis ESTs, separately. The identified SSRs in L. japonica were consisted of 51.98% dinucleotide and 34.61% trinucleotide repeats, while SSRs in L. japonica var. chinensis had 57.45% dinucleotide and 30.09% trinucleotide. The results reviewed that the classes AG/TC and GAG/TCT were predominant in the dinucleotide motifs and the trinucleotide motifs, respectively. Total 87 EST-SSRs were identified of significant difference between L. japonica and L. japonica var. chinensis. PCR products were obtained from 52 L. japonica samples in 13 out of 15 SSR markers tested. The polymorphism in L. japonica, L. japonica var. chinensis and other honeysuckles could be distinguished by three markers (jp.ssr4, jp.ssr64 and jp.ssr65) tested.
Dinucleotide Repeats ; Expressed Sequence Tags ; Flowers ; genetics ; Lonicera ; classification ; genetics ; Microsatellite Repeats ; Plants, Medicinal ; classification ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Trinucleotide Repeats

OBJECTIVETo investigate the association of polymorphisms of STAT6 gene and air pollutants of PM(10), NO(2), and SO(2), with asthma in Chinese children.

METHODS418 subjects aged 14 years and under were recruited in a case-control study. The association between STAT6 polymorphisms and childhood asthma were tested by allele frequency, genotype analysis, and MDR analysis. Exposure to outdoor air pollutants was estimated by a 5-day moving average level. Statistical analyses were performed with SAS 9.1 software.

RESULTSOnly 3 alleles of GT repeats at exon 1 of STAT6 were found in Chinese children. C258T and T710C were 2 new SNPs of STAT6 at 3'-UTR. Children who carried T allele of C258T were more common in asthma children than in control subjects (P<0.05). The MDR analysis showed that GT repeats, C258T and T710C of STAT6 polymorphisms interacted together in leading to susceptibility to childhood asthma among Chinese people. After confounding factors were controlled, such as SNP C258T, family history of asthma, frequency of influenza within a year, the 5-day average of SO(2) was tested to be a key risk factor of asthma in Chinese children (P<0.05).

CONCLUSIONChinese children differed in polymorphisms of STAT6 and in its relation with childhood asthma.

Adolescent ; Air Pollutants ; toxicity ; Asian Continental Ancestry Group ; genetics ; Asthma ; chemically induced ; epidemiology ; genetics ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Dinucleotide Repeats ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Polymorphism, Single Nucleotide ; STAT6 Transcription Factor ; genetics ; Sulfur Dioxide ; toxicity

Adult ; Aged ; Aged, 80 and over ; Alleles ; Carcinoma, Non-Small-Cell Lung ; genetics ; metabolism ; pathology ; Dinucleotide Repeats ; genetics ; Female ; Humans ; Introns ; genetics ; Lung Neoplasms ; genetics ; metabolism ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Receptor, Epidermal Growth Factor ; genetics ; metabolism

OBJECTIVE: To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron 13 and intron 22 microsatellite polymorphism for the carrier detection and prenatal diagnosis of hemophilia A in the Korean population. METHODS: Intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene were analyzed in 30 unrelated Korean mothers of patients with severe hemophilia A using fluorescent PCR. RESULTS: Analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene was feasible by the fluorescent-PCR method. The expected heterozygosity rates of intron 13 and intron 22 polymorphisms of the factor VIII gene were 67% and 34%, respectively. Combined analysis of intron 13 and intron 22 polymorphisms revealed heterozygous patterns in 16 (53%) of 30 mothers studied. Using linkage analysis with intron 13 and intron 22 polymorphisms, we have attempted three cases of carrier detection and one cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that flourescent-PCR analysis of the intron 13 and intron 22 microsatellite polymorphisms within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII ; Hemophilia A ; Humans ; Introns ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Prenatal Diagnosis

OBJECTIVE: To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron 13 and intron 22 microsatellite polymorphism for the carrier detection and prenatal diagnosis of hemophilia A in the Korean population. METHODS: Intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene were analyzed in 30 unrelated Korean mothers of patients with severe hemophilia A using fluorescent PCR. RESULTS: Analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene was feasible by the fluorescent-PCR method. The expected heterozygosity rates of intron 13 and intron 22 polymorphisms of the factor VIII gene were 67% and 34%, respectively. Combined analysis of intron 13 and intron 22 polymorphisms revealed heterozygous patterns in 16 (53%) of 30 mothers studied. Using linkage analysis with intron 13 and intron 22 polymorphisms, we have attempted three cases of carrier detection and one cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that flourescent-PCR analysis of the intron 13 and intron 22 microsatellite polymorphisms within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII ; Hemophilia A ; Humans ; Introns ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Prenatal Diagnosis

OBJECTIVETo investigate the relationship between the polymorphic (AT)n repeats in 3ountranslated region of exon 4 of CTLA4 gene [CTLA4(AT)n] and Graveso disease (GD) in Zhuang nationality population of Guangxi province.

METHODSThe studied groups comprised 48 patients with GD and 44 normal controls. Amplification of target DNA was carried out by polymerase chain reaction (PCR). The amplified products were run by 8% polyacrylamide gel electrophoresis, and then followed by 0.1% silver staining. Some of amplified products were sequenced directly.

RESULTSNineteen alleles of CTLA4 gene microsatellite polymorphism were found in Guangxi Zhuang nationality individuals. The 106 bp long allele was apparently increased in patients with GD of Zhuang nationality but not in healthy controls (P< 0.05).

CONCLUSIONCTLA4 gene microsatellite polymorphism is strongly associated with Graveso disease in Zhuang nationality population of Guangxi province. CTLA4(AT)n 106 bp may be the susceptible gene in GD patients of Zhuang nationality in Guangxi; 19 alleles of CTLA4 gene microsatellite polymorphism were found in Guangxi Zhuang nationality individuals.

Adult ; Antigens, CD ; genetics ; Base Sequence ; CTLA-4 Antigen ; China ; Dinucleotide Repeats ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Graves Disease ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Sequence Analysis, DNA

OBJECTIVE: This study was performed to evaluate the status of p16 tumor suppressor gene in 25 endometrial carcinomas (ECs) and to correlate the loss of heterozygosity (LOH) at p16 locus, the presence of inactivating mutations, the methylation status of the promotor, and the expression of p16 protein with clinicopathological parameters. METHODS: Methylation-specific PCR (MSP) distinguishes unmethylated from methylated alleles in a given gene on sequence changes produced after bisulfite treatment of DNA. Allelic losses were determined at two polymorphic dinucleotide repeat microsatellite markers of the p16 gene on chromosome 9p21 that included D9S974 and D9S1748 at CDKN2A. Mutations were analyzed by exons 1 and 2 of p16 PCR-SSCP. Immunohistochemical staining for p16 protein was performed. The associations between genetic alterations of the p16 and the clinicopathological parameters of ECs were evaluated by chi-squared or Fisher's extraction tests. RESULTS: The median age of the 25 cases was 52 years, ranging from 32 to 72. The median tumor size was 3.6 cm, ranging from 0.8 to 9.5 cm. Histologically, the ECs were 21 endometrioid, 2 adenosquamous, 1 secretory and 1 papillary serous types. Nine cases of p16 protein staining were negative or minimal positive in 25 ECs (36%). Allelic losses were found in 6 loci (66.7%) of 5 ECs without p16 protein expression (Fisher's extraction test, p=0.0029), In this study, only 2 of 25 ECs (8%) disclosed mutations. Non-endometrioid (secretory and adenosquamous) carcinomas showed more frequent mutation and methylation than endometrioid carcinomas (p=0.043) and high grades (G3, p=0.018) showed more frequent mutation and methylation than low grade ECs. CONCLUSION: This study suggests that methylation of p16 promoter region seems not to be common (only 9.5% in our present series) and not to be associated with loss of nuclear p16 protein expression. Loss of p16 protein indicates a higher frequency of LOH, which contributes to the development of high grade or aggressive ECs. The mechanism of p16 inactivation is not clear, so other genetic or nongenetic mechanisms for inactivation should be further studied.
Alleles ; Carcinoma, Endometrioid ; Dinucleotide Repeats ; DNA ; Endometrial Neoplasms* ; Exons ; Female ; Genes, p16 ; Genes, Tumor Suppressor ; Loss of Heterozygosity ; Methylation ; Microsatellite Repeats ; Polymerase Chain Reaction ; Promoter Regions, Genetic*

BACKGROUND: The fact that only 10-20% of chronic cigarette smokers develop chronic obstructive pulmonary disease (COPD) reflects the presence of genetic factors associated with the susceptibility to COPD. Recently, it was reported that the surfactant protein A increases the secretion of matrix metalloprotease 9, which degrades extracellular matrices of the lung, through a Toll-like receptor 2 (TLR2). In this context, possible role of TLR2 in the pathogenesis of COPD was postulated, and a functional dinucleotide repeat polymorphism in intron II of TLR2 was evaluated for any association with COPD. METHOD: Male patients with COPD and male smokers with a normal pulmonary function were enrolled in this study. The number of Guanine-Thymine repeats in intron II of the TLR2 gene were counted. Because the distributions of the repeats were trimodal, the alleles were classified into three subclasses, 12-16 repeats: short (S) alleles; 17-22 repeats: medium length (M) alleles; and 23-27 repeats: long (L) alleles. RESULT: 125 male patients with COPD and 144 age- and gender-matched blood donors with a normal lung function were enrolled. There were no differences in the distribution of each allele subclass (S, M and L) between the COPD and control group (p=0.75). The frequencies of the genotypes with and without each allele subclass in the COPD and control group were similar. CONCLUSION: A microsatellite polymorphism in intron II of TLR2 gene was not associated with the development of COPD in Koreans.
Alleles ; Blood Donors ; Dinucleotide Repeats ; Extracellular Matrix ; Genetic Predisposition to Disease ; Genotype ; Humans ; Introns ; Lung ; Male ; Microsatellite Repeats* ; Pulmonary Disease, Chronic Obstructive* ; Pulmonary Surfactant-Associated Protein A ; Tobacco Products ; Toll-Like Receptor 2* ; Toll-Like Receptors*