• Childhood Kidney Diseases
• /
• v.8 no.1
• /
• pp.10-17
• /
• 2004

Purpose : $Henoch-Sch\"{o}nlein$ purpura(HSP) nephritis has a variable range of prevalence from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the angioten-sinogen(AGT) M235T polymorphism with the clinical manifestations, particularly proteinuria in children with HSP with or without nephritis. Methods : The AGT M235T polymorphism was determined in children with HSP nephritis (n=33) or HSP without nephritis(n=28) who had been diagnosed at Busan Paik hospital from January 1996 to June 2001. The M235T polymorphism of the AGT gene was determined by PCR amplification of the genomic DNA. Results : The M235T polymorphism of AGT gene frequency was MM 75%, MT : 25%, TT : 0% in HSP and MM : 64%, MT : 36%, TT : 0% in HSP nephritis, there was no significant differences in the genotype and allele frequencies between the two groups. No significant differences in clinical manifestations at onset and last follow-up were seen between the two genotypes. When statistical analysis was done according to the presence of the M allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>500 $mg/m^2/day$) at onset and at last follow-up were higher in the MT genotype than in those of in the MM genotype but these difference were not statistically significant. Conclusion : We suggest a lack of association between M235T polymorphism of the AGT gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on sufficient number of patients and long term follow up periods are necessary to confirm the role of M235T polymorphism of AGT gene in children with HSP nephritis.

• Animal cells and systems
• /
• v.1 no.1
• /
• pp.123-128
• /
• 1997

The characteristics of allelic polymorphisms of the two (CA)n microsatellite (p599 and ㅅ599) markers spanning the long arm of chromosome 5 were studied in 52 DNA samples from unrelated inhabitants of Seoul (Korea) by using the polymerase chain reaction (PCR) to investigate differences in allele frequencies between Korean and Caucasian populations. The 6 alleles were observed for p599 (CA)n with a polymorphism informative content (PIC) value of 0.71 and 9 alleles for ㅅ599 (CA)n with a PIC value of 0.82. The observed heterozygote frequencies of the loci were estimated to 0.730 and 0.846, respectively. Several allele frequencies of two loci showed significant differences between Korean and Caucasian populations. Genotype data from the two loci were consistent with the Hardy-Weinberg equilibrium by x2 test. Linkage disequilibrium between p599 (CA)n and ㅅ599 (CA)n loci was observed in x2 test between the observed and expected frequency of allelic association. The probability of matching calculated at each locus was 0.104 for p599 (CA)n and 0.043 for ㅅ599 (CA)n, respectively. These results demonstrate the need to determine populationspecific allele frequency distributions for polymorphic markers when performing genetic linkage studies in racially defined several populations.

• Korean Journal of Clinical Laboratory Science
• /
• v.56 no.1
• /
• pp.66-72
• /
• 2024

Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.

• Asian Pacific Journal of Cancer Prevention
• /
• v.15 no.19
• /
• pp.8383-8390
• /
• 2014

Background: Although the predictive value of the excision repair cross-complementing group 1 (ERCC1) C118T polymorphism in clinical outcomes of patients with colorectal cancer (CRC) receiving oxaliplatin-based chemotherapy has been evaluated in numerous published studies, the conclusions are conflicting. Therefore, we performed the present meta-analysis to determine the precise role of the ERCC1 C118T polymorphism in this clinical situation and help optimize individual chemotherapy. Materials and Methods: A multiple search strategy was used to identify eligible studies. Pooled odds ratios (ORs) and their 95% confidence intervals (CIs) were used to estimate objective response and oxaliplatin-induced toxicity, with hazard ratios (HRs) with 95%CIs for progression-free survival (PFS) and overall survival (OS). Results: A total of 22 studies including 2,846 CRC patients were eligible in the analysis. Overall, no significant correlation was found between the ERCC1 C118T polymorphism and objective response to oxaliplatin-based chemotherapy, in all patients or in the Asian and Caucasian subgroups. However, the pooled analysis showed that the PFS and OS were significantly shorter in patients who carried T/T or T/C genotypes of ERCC1 C118T as compared to the C/C genotype. On stratified analysis by ethnicity, the ERCC1 118T allele was associated with a favorable prognosis in Caucasians (PFS, HR=0.58, 95%CI: 0.24-1.44; OS, HR=0.38, 95%CI: 0.22-0.64) but an unfavorable prognosis in Asians (PFS, HR=2.49, 95%CI: 1.87-3.33; OS, HR=2.63, 95%CI: 1.87-3.69) based on a dominant model. In addition, we failed to find a statistically significant impact of ERCC1 C118T polymorphism on oxaliplatin-induced toxicity. Conclusions: The ERCC1 C118T polymorphism may have prognostic value in patients with CRC undergoing oxaliplatin-based chemotherapy.

• KOREAN JOURNAL OF CROP SCIENCE
• /
• v.49 no.3
• /
• pp.251-255
• /
• 2004

The epidemics of rice blast which occurred in south parts of Korea during the period from 1999 to 2001 and damaged several high quality rice cultivars developed using "Milyang 95" and/or "Milyang 96" as a parent. Genetic diversity of 23 rice cultivars including "Milyang 95" and it's relatives was assessed using 54 simple sequence repeats (SSR) markers reported to be linked to major blast resistance genes. Fifty-four SSR markers representing fifty-seven loci in the rice genome detected polymorphism among the 23 cultivars and revealed a total of 170 alleles with an average of 3.0 alleles per primer, The number of amplified bands ranged from 1 to 7. Several SSR markers including RM249, RM206 and OSR20 were informative for assessing the genetic diversity of relatively closed japonica rice cultivars. The 23 cultivars were classified into four groups by cluster analysis based on Nei's genetic distances, and the cultivars developed from same parents showed a tendency to cluster together that is consistant with genealogical information. High quality rice cultivars, Daesanbyeo, Donganbyeo, and Milyang 95 belonged to the same cluster, At the loci, RM254 and OSR32, all of the cultivars derived from the crosses using "Milyang 95" shared same alleles, suggesting that these japonica cultivars might carry alleles that are identical by descent. Evaluation of 23 rice cultivars against blast needs to be confirmed regarding the relationship between genotype and blast resistance.p between genotype and blast resistance.

• Journal of Acupuncture Research
• /
• v.21 no.2
• /
• pp.21-29
• /
• 2004

목적 : 본 연구는 Interleukin 4 Receptor (IL-4R) 유전자 다형성이 중풍의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 입원한 중풍환자 56명과 종합건진센터에 내원한 중풍 기왕력이 없는 건강인 83명을 대상으로 하였다. 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequencing 과정을 통하여 IL4R의 유전형이 자동으로 판정되었다. 결과 : A/A, A/G, G/G의 세가지 유전자형이 검출되었으며 중풍군과 대조군 사이에 유의성 있는 차이가 발견되었다(p=0.005). 그러나 개별 allele 빈도에 있어서는 중풍군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.995). 결론 : 이상의 결과를 통하여 IL4R 유전자 다형성은 중풍의 발병과는 관련성이 있는 것으로 사려되지만 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와의 연관성에 대한 심도있는 연구가 필요하다고 하겠다.

• The Korean Journal of Malacology
• /
• v.2 no.1
• /
• pp.30-34
• /
• 1986

Genetic variations of Semisulcospjra gottschei in Korea were investigated by means of starch gel-electrophoresis. The results are as follows; 1) Eight loci of ${\alpha}$-Gpd, Mdh-2, Pept-1, Pgm-2, Gp-1, Gp-2, Gp-3 and Gp-4 were monomorphic, and 8 loci of Mpi, Mdh-1, Pgi, Got, Pept-2, Pept-3, Pgm-1 and Sdh showed genetic variations. 2) Means of allele per locus ($\bar{A}$) and polymorphism (P) were revealed 0.64 and 0.44, respectively. The value of heterozygosity ($H_G$) showed a little more than heterozygosity $H_D$. ($H_D$=0.09, $H_G$=0.13) 3) Genetic variation appears to be due to loci of Got, Pept, Pgi, and Sdh, all of which of the $H_D$ values are high.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.11
• /
• pp.6519-6522
• /
• 2013

Background: Genetic polymorphisms of TP63 have been suggested to influence susceptibility to lung adenocarcinoma development in East Asian populations. This study aimed to investigate the relationship between common polymorphisms in the TP63 gene and the risk of lung adenocarcinoma, as well as interactions of the polymorphisms with environmental risk factors in Chinese non-smoking females. Methods: A case-control study of 260 cases and 318 controls was conducted. Data concerning demographic and risk factors were obtained for each subject. The genetic polymorphisms were determined by Taqman real-time PCR and statistical analyses were performed using SPSS software. Results: For 10937405, carriers of the CT genotype or at least one T allele (CT/TT) had lower risks of lung adenocarcinoma compared with the homozygous wild CC genotype in Chinese nonsmoking females (adjusted ORs were 0.68 and 0.69, 95%CIs were 0.48-0.97 and 0.50-0.97, P values were 0.033 and 0.030, respectively). Allele comparison showed that the T allele of rs10937405 was associated with a decreased risk of lung adenocarcinoma with an OR of 0.78 (95%CI=0.60-1.01, P=0.059). Our results showed that exposure to cooking oil fumes was associated with increased risk of lung adenocarcinoma in Chinese nonsmoking females (adjusted OR=1.58, 95%CI=1.11-2.25, P=0.011). However, we did not observe a significant interaction of cooking oil fumes and TP63 polymorphisms. Conclusion: TP63 polymorphism might be a genetic susceptibility factor for lung adenocarcinoma in Chinese non-smoking females, but no significant interaction was found with cooking oil fume exposure.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.5
• /
• pp.1873-1880
• /
• 2015

Background: A recent genome-wide association study (GWAS) on patients with chronic hepatitis C (CHC) treated with peginterferon and ribavirin (pegIFN-${\alpha}$/RBV) identified a single nucleotide polymorphism (SNP) on chromosome 19 (rs12979860) which was strongly associated with a sustained virological response (SVR). The aim of this study was twofold: to study the relationship between IL28B rs12979860 and sustained virological response (SVR) to pegIFN-${\alpha}$/RVB therapy among CHC patients and to detect the rs12979860 polymorphism by high resolution melting curve (HRM) assay as a simple, fast, sensitive, and inexpensive method. Materials and Methods: The study examined outcomes in 100 patients with chronic hepatitis C in 2 provinces of Iran from December 2011 to June 2013. Two methods were applied to detect IL28B polymorphisms: PCR-sequencing as a gold standard method and HRM as a simple, fast, sensitive, and inexpensive method. Results: The frequencies of IL28B rs12979860 CC, CT, and TT alleles in chronic hepatitis C genotype 1a patients were 10% (10/100), 35% (35/100), and 6% (6/100) and in genotype 3a were 13% (13/100), 31% (31/100), and 5% (5/100), respectively. In genotype 3a infected patients, rs12979860 (CC and CT alleles) and in genotype 1a infected patients (CC allele) were significantly associated with a sustained virological response (SVR). The SVR rates for CC, CT and TT (IL28B rs12979860) were 18%, 34% and 4%, respectively. Multiple logistic regression analysis identified two independent factors that were significantly associated with SVR: IL-28B genotype (rs 12979860 CC vs TT and CT; odds ratio [ORs], 7.86 and 4.084, respectively), and HCV subtype 1a (OR, 7.46). In the present study, an association between SVR rates and IL28B polymorphisms was observed. Conclusions: The HRM assay described herein is rapid, inexpensive, sensitive and accurate for detecting rs12979860 alleles in CHC patients. This method can be readily adopted by any molecular diagnostic laboratory with HRM capability and will be clinically beneficial in predicting treatment response in HCV genotype 1 and 3 infected patients. In addition, it was demonstrated that CC and CT alleles in HCV-3a and the CC allele in HCV-1a were significantly associated with response to pegIFN-${\alpha}$/RBV treatment. The present results may help identify subjects for whom the therapy might be successful.

• Clinical and Experimental Pediatrics
• /
• v.45 no.7
• /
• pp.884-890
• /
• 2002

Purpose : Henoch-Schonlein purpura(HSP) nephritis has been reported to vary from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in HSP. Methods : ACE gene polymorphism was determined in children with HSP nephritis(n=33) and HSP(n=28) who were diagnosed in Busan Paik hospital from January 1996 to June 2001. The I/D polymorphism of ACE gene was determined by PCR amplication of genomic DNA. Results : The ACE I/D genotype frequency was DD : 25%, ID : 50%, II : 25% in HSP and DD : 24 %, ID : 46%, II : 30% in HSP nephritis, there was no significant difference in the genotype and allele frequencies between two groups. When statistical analysis was done according to the presence of D allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>$500mg/m^2/day$) at onset and last follow-up were higher in DD/ID genotype than in those in II genotype, but these differences were not statistically significant. Conclusion : We suggest a lack of association between I/D polymorphism of ACE gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on a sufficient number of patients and long term follow up periods are necessary to confirm the role of I/D polymorphism of ACE gene in children with HSP nephritis.