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A pilot exome-wide association study of age-related cataract in Koreans

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The Journal of Biomedical Research 2016年第3期30卷 186-190页

作者： Sang-yong Eom Dong-Hyuk Yim Jung-Hyun kim Joo-Byung Chae yong-dae kim Heon kim Center for Farmer's Safety and Health Chungbuk National University Hospital Department of Preventive Medicine College of MedicineChungbuk National University Department of Optometry Daejeon Health Science College Department of Ophthalmology College of MedicineChungbuk National University

Age-related cataract （ARC） is the most common cause of visual impairment and blindness worldwide. A previous study reported that genetic factors could explain approximately 50% of the heritability of cataract. However, a genetic predisposition to ARC and the contributing factors have not yet been elucidated in the Korean population. In this study, we assessed the influence of genetic polymorphisms on the risk of ARC in Koreans, including 156 cataract cases and 138 healthy adults. We conducted an exome-wide association study using Illumina Human Exome-12v1.2 platform to screen 244,770 single nucleotide polymorphisms （SNPs）. No SNPs reached exome-wide significance level of association （P 〈 l x 10 6）. B3GNT4 rs7136356 showed the most significant association with ARC （P = 6.54x 10 5）. Two loci （MUC16 and P2RY2） among the top 20 ARC-associated SNPs were recognized as probably linked to cata- ractogenesis. Functions of these genes were potentially related to regulating dehydration or homeostasis of the eyes, and showed a potential association with dry eye disease. This finding suggests that mucin- and dry eye disease-related genes may play a significant role in cataractogenesis. Our study provides insight into the genetic predisposition of ARC in Koreans. Additional studies with larger sample sizes are required to confirm the results of this study.

关键词： age-related cataract exome-wide association study single nucleotide polymorphism genetic predispo-sition dry eye disease

Dietary vitamin D intake and vitamin D related genetic polymorphisms are not associated with gastric cancer in a hospital-based case-control study in Korea

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The Journal of Biomedical Research 2018年第4期32卷 257-263页

作者： Sang-yong Eom Dong-Hyuk Yim dae-Hoon kim Hyo-Yung Yun Young-Jin Song Sei-Jin Youn Taisun Hyun Joo-Seung Park Byung Sik kim yong-dae kim Heon kim Departments of Preventive Medicine and Medical Research Institute College of Medicine Departments of Preventive Medicine and Surgery College of Medicine Departments of Preventive Medicine and Internal Medicine College of Medicine Dartment of Food and Nutrition Chungbuk National UniversityCheongju 28644Korea Department of Surgery College of MedicineEulji UniversityDaejon 301746Korea Department of Surgery Asan Medical CenterCollege of MedicineUlsan UniversitySeoul 138736Korea

There have been few studies on the association between vitamin D levels and gastric cancer in Asian populations,but no studies have been performed on the interactions between vitamin D intake and polymorphisms in the vitamin D *** effects of vitamin D intake,vitamin D related genetic polymorphisms,and their association with the incidence of gastric cancer were investigated in a hospital case-control study,including 715 pairs of newly diagnosed gastric cancer patients and controls matched for age and *** between vitamin D intake and plasma vitamin D concentrations were also assessed in a subset of *** statistically significant difference was observed in the dietary intake of vitamin D between the patients and controls,nor were there any evident associations between vitamin D intake and risk of gastric cancer in multivariate *** D intake significantly correlated with the circulating 25-hydroxyvitamin D levels,but not with the active form of the vitamin,1,25-dihydroxyvitamin *** were no statistically significant interactions between vitamin D intake,and VDR or TXNIP *** study suggests that dietary vitamin D intake is not associated with gastric cancer risk,and the genetic polymorphisms of vitamin D-related genes do not modulate the effect of vitamin D with respect to gastric carcinogenesis.

关键词： gastric cancer vitamin D vitamin D receptor gene-environment interaction

Evaluation of the relationship between dietary factors,CagA-positive Helicobacter pylori infection,and RUNX3 promoter hypermethylation in gastric cancer tissue

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World Journal of Gastroenterology 2013年第11期19卷 1778-1787页

作者： Yan-Wei Zhang Sang-yong Eom Dong-Hyuk Yim Young-Jin Song Hyo-Yung Yun Joo-Seung Park Sei-Jin Youn Byung-Sik kim yong-dae kim Heon kim Department of Preventive Medicine and Medical Research Institute College of MedicineChungbuk National UniversityCheongju 361-763South Korea Department of Surgery College of MedicineChungbuk National UniversityCheongju 361-763South Korea Department of Surgery College of MedicineEulji UniversityDaejon 461-713South Korea Department of Internal Medicine College of MedicineChungbuk National UniversityCheongju 361-763South Korea Department of Surgery Asan Medical CenterCollege of MedicineUlsan UniversitySeoul 138-736South Korea

AIM:To evaluate the relationship among Helicobacter pylori(***) infection,CagA status,and dietary factors with RUNX3 promoter ***:Gastric cancer tissue samples were collected from 184 South Korean *** patients were interviewed following a semi-quantitative food frequency *** average frequencies of intake and portion sizes of 89 common food items were documented,and total intakes of calories,nutrients,vitamins,and minerals were calculated for each *** was extracted from gastric cancer tissue samples,and amplification of the HSP60 gene was performed to detect *** *** polymerase chain reaction(PCR) was used to detect the presence of the CagA ***3 gene expression was measured by reverse transcription-PCR,and RUNX3 methylation status was evaluated by methylation-specific *** odds ratios(ORs) and 95%CI associated with RUNX3 promoter hypermethylation status were estimated for each of the food groups,lifestyle factors,and the interaction between dietary and lifestyle factors with CagA status of *** ***:Overall,164 patients(89.1%) were positive for *** DNA,with the CagA gene detected in 59(36%) of these ***-positive *** all,106(57.6%) patients with gastric cancer demonstrated CpG island hypermethylation at the RUNX3 ***3 expression was undetectable in 52(43.7%) of the 119 gastric cancer tissues sampled.A high consumption of eggs may increase the risk of RUNX3 methylation in gastric cancer patients,having a mean OR of 2.15(range,1.14-4.08).A significantly increased OR of 4.28(range,1.19-15.49) was observed with a high consumption of nuts in patients with CagA-positive *** *** intakes of carbohydrate,vitamin B1,and vitamin E may decrease the risk of RUNX3 methylation in gastric cancer tissue,particularly in CagA-or ***-negative infection,with OR of 0.41(0.19-0.90),0.42(0.20-0.89),and 0.29(0.13-0.62),respectively.A high consumpt

关键词： Gastric cancer RUNX3 Helicobacter pylori CagA Dietary factors

Complete response of metastatic BRAF V600-mutant anaplastic thyroid cancer following adjuvant dabrafenib and trametinib treatment:A case report

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World Journal of Clinical Cases 2023年第27期11卷 6664-6669页

作者： Sang Jae Lee Si-Youn Song Min Kyoung kim Hyung Gyun Na Chang Hoon Bae yong-dae kim Yoon Seok Choi Department of Otorhinolaryngology-Head and Neck Surgery College of MedicineYeungnam UniversityDaegu 42415South Korea Division of Hematology-Oncology Department of Internal MedicineCollege of MedicineYeungnam UniversityDaegu 42415South Korea Regional Center for Respiratory Diseases Yeungnam University Medical CenterDaegu 42415South Korea

BACKGROUND Anaplastic thyroid cancer(ATC)is a rare but aggressive type of thyroid *** V600E-mutation,which is found in 10%-50%of ATCs,is associated with poor prognosis.A recent clinical trial reported a substantial clinical benefit of concomitant treatment of dabrafenib(BRAF inhibitor)and trametinib(MEK inhibitor)for treating BRAF V600E-mutant ***,reports on patients with ATC treated with this regimen following surgery are *** SUMMARY We report the case of a 63-year-old female patient diagnosed with BRAF V600Emutant *** three surgeries—total thyroidectomy,total laryngectomy,and neck dissection—she was diagnosed with lung metastasis during *** metastatic ATC was successfully treated with dabrafenib and *** patient achieved a complete response at the 32-mo *** Adjuvant chemotherapy with dabrafenib plus trametinib is efficacious for treatment and prevention of recurrent ATC with BRAF mutation following surgery.

关键词： Thyroid carcinoma Anaplastic BRAF Dabrafenib Trametinib Chemotherapy Adjuvant Case report

Risk of gastric cancer is associated with PRKAA1 gene polymorphisms in Koreans

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World Journal of Gastroenterology 2014年第26期20卷 8592-8598页

作者： yong-dae kim Dong-Hyuk Yim Sang-yong Eom Sun In Moon Hyo-Yung Yun Young-Jin Song Sei-Jin Youn Taisun Hyun Joo-Seung Park Byung Sik kim Jong-Young Lee Hee Kwan Won Heon kim Department of Preventive Medicine College of MedicineChungbuk National University Department of Surgery College of MedicineChungbuk National University Department of Internal Medicine College of MedicineChungbuk National University Department of Food and Nutrition Chungbuk National University Department of Surgery College of MedicineEulji University Department of Surgery Asan Medical CenterCollege of MedicineUlsan University Center for Genome Science National Institute of Health Department of Internal Medicine Division of Endocrinology and MetabolismSchool of MedicineKonyang University

AIM: To evaluate the association between genetic polymorphisms of the gene encoding AMP-activated protein kinase (PRKAA1) and the risk of gastric cancer.

关键词： AMP-activated protein kinase Gastric cancer PRKAA1 Single nucleotide polymorphism Case-control study

ITGA1 polymorphisms and haplotypes are associated with gastric cancer risk in a Korean population

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World Journal of Gastroenterology 2013年第35期19卷 5870-5876页

作者： Dong-Hyuk Yim Yan-Wei Zhang Sang-yong Eom Sun In Moon Hyo-Yung Yun Young-Jin Song Sei-Jin Youn Taisun Hyun Joo-Seung Park Byung Sik kim Jong-Young Lee yong-dae kim Heon kim Department of Preventive Medicine and Medical Research Institute College of Medicine Chungbuk National University Center for Disease Control and Prevention Department of Surgery College of Medicine Chungbuk National University Department of Internal Medicine College of MedicineChungbuk National University Department of Food and Nutrition Chungbuk National University Department of Surgery College of MedicineEulji University Department of Surgery Asan Medical Center College of Medicine Ulsan University Center for Genome Science National Institute of Health

AIM:To evaluate the association between the geneticpolymorphisms and haplotypes of the ITGA1 gene and the risk of gastric ***:The study subjects were 477 age-and sex-matched case-control *** was performed for 15 single nucleotide polymorphisms(SNPs)in *** associations between gastric cancer and these SNPs and haplotypes were analyzed with multivariate conditional logistic regression *** testing corrections were carried out following methodology for controlling the false discovery ***-based association tests were performed using the versatile gene-based association study(VEGAS)***:In the codominant model,the ORs for SNPs rs2432143(1.517;95%CI:1.144-2.011)and rs2447867(1.258;95%CI:1.051-1.505)were statistically *** the dominant model,polymorphisms of rs1862610 and rs2447867 were found to be significant risk factors,with ORs of 1.337(95%CI:1.029-1.737)and 1.412(95%CI:1.061-1.881),*** the recessive model,only the rs2432143 polymorphism was significant(OR=1.559,95%CI:1.150-2.114).The C-C type of ITGA1 haplotype block 2 was a significant protective factor against gastric cancer in the both codominant model(OR=0.602,95%CI:0.212-0.709,P=0.021)and the dominant model(OR=0.653,95%CI:0.483-0.884).The ITGA1 gene showed a significant gene-based association with gastric cancer in the VEGAS *** the dominant model,the A-T type of ITGA1 haplotype block 2 was a significant risk factor(OR=1.341,95%CI:1.034-1.741).SNP rs2447867 might be related to the severity of gastric epithelial injury due to inflammation and,thus,to the risk of developing gastric ***:ITGA1 gene SNPs rs1862610,rs2432143,and rs2447867 and the ITGA1 haplotype block that includes SNPs rs1862610 and rs2432143 were significantly associated with gastric cancer.

关键词： Integrin ITGA1 Gastric cancer Polymorphism Haplotype

Analysis of microsatellite instability in stool DNA of patients with colorectal cancer using denaturing high performance liquid chromatography

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World Journal of Gastroenterology 2006年第41期12卷 6689-6692页

作者： Seok-Byung Lim Seung-yong Jeong Il-Jin kim dae yong kim Kyung Hae Jung Hee Jin Chang Hyo Seong Choi dae Kyung Sohn Hio Chung Kang yong Shin Sang-Geun Jang Jae-Hyun Park Jae-Gahb Park Research Institute and Hospital National Cancer CenterGoyangKorea Cancer Research Institute and Cancer Research Center Seoul National UniversitySeoulKorea

AIM： To evaluate the usefulness of denaturing high performance liquid chromatography （DHPLC） for analyzing microsatellite instability （MSI） status in stool DNA of patients with colorectal cancer. METHODS： A total of 80 cancer tissues from patients with primary sporadic colorectal tumor （proximal cancer： 27, distal cancer： 53） and matched stool （which were employed for comparison with the tissues） were analyzed for MSI status in BAT 26. DNA samples extracted from stool were evaluated by nested polymerase chain reaction （PCR） and DHPLC for MSI analysis. RESULTS： Six cases （7.5%） of MSI were identified in BAT 26 from 80 cancer tissues. All the stool DNA samples from patients whose cancer tissue showed IVlSI also displayed MSI in BAT 26. CONCLUSION： As MSI is one of the established fecal DNA markers to screen colorectal cancer, we propose to use DHPLC for the IVlSI analysis in fecal DNA.

关键词： Colorectal cancer Denaturing high performance liquid chromatography Fecal DNA MicrosateUite instability Stool

Trends in the eradication rates of Helicobacter pylori infection for eleven years

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World Journal of Gastroenterology 2012年第45期18卷 6628-6634页

作者： Jai Hoon Yoon Gwang Ho Baik Kyoung Min Sohn dae yong kim Yeon Soo kim Ki Tae Suk Jin Bong kim Dong Joon kim Jin Bae kim Woon Geon Shin Hak Yang kim Il Hyun Baik Hyun Joo Jang Department of Internal Medicine Hallym University College of MedicineChuncheon Sacred Heart Hospital153Gyo-dongChuncheonGangwon-do 200-704South Korea Department of Internal Medicine Hallym University College of MedicineKangnam Sacred Heart HospitalSeoul 150-950South Korea Department of Internal Medicine Hallym University College of MedicineKangdong Sacred Heart HospitalSeoul 134-814South Korea Department of Internal Medicine Hallym University College of MedicineHallym University Sacred Heart HospitalAnyang 431-070South Korea Department of Internal Medicine Hallym University College of MedicineHangang Sacred Heart HospitalSeoul 150-719South Korea

AIM:To evaluate the trends in the eradication rate of Helicobacter pylori(***) over the past 11 years in a single ***:This retrospective study covered the period from January 2000 to December *** evaluated 5746 patients diagnosed with gastric ulcers(GU),duodenal ulcers(DU),GU + DU,or nonpeptic ulcers associated with an *** *** treated them annually with the 2 wk standard first-line triple regimen,proton pump inhibitor(PPI) + amoxicilin + clarithromycin(PAC;PPI,clarithromycin 500 mg,and amoxicillin 1 g,all twice a day).The follow-up test was performed at least 4 wk after the completion of the 2 wk standard *** eradication using the PAC *** also assessed the eradication rates of 1 wk second-line therapy with a quadruple standard regimen(PPI b.i.d.,tripotassium dicitrate bismuthate 300 mg q.i.d.,metronidazole 500 mg t.i.d.,and tetracycline 500 mg q.i.d.) after the failure of the first-line *** analysis was performed with 95%CI for the differences in the annual eradication ***:A total of 5746 patients [2333 males(58.8%),1636 females(41.2%);mean age of males vs females 51.31 ± 13.1 years vs 52.76 ± 13.6 years,P < 0.05,total mean age 51.9 ± 13.3 years(mean ± SD)] were *** these patients,1674 patients were excluded:35 patients refused treatment;18 patients ceased *** eradication due to side effects;1211 patients had inappropriate indications for *** eradication,having undergone stomach cancer operation or chemotherapy;and 410 patients did not undergo the *** also excluded 103 patients who wanted to stop eradication treatment after only 1 wk due to poor compliance or the side effects mentioned ***,we evaluated the annual eradication success rates in a total of 3969 patients who received 2 wk first-line PAC *** endoscopic and clinical findings in patients who received the 2 wk PAC were as follows:gastric ulcer in 855(21.5%);duodenal ulcer in 878(22.1%);

关键词： Helicobacter pylori Eradication Protonpump inhibitor Therapy Clarithromycin

Comprehensive molecular characterization to predict immunotherapy response in advanced biliary tract cancer:a phase II trial of pembrolizumab

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Oncology Research 2025年第1期33卷 57-65页

作者： RYUL kim JOO KYUNG PARK MINSUK KWON MINAE AN JUNG yong HONG JOON OH PARK SUNG HEE LIM SEUNG TAE kim Division of Hematology-Oncology Department of MedicineSamsung Medical CenterSungkyunkwan University School of MedicineSeoulKorea Division of Gastroenterology Department of MedicineSamsung Medical CenterSungkyunkwan University School of MedicineSeoulKorea Department of Hematology-Oncology Ajou University School of MedicineSuwon-siGyeonggi-doKorea Samsung Advanced Institute of Health Science and Technology Sungkyunkwan University School of MedicineSeoulKorea

Background:Immune checkpoint inhibitors(ICIs)are effective in a subset of patients with metastatic solid ***,the patients who would benefit most from ICIs in biliary tract cancer(BTC)are still *** and methods:We molecularly characterized tissues and blood from 32 patients with metastatic BTC treated with the ICI pembrolizumab as second-line ***:All patients had microsatellite stable(MSS)type *** of the 32 patients achieved partial response(PR),with an objective response rate(ORR)of 9.4%(95%confidence interval[CI],2.0–25.2)and nine showed stable disease(SD),exhibiting a disease control rate(DCR)of 37.5%(95%CI,21.1–56.3).For the 31 patients who had access to PD-1 ligand 1(PD-L1)combined positive score(CPS)testing(cut-off value≥1%),the ORR was not different between those who had PD-L1-positive(PD-L1+;1/11,9.1%)and PDL1-(2/20,10.0%)tumors(p=1.000).The tumor mutational burden(TMB)of PD-L1+BTC was comparable to that of PD-L1-BTC(p=0.630).TMB and any exonic somatic mutations were also not predictive of pembrolizumab *** analysis of blood and tumor samples demonstrated a relatively high natural killer(NK)cell proportion in the peripheral blood before pembrolizumab treatment in patients who achieved tumor ***,the tumors of these patients presented high enrichment scores for NK cells,antitumor cytokines,and Th1 signatures,and a low enrichment score for cancer-associated ***:This study shows the molecular characteristics associated with the efficacy of pembrolizumab in BTC of the MSS type.

关键词： Pembrolizumab Whole-exome sequencing Whole-transcriptome sequencing Biliary tract cancer