Programmed Cell Death-Ligand 1 (PD-L1) gene Single Nucleotide Polymorphism in Graves' Disease and Hashimoto's Thyroiditis in Korean Patients.

Background: Programmed cell death-ligand 1 (PD-L1) has an important role in regulating immune reactions by binding to programmed death 1 (PD-1) on immune cells, which could prevent the exacerbation of autoimmune thyroid disease (AITD). The aim of this study was to evaluate the association of PD-L1 polymorphism with AITD, including Graves' disease (GD) and Hashimoto's thyroiditis (HT).

Methods: A total of 189 GD patients, 234 HT patients, and 846 healthy age- and sex-matched controls were enrolled in this study.

Changes in pneumatization of the maxillary air sinuses in Korean adults following biomimetic oral appliance therapy.

Objective: For the treatment of obstructive sleep apnea in adults, mandibular advancement devices (MADs) are often used. Since adults with a prognathic mandibular phenotype are at risk of developing an unfavorable facial profile, midfacial development using biomimetic oral appliance therapy might provide a suitable alternative. However, the effect of this procedure on the maxillary air sinuses is unknown; therefore, changes in sinus pneumatization were investigated in this study.

Tuberculosis infection and lung adenocarcinoma: Mendelian randomization and pathway analysis of genome-wide association study data from never-smoking Asian women.

We investigated whether genetic susceptibility to tuberculosis (TB) influences lung adenocarcinoma development among never-smokers using TB genome-wide association study (GWAS) results within the Female Lung Cancer Consortium in Asia. Pathway analysis with the adaptive rank truncated product method was used to assess the association between a TB-related gene-set and lung adenocarcinoma using GWAS data from 5512 lung adenocarcinoma cases and 6277 controls. The gene-set consisted of 31 genes containing known/suggestive associations with genetic variants from previous TB-GWAS.

Novel Germline Mutations of and in Korean Familial Breast Cancer Patients.

Breast cancer is the second most common cancer in Korean women. Germline mutations in the and genes cause hereditary breast cancer and are detected in 15-20% of hereditary breast cancer. We investigated the and mutations in 114 familial breast cancer patients using next-generation sequencing.

Association of Plasma Pentraxin-3 Level with Lipid Levels and Cardiovascular Risk Factors in People with No History of Lipid-Lowering Medication: the Dong-gu Study.

Aim: To elucidate the role of pentraxin-3 (PTX3) in atherosclerosis, we evaluated lipid and cardiovascular risk profiles according to the plasma PTX3 levels in subjects from the general population.

Methods: A sub-cohort of 2,000 subjects was randomly sampled from a Korean community-based cohort study. After excluding those with a medication history for dyslipidemia, 1,747 subjects (902 men and 845 women) were included in the final analyses.

Association between Plasma Pentraxin 3 Levels and Bone Mineral Density in Elderly Koreans: the Dong-gu Study.

Background: We investigated the association between pentraxin 3 (PTX3), a novel inflammatory marker, and bone mineral density (BMD) in the general Korean population.

Methods: We selected a sub-cohort of 1,440 subjects (757 men and 683 women) from participants in the community-based Dong-gu Study. The mean age was 66.

Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subject with hypercholesterolaemia from two population-based cohorts in South Korea. A total of 283 subjects with total cholesterol levels of 290 mg/dL (7.5 mmol/L) or higher were selected from the Namwon and Dong-gu Studies.

Role of depth of response and MTHFR genotype as predictors of fluorouracil rechallenge therapy for refractory metastatic colorectal cancer.

There is limited data on the clinical and biological parameters that enable the prediction of the benefits derived from additional chemotherapy after disease progression compared with standard chemotherapy in patients with metastatic colorectal cancer (mCRC). The present study evaluated the role of tumor response as a clinical parameter and single nucleotide polymorphisms (SNPs) as a biomarker to predict the benefit of additional 5-fluorouracil (5-FU) rechallenge chemotherapy in patients with refractory mCRC. Tumor responses were retrospectively reviewed based on the Response Evaluation Criteria in Solid Tumors, early tumor shrinkage (ETS) and depth of response (DoR) following first-line chemotherapy in patients with stage IV CRC.

Relationship between plasma pentraxin 3 level and risk of chronic kidney disease in the Korean elderly: the Dong-gu study.

Unlabelled: Purpose This study investigated the cross-sectional association between chronic kidney disease (CKD) and plasma pentraxin 3 (PTX3) levels in a Korean population, in a community-based cohort study.

Methods: A total of 1816 (891 men, 925 women) subjects were randomly selected from the cohort of participants for the final analyses. Plasma PTX3 concentration was determined using enzyme-linked immunosorbent assays.

Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations.

To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P < 5 × 10-8), namely, rs7216064 (17q24.

Arg388 Is Correlated with Poor Survival in Resected Colon Cancer Promoting Epithelial to Mesenchymal Transition.

Purpose: Fibroblast growth factor receptor 4 () plays an important role in cancer progression during tumor proliferation, invasion, and metastasis. This study evaluated the prognostic role of polymorphism in patients with resected colon cancer, including the underlying mechanism.

Materials And Methods: polymorphism was characterized in patientswho received curative resection for stage III colon cancer.

Association between the TCF7L2 polymorphism and colorectal cancer does not differ by diabetes and obesity statuses.

This study evaluated the association between polymorphism in a newly identified locus, rs11196172, located in transcription factors 7-like 2 (TCF7L2) and colorectal cancer (CRC) risk according to diabetes and obesity statuses. A study enrolled 6138 CRC patients and 4367 community controls. The adjusted odds ratios (aORs) with age, sex, smoking, and body mass index of the A allele, compared with the G allele, was 1.

Effect of the allelic variants of ABCB1, CYP2D6 and HTR3B on response of ramosetron to prevent chemotherapy-induced nausea and vomiting in Korean cancer patients.

Aim: Despite appropriate use of antiemetics including 5-hydroxytryptamine type 3 (5-HT ) receptor antagonists, chemotherapy-induced nausea and vomiting (CINV) is still an unsolved problem in patients with anticancer drugs. We examined whether the variants of ABCB1, CYP2D6 and HTR3B affect efficacy of ramosetron, a selective 5-HT receptor antagonist in a dose escalation clinical trial.

Methods: We conducted a clinical trial on patients who underwent FOLFOX combination chemotherapy.

25-Hydroxyvitamin D and Parathyroid Hormone Levels Are Independently Associated with the Hemoglobin A1c Level of Korean Type 2 Diabetic Patients: The Dong-Gu Study.

In type 2 diabetic patients, the relationships between 25-hydroxyvitamin D and parathyroid hormone levels, and glycemic control, remain unclear. We evaluated associations between 25-hydroxyvitamin D, parathyroid hormone, and hemoglobin A1c levels after adjusting for other covariates, including log transformed 25-hydroxyvitamin D levels and log transformed parathyroid hormone levels, in Korean patients with type 2 diabetes. In total, 1,175 patients with type 2 diabetes were selected from 8,857 individuals who completed the baseline survey of the Dong-gu study, conducted in Korea from 2007 to 2010.

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events.

Association of APOE Genotype with Bone Mineral Density in Men and Women: The Dong-gu and Namwon Studies.

Many studies have investigated relationships between APOE genotype and bone mineral density (BMD). However, the results of these studies have been inconsistent. Few studies have been carried out in Asian populations.

Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women.

Genome-wide association studies (GWAS) of lung cancer in Asian never-smoking women have previously identified six susceptibility loci associated with lung cancer risk. To further discover new susceptibility loci, we imputed data from four GWAS of Asian non-smoking female lung cancer (6877 cases and 6277 controls) using the 1000 Genomes Project (Phase 1 Release 3) data as the reference and genotyped additional samples (5878 cases and 7046 controls) for possible replication. In our meta-analysis, three new loci achieved genome-wide significance, marked by single nucleotide polymorphism (SNP) rs7741164 at 6p21.

Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.

Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients.

APOE Polymorphism Is Associated with C-reactive Protein Levels but Not with White Blood Cell Count: Dong-gu Study and Namwon Study.

We evaluated the association of the APOE polymorphism with serum C-reactive protein levels and white blood cell count in two large population-based studies in Korean. The datasets included the Dong-gu study (n = 8,893) and the Namwon Study (n = 10,032). APOE genotypes were identified by polymerase chain reaction-restriction fragment length polymorphism.

The Prognostic Significance of FGFR4 Gly388 Polymorphism in Esophageal Squamous Cell Carcinoma after Concurrent Chemoradiotherapy.

Purpose: The purpose of this study is to investigate the role of fibroblast growth factor receptor 4 (FGFR4) polymorphism in esophageal cancer after chemoradiotherapy (CRT).

Materials And Methods: Peripheral blood samples from 244 patients treated with CRT for esophageal squamous cell carcinoma were assessed for the role of FGFR4 genotype on treatment response and survival.

Results: A total of 94 patients were homozygous for the Gly388 allele, and 110 were heterozygous and 40 homozygous for the Arg388 allele.

Association between ABO genotype and risk of hepatocellular carcinoma in Koreans.

Background: Associations between ABO blood groups and risk of several malignancies have been reported, although there are limited data regarding hepatocellular carcinoma (HCC). The aim of this study was to investigate any possible association between the ABO genotype, especially blood group A, and HCC risk in Koreans.

Materials And Methods: We conducted a case-control study of 1,538 patients with newly diagnosed HCC at Chonnam National University Hwasun Hospital and 1,305 randomly selected members of the general population.

Characterization of large structural genetic mosaicism in human autosomes.

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals.