• Korean Journal of Radiology
• /
• v.24 no.11
• /
• pp.1131-1141
• /
• 2023

Objective: Cortical iron deposition has recently been shown to occur in Alzheimer's disease (AD). In this study, we aimed to evaluate how cortical gray matter iron, measured using quantitative susceptibility mapping (QSM), differs in the clinical cognitive impairment spectrum. Materials and Methods: This retrospective study evaluated 73 participants (mean age ± standard deviation, 66.7 ± 7.6 years; 52 females and 21 males) with normal cognition (NC), 158 patients with mild cognitive impairment (MCI), and 48 patients with AD dementia. The participants underwent brain magnetic resonance imaging using a three-dimensional multi-dynamic multi-echo sequence on a 3-T scanner. We employed a deep neural network (QSMnet+) and used automatic segmentation software based on FreeSurfer v6.0 to extract anatomical labels and volumes of interest in the cortex. We used analysis of covariance to investigate the differences in susceptibility among the clinical diagnostic groups in each brain region. Multivariable linear regression analysis was performed to study the association between susceptibility values and cognitive scores including the Mini-Mental State Examination (MMSE). Results: Among the three groups, the frontal (P < 0.001), temporal (P = 0.004), parietal (P = 0.001), occipital (P < 0.001), and cingulate cortices (P < 0.001) showed a higher mean susceptibility in patients with MCI and AD than in NC subjects. In the combined MCI and AD group, the mean susceptibility in the cingulate cortex (β = -216.21, P = 0.019) and insular cortex (β = -276.65, P = 0.001) were significant independent predictors of MMSE scores after correcting for age, sex, education, regional volume, and APOE4 carrier status. Conclusion: Iron deposition in the cortex, as measured by QSMnet+, was higher in patients with AD and MCI than in NC participants. Iron deposition in the cingulate and insular cortices may be an early imaging marker of cognitive impairment related neurodegeneration.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.7
• /
• pp.3319-3323
• /
• 2012

Objective: The results from the published studies on the association between prohibitin 3' untranslated region C > T gene polymorphism and cancer risk are conflicting. This meta-analysis was performed to evaluate the relationship with cancer susceptibility overall, and to explore whether the T allele or TT genotype could become a predictive marker for cancer risk. Methods: Association studies were identified from the databases of PubMed, Embase, and Cochrane Library as of March 1, 2012, and eligible investigations were synthesized using the meta-analysis method. Results were expressed with odds ratios (OR) for dichotomous data, and 95% confidence intervals (CI) were also calculated. Results: Six investigations were identified for the analysis of association between the prohibitin 3' untranslated region C > T gene polymorphism and cancer risk, covering of 1,461 patients with cancer and 1,197 controls. There was a positive association between the T allele and cancer susceptibility (OR=1.20, 95% CI: 1.03-1.39, P=0.02), and CC homozygous might play a protective role (OR=0.80, 95% CI: 0.68-6.11, P=0.95). In the sub-group analysis, prohibitin 3' untranslated region C > T gene polymorphism and cancer risk appeared associated with the risk of breast cancer, but not ovarian cancer. Conclusions: Our results indicate that T allele is a significant genetic molecular marker to predict cancer susceptibility and CC genotype is protective, especially for breast cancer. However, more investigations are required to further clarify the association of the prohibitin 3' untranslated region C > T gene polymorphism with cancer susceptibility.

• Journal of the Korean Society of Physical Medicine
• /
• v.18 no.4
• /
• pp.19-27
• /
• 2023

PURPOSE: This investigation in the study aimed to assess to determine proportion and susceptibility makers of sarcopenia in Korean younger female aged 30 to 39 years. METHODS: To address the complex sampling design of Korea National Health and Nutrition Examination Surveys, appropriate individual weights were incorporated into the analysis. The data employed a stratified, clustered, multistage probability sampling design. A total of 2,098 participants were enrolled and categorized into two groups based on their skeletal muscle mass index scores. One hundred and twenty-four individuals were placed in the sarcopenia group, while 2,024 were allocated to a normal group. The study examined various markers as variables, including age, height, weight, body mass index waist circumference, skeletal muscle mass index, systolic and diastolic blood pressure, fasting glucose, triglyceride, and total cholesterol levels, and smoking and drinking habits. RESULTS: The study found that proportion of sarcopenia in this population was 3.78% (CI: 2.89-4.94) in sarcopenia group and 96.22% (CI: 95.06-97.11) in normal with weighed values. Several susceptibilities including height, weight, BMI, waist circumference, diastolic blood pressure, and total cholesterol levels were risk factor for sarcopenia (p < .05), exhibited significant differences between the sarcopenia and normal groups. CONCLUSION: This investigation provides the proportion of sarcopenia and identifies relevant susceptibility markers among community dwelling younger women in Korea.

• Korean Journal of Poultry Science
• /
• v.36 no.4
• /
• pp.317-322
• /
• 2009

The chicken major histocompatibility complex (MHC) is known to be associated with disease resistance and susceptibility to several pathogens. The microsatellite marker LEI0258 is physically located between the BG and BF of MHC region and variations near this marker have been well documented. In this report, the LEI0258 marker was used to find specific alleles for the Korean native chicken. The MHC haplotype was analyzed by PCR screening and sequencing of LEI0258 region in four different breeds including black Korean native chicken, brown Korean native chicken, Cornish and Rhode island red. The serologically same MHC haplotypes showed the differences in repeat numbers, a few indels or single nucleotide polymorphisms by sequencing analysis. Even though we could not identify specific alleles for Korean native chickens, the genotypes analyzed in these breeds can give valuable information for the relationships with disease resistance and establishment of breeding strategies for the Korean native chicken.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.3
• /
• pp.1769-1772
• /
• 2013

A case-control study of the association of miR-499A>G rs3746444 with risk of hepatocellular carcinoma (HCC)was conducted. Patients with HCC and healthy control subjects were recruited for genotyping of miR-499A>G using duplex polymerase-chain-reaction with confronting-two-pair primer(PCR-RFLP) analysis. The MiR-499 GG genotype was associated with a decreased risk of HCC as compared with the miR-499 AA genotype (adjusted OR=0.74, 95%CI=0.24-0.96). Similarly, the GG genotype showed a 0.45-fold decreased HCC risk in a recessive model. The MiR-499 G allele was significantly associated with decreased risk of HCC among patients infected with HBV in a dominant model (OR=0.09, 95%CI= 0.02-0.29). In conclusion, the MiR-499A>G rs3746444 polymorphism is associated with HCC risk in the Chinese population, and may be useful predictive marker for CAD susceptibility.

• Proceedings of the Korean Society for Bioinformatics Conference
• /
• 2005.09a
• /
• pp.395-398
• /
• 2005

Genetic association case-control studies using DNA pools are efficient ways of detecting association between a marker allele and disease status. DNA pooling is an efficient screening method for locating susceptibility genes associated with the disease. However, DNA pooling is efficient only when allele frequency estimation is done precisely and accurately. Through the evaluation of empirical type I errors and empirical powers by simulation, we will evaluate the methods that correct for preferential amplification of nucleotides when estimating the allele frequency of single-nucleotide polymorphisms.

• Korean Journal of Agricultural Science
• /
• v.47 no.3
• /
• pp.693-705
• /
• 2020

Grapes (Vitis spp. L.) are the third most produced fruit in the world. Crown gall disease caused by Agrobacterium vitis forms galls in the stems of the grapevines and reduces the vitality of the fruit trees, resulting in reduced yields. This pathogen has occurred in vineyards worldwide and caused serious economic losses. It is a soil-borne disease, so Agrobacterium vitis can survive for several years in vineyards and is difficult to control. Additionally, since there is no effective chemical control method, the most effective control method is the breeding of resistant varieties. To make the resistant variety, marker-assisted selection (MAS) enables fast breeding with low cost. In this study, we applied a genome-wide association study (GWAS), by combining phenotyping and genotyping-by-sequencing (GBS), for the development of a single nucleotide polymorphism (SNP) marker set related to crown gall disease using 350 grapevine varieties. As a result of the GBS based genotyping analysis, about 58,635 SNPs were obtained. In addition, the phenotypic analysis showed 35.2% resistance, 73% moderate susceptibility and 16.4% highly susceptibility. Moreover, after confirmation, two genes (VvARF4 and VvATL6-like) were shown to be related to crown gall disease based on the results of GWAS analysis, using the phenotypic data, and GBS. High-resolution melting analysis (HRMA) was performed using the Luna^® Universal Probe with real-time PCR to distinguish the melting peaks of the resistant and susceptible varieties. Our data show that these SNP markers are expected to be helpful in evaluating resistance against grapevine crown gall disease and in breeding.

• Journal of Acupuncture Research
• /
• v.21 no.1
• /
• pp.86-98
• /
• 2004

Objective: The purpose of this study is to examine the susceptibility of the patients diagnosed by rheumatoid arthritis to Sasang Typology. Methods: This study are planned to detect the susceptibility of the patients diagnosed by rheumatoid arthritis to Sasang Typology. In order to analyze the susceptibility of rheumatoid arthritis to Sasang Typology, 147 rheumatoid arthritis patients and 147 matched controls are assessed with QSCC II question for Sasang Typology. Then the frequencies of patients by Sasang constitution are compared to those of control, which are statistically analyzed and adjusted by age, sex, smoking status, alchol intake, BMI, and economic status. Results: The demographic characteristics of the study population are similar in sex and age distribution, smoking status, and alcohol intake(p>0.05). 147 rheumatoid arthritis patients and 147 matched controls are assessed with QSCC II question for Sasang constitution. Soeumin is the most susceptible to rheumatoid arthritis compared to Taeumin or Soyangin(Crude OR[95% CI]; 3.82 [2.19-6.64]). It is statistically significant after adjusting age, sex, smoking status, alcohol intake, BMI, and economic status(Adjusted OR[95% CI]; 3.01[1.47-6.15]). Conclusions: It is suggested that the specific Sasang Typology associated with rheumatoid arthritis is used as its susceptibility marker and further as basic data to prevent the risk factors for rheumatoid arthritis.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.13
• /
• pp.5219-5223
• /
• 2015

Helicobacter pylori (H. pylori) infection as a serious problem in both adults and children can induce chronic gastritis, peptic ulcer disease (PUD), and possibly gastric cancer. The aim of the current study was to survey antibiotic resistance and also to determine influence of PPAR$\gamma$ polymorphism in patients with H. pylori infection. During an 11-month-period, 98 H. pylori isolates were collected from 104 biopsy specimens. In vitro susceptibility of H. pylori isolates to 4 antimicrobial agents metronidazole, clarithromycin, amoxicillin and tetracycline were assessed by quantitative method according to European Committee on Antimicrobial Susceptibility Testing (EUCAST) guideline. PPAR$\gamma$ polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism assay. The frequency of H. pylori infection in our study was 94.2%. In vitro susceptibility data showed that highest level of resistance was related to metronidazole (66.3%), and the majority of H. pylori isolates were highly susceptible to amoxicillin and tetracycline (94.9% and 96.9%, respectively). Genotypic frequencies were 25.5% for CC (Pro12Pro), 40.8% for GC (Pro12Ala) and 33.7% for GG (Ala12Ala). In our study, CG genotype had highest distributions among infected patients with H. pylori. The study suggests that the PPAR-$\gamma$ Pro12Ala polymorphism could be evaluated as a potential genetic marker for susceptibility to gastric cancer in the presence of H. pylori infection.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.9
• /
• pp.5361-5365
• /
• 2013

The objective of this study was to evaluate the influence of a genetic variant in the multidrug resistance 1 gene (MDR1) on hepatocellular carcinoma (HCC) risk. This case-control study was conducted in a Chinese population of 645 HCC cases and 658 cancer-free controls. The genotype of the c.3751G>A genetic variant in the MDR1 gene was investigated by created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods. Our data demonstrated significantly differences detected in the allelic and genotypic frequencies between HCC cases and those of cancer-free controls. Association analyses indicated that there were statistically increased risk of HCC in the homozygote comparison (AA versus (vs.) GG: OR=2.22, 95% CI 1.51-3.27, ${\chi}^2$=16.90, P<0.001), dominant model (AA/GA vs. GG: OR=1.25, 95% CI 1.00-1.55, ${\chi}^2$=3.98, P=0.046), recessive model (AA vs. GA/GG: OR=2.14, 95% CI 1.47-3.09, ${\chi}^2$=16.68, P<0.001) and allele comparison (A vs. G: OR=1.33, 95% CI 1.13-1.57, ${\chi}^2$=11.66, P=0.001). The allele-A and genotype-AA may contribute to HCC susceptibility. These preliminary findings suggest that the c.3751G>A genetic variant in the MDR1 gene is potentially related to HCC susceptibility in a Chinese Han population, and might be used as a molecular marker for evaluating HCC susceptibility.