Biomarkers of suicidal behavior (SB), particularly peripheral biomarkers, may aid in the development of preventive and intervention strategies. The peripheral biomarkers of SB should be easily accessible, cost-effective, and minimally invasive. To identify peripheral biomarkers of SB, we summarized the current knowledge related to SB biomarkers with a focus on suicidal outcomes (suicidal ideation [SI], suicide risk [SR], suicide attempt [SA], and suicide death [SD]), measured site (center or periphery), and study design (cross-sectional or longitudinal). We also evaluated the central findings to validate the findings of peripheral biomarkers of SB. We found reduced peripheral interleukin (IL)-2 levels in individuals with a recent SA, higher cerebrospinal fluid (CSF) IL-6 levels in patients with a current SR and future SD, higher CSF tumor necrosis factor-α levels for current and future SRs, higher high-sensitivity C-reactive protein levels and lower peripheral total cholesterol levels for recent SAs, lower peripheral 5-HT levels for present SR, and a lower folate level for future SR and SA within 1 year. Previous studies have shown inconsistent associations of low peripheral leptin levels with SR and recent SA; therefore, further study is required. Given the multiple determinants of SB and weak associations with single biological markers, combinations of potential biological markers rather than single markers may improve the screening, diagnosis, and prediction of SB.

Background: As the number of large-scale studies involving multiple organizations producing data has steadily increased, an integrated system for a common interoperable format is needed. In response to the coronavirus disease 2019 (COVID-19) pandemic, a number of global efforts are underway to develop vaccines and therapeutics. We are therefore observing an explosion in the proliferation of COVID-19 data, and interoperability is highly requested in multiple institutions participating simultaneously in COVID-19 pandemic research. Results: In this study, a laboratory information management system (LIMS) approach has been adopted to systemically manage various COVID-19 non-clinical trial data, including mortality, clinical signs, body weight, body temperature, organ weights, viral titer (viral replication and viral RNA), and multiorgan histopathology, from multiple institutions based on a web interface. The main aim of the implemented system is to integrate, standardize, and organize data collected from laboratories in multiple institutes for COVID-19 non-clinical efficacy testings. Six animal biosafety level 3 institutions proved the feasibility of our system. Substantial benefits were shown by maximizing collaborative high-quality non-clinical research. Conclusions This LIMS platform can be used for future outbreaks, leading to accelerated medical product development through the systematic management of extensive data from non-clinical animal studies.

Forensic DNA phenotyping (FDP) using human externally visible characteristics (EVCs) is an emerging new technique that allows for the prediction of phenotypic traits of a person of interest using relevant sets of genetic markers. This technique predicts not only physical appearances, but also the behavioral characteristics as well as biogeographical information, serving as a powerful supplementary tool to narrow down the investigative pool in various forensic cases. Over the past few years, many countries, Europe and America being at the forefront, have conducted significant research to identify related markers for predicting pigmentation traits such as eye, hair, and skin color. Furthermore, some commercial platforms are now available for practical use in forensic cases. Korea and other Asian countries have also dedicated remarkable research to identify relevant markers to utilize FDP in forensic investigations. However, a slightly different approach is needed because Asians have limited phenotypic variations than Western populations. Thus, medically irrelevant and simple propensity traits such as smoking and alcohol consumption could be used to compensate for the limited phenotypic variations. This article is intended to inform readers about the progress and worldwide trends in EVC research, as well as the whereabouts and future prospects of FDP-related research in Korea. Although various legal and ethical disputes must be resolved beforehand, employing an FDP system can certainly be a powerful complementary tool for providing additional clues in forensic investigations.
Alcohol Drinking ; Americas ; Asian Continental Ancestry Group ; Dissent and Disputes ; DNA* ; Europe ; Genetic Markers ; Hair ; Humans ; Investigative Techniques ; Korea ; Phenotype ; Pigmentation ; Polymorphism, Single Nucleotide ; Skin Pigmentation ; Smoke ; Smoking

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Adult ; Age of Onset ; Alleles ; Basal Ganglia ; Brain ; Dystonia ; Freezing ; Gait ; Gene Frequency ; Genetic Association Studies ; Humans ; Iron ; Korea ; Movement Disorders ; Neurodegenerative Diseases ; Pantothenate Kinase-Associated Neurodegeneration* ; Parkinsonian Disorders ; Phenotype ; Population Characteristics* ; Referral and Consultation ; Weather

Recently, it has been reported that transfused patients can generate admixture-like genetic profiles. As genetic material of the donor can survive for a reasonable time after transfusion, the recipient's genomic DNA is likely to have a mixture pattern. An autopsy case of a man transfused perimortem generated a mixture patterned short tandem repeat profile. Notably, the patient was transfused mostly with nuclear-deficient cells, limiting the donor genetic material available for the recipient. As a result, mixture-like patterns were observed consistently, regardless of change in input DNA content; the sample DNA content, which was serially diluted, ranged from 1 ng to 0.0625 ng. The distributions of foreign peaks appeared to be irreproducible, showing stochastic behaviors throughout the genotyped results. This study suggests that a cautious approach is required when genotyping of a patient who has undergone recent transfusion. One must consider the possibility of obtaining a mixture patterned profile in such patients, and therefore, choose parenchymal organs or tissues for reliable results.
Autopsy ; Blood Transfusion ; DNA ; DNA Fingerprinting ; Humans ; Microsatellite Repeats* ; Tissue Donors

We have been testing familial relationships based on short tandem repeats (STRs) in families who requested it either voluntarily or by order of the court. Here, we present a summary of our 5-year experience of autosomal STR-based paternity tests. A total of 1,431 individuals from 588 cases were tested, including 878 pairs of either of the parent, and a child. Among these 588 cases, genetic information about the other parent was available only for 135 cases. Five hundred eighteen pairs were concluded to be parent-child relations, for which the median paternity index (PI) was 72,826, and the median decimal logarithm was 4.860. Autosomal mutation was observed in nine pairs (1.74%), and the pairs harbored only one mismatched locus among the 15 standard loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA). The number of mismatched loci did not increase even after additional loci were included in the study. The observed mutation rates were D13S317 (0.193%), D18S51 (0.193%), D19S433 (0.193%), FGA (0.193%), vWA (0.386%), Penta D (0.387%), and Penta E (0.193%). There were 14 pairs with two mismatched loci, which we excluded through additional tests on either autosomal or X chromosomal STRs, and mitochondrial sequencing. Although PI is useful for determining parent-child relation, it provides indirect information; it is an interpretation of the test results that is based on probability. Additional genotyping on sex chromosome and mitochondrial DNA, or participation of other family members might be beneficial for a reliable conclusion.
Child ; DNA, Mitochondrial ; Humans ; Microsatellite Repeats ; Mutation Rate ; Parent-Child Relations ; Parents ; Paternity* ; Sex Chromosomes

Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.
Amelogenin ; Female ; Genes, sry ; Humans ; Karyotype ; Klinefelter Syndrome ; Male ; Y Chromosome

With globalization, international exchange has increased. Accordingly, the necessity for individual identification using genetic polymorphism has also increased. Paternal lineages are distributed differently, and different distribution patterns can be used to predict ancestry. We studied the distribution pattern of different paternal lineages in Korea and compared them with other populations. All 30 SNPs on the Y chromosome were selected for paternal lineage confirmation. Loci that could subclassify haplogroup O, the most frequent in the East Asian population, were added. After multiplex amplification for the target loci, SBE reactions were set up for each SNP site. One hundred Korean men as well as 60 Chinese, 60 Japanese, 19 African-American, 48 Caucasian, and 47 Mexican American were tested and compared. Five Y haplogroups [C (C3), D (D2), NO, O, Q (Q1a1)] were found in Koreans, with haplogroup O being the most frequent. Haplogroup O sub-classified into O* (24%), O1 (6%), O2b (39%), O3a3c (4%), O3a3c1 (13%), and O3a3b(1%). This distribution pattern was similar to that of Chinese or Japanese, but minor differences were noted. With Fst, the Korean and Japanese patterns were close (0.01757) when using 6 SNPs. There were significant differences between Koreans and African Americans, Caucasians and Mexican Americans, and they were easily discernible without requiring haplogroup O sub-classification. Sub-classification of haplogroup O is likely to be useful for East Asia group comparisons. Additional studies in populations from different areas of China or Japan or studies of mtDNA or autosomes may enhance the discrimatory power of genetic polymorphism in different Asian populations.
African Americans ; Asian Continental Ancestry Group ; China ; DNA, Mitochondrial ; Far East ; Humans ; Internationality ; Japan ; Korea ; Male ; Mexican Americans ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Y Chromosome

BACKGROUND: Abnormal expansion of trinucleotide repeats in genes causing spinocerebellar ataxias such as SCA2, SCA3, SCA8, or SCA17 was reported in sporadic or familial Parkinson's disease. Genetic factors play an important role especially in early-onset Parkinson's disease (EOPD). To investigate mutations of ATXN2, ATXN3, and TBP as a possible cause in Korean EOPD, we analyzed mutations in these genes. We also investgated the possibility that trinucleotide repeats numbers in these genes contribute to the development of EOPD. METHODS: Mutation analysis of ATXN2, ATXN3, and TBP was done in 153 EOPD defined as age-at-onset before 51. Distribution of CAG repeats numbers were compared between EOPD and age- and sex-matched controls. RESULTS: No patients with EOPD had CAG repeats numbers in ATXN2, ATXN3, and TBP in mutation range. There was no difference in the distribution of CAG repeats between EOPD and controls, although we found a trend that CAG repeats numbers in ATXN3 appear larger in EOPD than in controls. CONCLUSIONS: Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.
Humans ; Organophosphates ; Parkinson Disease ; Spinocerebellar Ataxias ; Trinucleotide Repeats

OBJECTIVE: To determine the frequency and degree on change in mammographic densities, and calcification in the breast tissue, during different types of hormone replacement therapy and to evaluate the factors that play a role on the breast cancer. METHOD: A retrospective review of 268 cases menopausal women for HRT group and 52 cases menopausal women for unmatched control group. Mammographic evaluations for the distribution of breast densities and calcification, new solid mass and cyst in four different type of HRT were performed each every year during 5 years. The significant increase of breast densities and calcifications and new formation of neoplasm were taken with breast sonogram. 10 cases were biopsied for the confirmation of maliganancy. RESULT: Compared with the conrol groups, the hormone user group have a significant increase in the breast densitiy for 5 years (p<0.05), and the addition of progesterone in HRT showed a significant increase in the breast densities during 5 years (p<0.05), but we cannot find the correlation for new formation of solid mass and cyst and HRT (p>0.05). Among 10 cases in suspicious malignancy, 9 cases were confirmed to the malignancy by biopsy. CONCLUSION: The results of this study revealed that not only progesterone combined HRT but also estrogen only HRT significantly increased mammographic density. There is no relationship on the calcification and HRT in this study. The annual checking of mammography is necessary to HRT.
Biopsy ; Breast Neoplasms ; Breast* ; Estrogens ; Female ; Hormone Replacement Therapy* ; Humans ; Mammography ; Progesterone ; Retrospective Studies