• Genomics & Informatics
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• 제7권2호
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• pp.57-64
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• 2009

Fibrinogen alpha chain (FGA), a subunit of fibrinogen, might be a potential player for type 2 diabetes mellitus (T2DM), since the plasma levels of fibrinogen is known to be related to the incidence of T2DM. To elucidate the potential role of FGA in T2DM, we investigated whether FGA genetic variations are relevant in T2DM in the Korean population. Seven FGA single nucleotide polymorphisms (SNPs) were genotyped in Ansung and Ansan cohorts (474 T2DM subjects and 470 normal controls) in Korea. The association between SNPs and T2DM was determined by logistic regression analysis. Genetic relevance of SNPs to T2DM-related phenotypes was investigated by multiple linear regression analysis. Statistical analysis revealed that among seven FGA SNPs, significant associations with T2DM were observed in FGA rs2070011 (p=0.013-0.034, OR=0.72${\sim}$0.79), rs6050 (p=0.026${\sim}$0.048, OR=1.24${\sim}$1.37), and rs2070022 (p=0.016${\sim}$0.039, OR=0.70${\sim}$0.72). Two SNPs, rs2070011 and rs6050, also showed significant association with T2DM-related phenotypes such as triglyceride (p=0.005${\sim}$0.011 for rs2070011 and p=0.003${\sim}$0.008 for rs6050), total cholesterol (p=0.01 for rs2070011 and p=0.024 for rs6050) and fasting glucose (p=0.035${\sim}$0.036 for rs2070011 and p=0.048 for rs6050) in 470 normal controls. Our association study implies that FGA might be an important genetic factor in T2DM pathogenesis in the Korean population by affecting plasma lipid and glucose levels.

• International Journal of Oral Biology
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• 제43권1호
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• pp.5-11
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• 2018

Recent findings indicate that Type 2 taste receptors (T2Rs) are expressed outside the gustatory system, including in the gastrointestinal tracts and the exocrine glands, such as the submandibular (SM), parotid (P), lacrimal (L) glands and pancreas (PC). Specifically, T2Rs are found in some of the gastrointestinal endocrine cells, and these cells secreted peptide hormones in response to stimulation by bitter-tasting compounds. The results show that T2Rs may have significant physiological roles besides bitter taste reception. The functions of the T2Rs in the exocrine glands remain poorly understood. An expression levels analysis of T2Rs will help to determine those functions in the exocrine glands. The expression levels of the T2Rs in the exocrine glands were discovered via the qPCR. C57BL/6J mice of 42~60-day-old were used. Messenger RNAs were extracted from S, P, L and PC. Cloned DNAs were synthesized by reverse transcription. Quantitative PCRs were performed using the SYBR Green method. The expression levels of the T2Rs were calculated as relative expression levels to that of the GAPDH. The statistical significance among the observed exocrine glands was tested using the variance analysis (ANOVA test). Tas2r108, out of murine 35 T2Rs, was the most highly expressed in every observed exocrine gland. This finding was similar to previous results from tongue papillae, but the expression levels were lower than those of the tongue papillae. Tas2r137 of SM, P, L and PC were expressed a little lower than that of tongue papillae. The T2Rs in the exocrine glands may play slightly different roles from those in the tongue. We suggest that physiological studies such as a patch clamp and functional $Ca^{2+}$ imaging of acinar cells are necessary for understanding the Tas2r108 functions.

• 대한의생명과학회지
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• 제13권2호
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• pp.105-110
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• 2007

Aspartyl-tRNA synthetase (AspRS) exists in two different forms with respect to tRNA recognition. The discriminating enzyme (D-AspRS) recognizes only tRNA$^{Asp}$, while the non-discriminating one (ND-AspRS) also recognizes tRNA$^{Asn}$ and therefore forms both Asp-tRNA$^{Asn}$ and Asp-tRNA$^{Asp}$. Plus primary sequence distinguishes two general groups of AspRS. There is a predominantly bacterial-type, larger AspRS (about 580 aa) in addition to a shorter archaeal/eukaryotic type (about 430 aa). In vivo data made clear that discriminating and non-discriminating enzymes exist in both groups. The determinants in the protein sequence responsible for tRNA discrimination are not hewn. The AspRS from Acidithiobacillus ferrooxidans might be suggested ND-AspRS fur missing of AsnRS in genomic sequencing data. Therefore, we analyzed the AspRS from A. ferrooxidans with in vitro aminoacylation assay with E. coli unfractionated tRNA, in vivo missense suppression assay with tipA34 mutant and Northern hybridization with probes which were specific with tRNA$^{Asp}$ or tRNA$^{Asn}$. The AspRS from A. ferrooxidans produced more Asp-tRNA than that from E. coli. Only aspS gene from A. ferrooxidans suppressed trpA34 strain in minimal media without tryptophan. Only AspRS from A. ferrooxidans showed mischarged Asp-tRNA$^{Asn}$ band. Therefore, AspRS from A. ferrooxidans is definitely ND-AspRS.

• International Journal of Oral Biology
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• 제37권2호
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• pp.57-62
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• 2012

The nasal cavity encounters various irritants during inhalation such as dust and pathogens. To detect and remove these irritants, it has been postulated that the nasal mucosa epithelium has a specialized sensing system. The oral cavity, on the other hand, is known to have bitter taste receptors (T2Rs) that can detect harmful substances to prevent ingestion. Recently, solitary chemosensory cells expressing T2R subtypes have been found in the respiratory epithelium of rodents. In addition, T2Rs have been identified in the human airway epithelia. However, it is not clear which T2Rs are expressed in the human nasal mucosa epithelium and whether they mediate the removal of foreign materials through increased cilia movement. In our current study, we show that human T2R receptors indeed function also in the nasal mucosa epithelium. Our RT-PCR data indicate that the T2R subtypes (T2R3, T2R4, T2R5, T2R10, T2R13, T2R14, T2R39, T2R43, T2R44, T2R 45, T2R46, T2R47, T2R48, T2R49, and T2R50) are expressed in human nasal mucosa. Furthermore, we have found that T2R receptor activators such as bitter chemicals augments the ciliary beating frequency. Our results thus demonstrate that T2Rs are likely to function in the cleanup of inhaled dust and pathogens by increasing ciliary movement. This would suggest that T2Rs are feasible molecular targets for the development of novel treatment strategies for nasal infection and inflammation.

• Annals of Laboratory Medicine
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• 제38권6호
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• pp.591-598
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• 2018

Background: Forkhead box P3 (FOXP3) is an important marker of regulatory T cells. FOXP3 polymorphisms are associated with autoimmune diseases, cancers, and allograft outcomes. We examined whether single nucleotide polymorphisms (SNPs) at the FOXP3 locus are associated with clinical outcomes after allogenic hematopoietic stem cell transplantation (HSCT). Methods: Five FOXP3 SNPs (rs5902434, rs3761549, rs3761548, rs2232365, and rs2280883) were analyzed by PCR-sequencing of 172 DNA samples from allogenic HSCT patients. We examined the relationship between each SNP and the occurrence of graft-versus-host disease (GVHD), post-HSCT infection, relapse, and patient survival. Results: Patients with acute GVHD (grades II-IV) showed higher frequencies of the rs3761549 T/T genotype, rs5902434 ATT/ATT genotype, and rs2232365 G/G genotype than did patients without acute GVHD (P =0.017, odds ratio [OR]=5.3; P =0.031, OR=2.4; and P =0.023, OR=2.6, respectively). Multivariate analysis showed that the TT genotype of rs3761549 was an independent risk factor for occurrence of acute GVHD (P =0.032, hazard ratio=5.6). In contrast, the genotype frequencies of rs3761549 T/T, rs5902434 ATT/ATT, and rs2232365 G/G were lower in patients with post-HSCT infection than in patients without infection (P =0.026, P =0.046, and P =0.031, respectively). Conclusions: rs3761549, rs5902434, and rs2232365 are associated with an increased risk of acute GVHD and decreased risk of post-HSCT infection.

• Genomics & Informatics
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• 제6권3호
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• pp.99-109
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• 2008

Protein phosphorylation at tyrosine residues is a key regulatory event that modulates insulin signal transduction. We studied the PTPN1 gene with regard to susceptibility to Korean type 2 diabetes mellitus (T2DM) and its related quantitative traits. A total of seven SNPs [g.36171G>A (rs941798), g.58166G>A (rs3787343), g.58208A>G (rs2909270), g.64840C>T (rs754118), g.69560C>G (rs6020612), g.69866G>A (rs718050), and g.69934T>G (rs3787343)] were selected based on frequency (>0.05), linkage disequilibrium (LD) status, and haplotype tagging status. We studied the seven SNPs in 483 unrelated patients with type 2 diabetes (age: $64{\pm}2.8$ years, onset age: $56{\pm}8.1$ years; 206 men, 277 women) and 1138 nondiabetic control subjects (age: $64{\pm}2.9$; 516 men, 622 women). The SNP rs941798 had protective effects against T2DM with an odds ratio of 0.726 (C.I. $0.541{\sim}0.975$) and p-value=0.034, but none of the remaining six SNPs was associated with T2DM. Also, rs941798 was associated with blood pressure, HDL cholesterol, insulin sensitivity. rs941798 also has been associated with T2DM in previous reports of Caucasian-American and Hispanic-American populations. This is the first report that shows an association between PTPN1 and T2DM in the Korean as well as Asian population.

• 대한전자공학회논문지SD
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• 제40권6호
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• pp.459-468
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• 2003

본 논문에서는 차수 연산이 필요 없는 새로운 DCME 알고리즘 (Degree Computationless Modified Euclid´s Algorithm)을 사용한 저비용 고속 RS (Reed-Solomon) 복호기를 제안한다. 제안하는 구조는 차수 연산 및 비교 회로가 필요 없어 기존 수정 유클리드 구조들에 비해 매우 낮은 하드웨어 복잡도를 갖는다. 시스톨릭 에레이 (systolic array)를 이용한 제안하는 구조는 키 방정식 (key equation) 연산을 위해서 초기 지연 없이 2t 클록 사이클만을 필요로 한다. 또한, 3t＋2개의 기본 셀 (basic cell)을 사용하는 DCME 구조는 오직 하나의 PE (processing element)를 사용하므로 규칙성 (regularity) 및 비례성(scalability)을 갖는다. 0.25㎛ Faraday 라이브러리를 사용하여 논리합성을 수행한 RS 복호기는 200㎒의 동작 주파수 및 1.6Gbps의 데이터 처리 속도를 갖는다. (255, 239, 8) RS 코드 복호를 수행하는 DCME 구조와 전체 RS 복호기의 게이트 수는 각각 21,760개와 42,213개이다. 제안하는 RS 복호기는 기존 RS 복호기들에 비해 23%의 게이트 수 절감 및 전체 지연 시간의 10%가 향상되었다.

• Animal Bioscience
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• 제36권9호
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• pp.1357-1366
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• 2023

Objective: This study aimed to identify the single-nucleotide polymorphisms (SNPs) in the dual-specificity phosphatase 8 (DUSP8) and insulin-like growth factor 2 (IGF2) genes and to explore their effects on inosine-5'-monophosphate (IMP), inosine, and hypoxanthine contents in Korean native chicken -red-brown line (KNC-R Line). Methods: A total sample of 284 (males, n = 127; females n = 157) and 230 (males, n = 106; females, n = 124) aged of 10 weeks old KNC-R line was used for genotyping of DUSP8 and IGF2 genes, respectively. One SNP (rs313443014 C>T) in DUSP8 gene and two SNPs (rs315806609A/G and rs313810945T/C) in IGF2 gene were used for genotyping by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and KASP methods, respectively. The Two-way analysis of variance of the R program was used to associate DUSP8 and IGF2 genotypes with nucleotide contents in KNC-R chickens. Results: The DUSP8 (rs313443014 C>T) was polymorphic in KNC-R line and showed three genotypes: CC, CT, and TT. The IGF2 gene (rs315806609A/G and rs313810945T/C) was also polymorphic and had three genotypes per SNP, including GG, AG, and AA for the SNP rs315806609A/G and genotypes: CC, CT, and TT for the SNP rs313810945T/C. Association resulted into a strong significant association (p<0.01) with IMP, inosine, and hypoxanthine. Moreover, the significant effect of sex (p<0.05) on nucleotide content was also observed. Conclusion: The SNPs in the DUSP8 and IGF2 genes might be used as genetic markers in the selection and production of chickens with highly flavored meat.

• Asian Pacific Journal of Cancer Prevention
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• 제17권8호
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• pp.4063-4070
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• 2016

Background: Cytochrome P450 2E1 (CYP2E1) and catechol-O-methyltransferase (COMT) genes may contribute to susceptibility to lung cancer because of their critical involvement in mechanisms of carcinogenesis. Materials and Methods: We evaluated the role of CYP2E1 rs2031920 and COMT rs4680 in a case-control study involving 462 lung cancer cases and 379 controls in Japanese. Logistic regression was used to assess adjusted odds ratios (OR) and 95% confidence intervals (CI). Multiplicative and additive interactions with cigarette smoking or alcohol use were also examined. Results: Neither CYP2E1 rs2031920 nor COMT rs4680 was associated with lung cancer risk overall. However, smokers with the CC genotype of CYP2E1 rs2031920 (OR = 3.57, 95% CI = 2.26 - 5.63) presented a higher risk of lung cancer than those with at least one T allele (OR = 2.91, 95% CI = 1.70 - 4.98) as compared to never-smokers with at least one T allele (reference). Subjects with excessive drinking and the CC genotype of CYP2E1 rs2031920 had a significantly higher risk (OR = 2.22, 95% CI =1.39 - 3.56) than appropriate drinkers with at least one T allele. A similar tendency was observed between COMT rs4680 and either smoking or drinking habits. There were no multiplicative or additive interactions between the polymorphisms and either smoking or alcohol use. Conclusions: Our findings indicate that CYP2E1 rs2031920 and COMT rs4680 are not major contributors to lung cancer risk in our Japanese population. Future studies on the genetics of lung cancer in Japanese and their environment interactions are required.

• Molecular & Cellular Toxicology
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• 제4권2호
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• pp.124-131
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• 2008

The growing problem of obesity is associated with numerous medical conditions. Several studies have reported that activation of thyroid hormone receptor beta $(THR{\beta})$ is involved in lipid metabolism and thermogenesis. To identify the relationship between the $THR{\beta}$ gene and obesity, we genotyped eighty two single nucleotide polymorphisms (SNPs) in the gene using the Affymetrix array chip in 209 overweight/obese and 155 normal subjects in Korean population. Of the eighty two polymorphisms, the seven SNPs exhibited a significant association with overweight/obesity in three alternative models (codominant, dominant, and recessive models; P<0.05 after adjusting for age and sex) were rs826221 (+267878 T>C), rs4858604 (+186399 A>G), rs1158265 (+200152 T>C), rs1868575 (+206031 G>A), rs1700939 (+238467 T>A), rs1505301 (+241933 T>C), and rs1924768 (+126491 T>C). During haplotype analysis using HapAnalyzer software, 2 haplotypes (block 13: TTAT; block 15: CTGC) containing significant polymorphisms (rs1700939 +238467 T>A and rs4858604 +186399 A>G) were detected to be significantly different. The results suggest that the $THR{\beta}$ gene may be associated with overweight/obesity in Korean population.