• Journal of Korean Neurosurgical Society
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• 제52권1호
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• pp.7-13
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• 2012

Objective : The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of fibroblast growth factor (FGF) 2 gene and fibroblast growth factor receptor (FGFR) genes are associated with ossification of the posterior longitudinal ligament (OPLL). Methods : A total of 157 patients with OPLL and 222 controls were recruited for a case control association study investigating the relationship between SNPs of FGF2, FGFR1, FGFR2 and OPLL. To identify the association among polymorphisms of FGF2 gene, FGFR1, FGFR2 genes and OPLL, the authors genotyped 9 SNPs of the genes (FGF2 : rs1476217, rs308395, rs308397, and rs3747676; FGFR1 : rs13317 and rs2467531; FGFR2 : rs755793, rs1047100, and rs3135831) using direct sequencing method. SNPs data were analyzed using the SNPStats, SNPAnalyzer, Haploview, and Helixtree programs. Results : Of the SNPs, a SNP (rs13317) in FGFR1 was significantly associated with the susceptibility of OPLL in the codominant (odds ratio=1.35, 95% confidence interval=1.01-1.81, p=0.048) and recessive model (odds ratio=2.00, 95% confidence interval=1.11-3.59, p=0.020). The analysis adjusted for associated condition showed that the SNP of rs1476217 (p=0.03), rs3747676 (p=0.01) polymorphisms in the FGF2 were associated with diffuse idiopathic skeletal hyperostosis (DISH) and rs1476217 (p=0.01) in the FGF2 was associated with ossification of the ligament flavum (OLF). Conclusion : The results of the present study revealed that an FGFR1 SNP was significantly associated with OPLL and that a SNP in FGF2 was associated with conditions that were comorbid with OPLL (DISH and OLF).

• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8405-8410
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• 2016

Hepatitis B virus (HBV) infection is the leading cause of hepatocellular carcinoma (HCC) development. Recent studies demonstrated that single nucleotide polymorphisms (SNPs) rs2293152 in signal transducer and activator of transcription 3 (STAT3) and rs7574865 in signal transducer and activator of transcription 4 (STAT4) are associated with chronic hepatitis B (CHB)-related HCC in the Chinese population. We hypothesized that these polymorphisms might be related to HCC susceptibility in Thai population as well. Study subjects were divided into 3 groups consisting of CHB-related HCC (n=192), CHB without HCC (n=200) and healthy controls (n=190). The studied SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results showed that the distribution of different genotypes for both polymorphisms were in Hardy-Weinberg equilibrium (P>0.05). Our data demonstrated positive association of rs7574865 with HCC risk when compared to healthy controls under an additive model (GG versus TT: odds ratio (OR)=2.07, 95% confidence interval (CI)=1.06-4.03, P=0.033). This correlation remained significant under allelic and recessive models (OR=1.46, 95% CI=1.09-1.96, P=0.012 and OR=1.71, 95% CI=1.13-2.59, P=0.011, respectively). However, no significant association between rs2293152 and HCC development was observed. These data suggest that SNP rs7574865 in STAT4 might contribute to progression to HCC in the Thai population.

• International Journal of Industrial Entomology and Biomaterials
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• 제45권1호
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• pp.29-34
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• 2022

Silkworms have recently attracted attention as healthy functional foods. Different varieties of silkworms have functional differences; thus, there is an emerging need for variety identification. In this study, we sequenced complete mitochondrial genomes (mitogenomes) of ten government-recommended silkworm varieties (BaekHwang, BaekOk, DaeBaek, DaeBak, DaeHwang, GoldenSilk, HanSaeng, JooHwang, KumKang, and KumOk). Comparison of these sequences allowed us to select the single nucleotide polymorphisms (SNPs) in 34 sites that are specific to six silkworm varieties: 13 in DaeBak, 8 in GoldenSilk, 9 in KumKang, 2 in BaekHwang, 1 in BaekOk, and 1 in DaeHwang. Among these each one SNP per variety was amplified by preparing variety-specific primers and then using tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR). As a result, it was possible to identify these six varieties among the ten silkworm varieties, evidencing that SNPs developed from mitogenomes are useful marker for the discrimination of genetically closer silkworm varieties.

• Plant Breeding and Biotechnology
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• 제6권4호
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• pp.391-403
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• 2018

Genome resequencing by next-generation sequencing technology can reveal numerous single nucleotide polymorphisms (SNPs) within a closely-related cultivar group, which would enable the development of sufficient SNP markers for mapping and the identification of useful genes present in the cultivar group. We analyzed genome sequence data from 13 Korean japonica rice varieties and discovered 740,566 SNPs. The SNPs were distributed at 100-kbp intervals throughout the rice genome, although the SNP density was uneven among the chromosomes. Of the 740,566 SNPs, 1,014 SNP sites were selected on the basis of polymorphism information content (PIC) value higher than 0.4 per 200-kbp interval, and 506 of these SNPs were converted to Kompetitive Allele-Specific PCR (KASP) markers. The 506 KASP markers were tested for genotyping with the 13 sequenced Korean japonica rice varieties, and polymorphisms were detected in 400 KASP markers (79.1%) which would be suitable for genetic analysis and molecular breeding. Additionally, a genetic map comprising 205 KASP markers was successfully constructed with 188 $F_2$ progenies derived from a cross between the varieties, Junam and Nampyeong. In a phylogenetic analysis with 81 KASP markers, 13 Korean japonica varieties showed close genetic relationships and were divided into three groups. More KASP markers are being developed and these markers will be utilized in gene mapping, quantitative trait locus (QTL) analysis, marker-assisted selection and other strategies relevant to crop improvement.

• Asian-Australasian Journal of Animal Sciences
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• 제33권10호
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• pp.1558-1565
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• 2020

Objective: The objective of this study was to characterize the number of loci affecting growth traits and the distribution of single nucleotide polymorphism (SNP) effects on growth traits, and to understand the genetic architecture for growth traits in Hanwoo (Korean cattle) using genome-wide association study (GWAS), genomic partitioning, and hierarchical Bayesian mixture models. Methods: GWAS: A single-marker regression-based mixed model was used to test the association between SNPs and causal variants. A genotype relationship matrix was fitted as a random effect in this linear mixed model to correct the genetic structure of a sire family. Genomic restricted maximum likelihood and BayesR: A priori information included setting the fixed additive genetic variance to a pre-specified value; the first mixture component was set to zero, the second to 0.0001×σ²_g, the third 0.001×σ²_g, and the fourth to 0.01×σ²_g. BayesR fixed a priori information was not more than 1% of the genetic variance for each of the SNPs affecting the mixed distribution. Results: The GWAS revealed common genomic regions of 2 Mb on bovine chromosome 14 (BTA14) and 3 had a moderate effect that may contain causal variants for body weight at 6, 12, 18, and 24 months. This genomic region explained approximately 10% of the variance against total additive genetic variance and body weight heritability at 12, 18, and 24 months. BayesR identified the exact genomic region containing causal SNPs on BTA14, 3, and 22. However, the genetic variance explained by each chromosome or SNP was estimated to be very small compared to the total additive genetic variance. Causal SNPs for growth trait on BTA14 explained only 0.04% to 0.5% of the genetic variance Conclusion: Segregating mutations have a moderate effect on BTA14, 3, and 19; many other loci with small effects on growth traits at different ages were also identified.

• 생명과학회지
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• 제17권11호
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• pp.1505-1510
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• 2007

본 연구는 돼지 4번 염색체에서 FAT1 좌위의 후보유전자인 Adipocyte Fatty-Acid 결합단백질 (FABP4) 유전자에서 8개의 Single Nucleotide Polymorphisms (SNPs)를 발견하였다. Duroc, Landrace, Berkshire, Yorkshire를 기초 축으로 이용한 800두에 대해 FABP4 유전자의 단일염기 분석과 PCR-RFLP를 이용하여 그 다형성을 조사하고 돼지의 일당증체량, 등지방두께, 사료요구율, 정육율과 그 유전자형간의 연관성을 규명하고자 실시하였다. FABP4 유전자에 대해 각 단일염기에 관한 PCR-RFLP를 이용하여 $400{\sim}800\;bp$ 산물을 증폭한 후 각각의 제한효소로 사용하여, 얻어진 FABP4 유전자의 빈도는 품종별로 다르게 나타났다. 통계적 분석을 통하여 각 유전자형에 대한 경제 형 질과 연관성을 분석한 결과 일당증체량, 등지방두께, 정육율, 사료요구량은 다른 유전자형을 가진 개체들이 유의적으로 우수한 능력을 보였다 (P<0.05). FABP4유전자는 일당증체량, 정육율, 등지방두께에 높은 연관성이 있음을 관찰하였다. 따라서 돼지의 성장과 정육율에 관련된 선발력을 높이기 위해서 FABP4 유전자의 다형성 분석에서 검증된 PCR marker를 우량돼지육종 계획에 있어 분자생물학적 선발 marker로 사용할 수 있을 것으로 사료된다.

• 생명과학회지
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• 제18권6호
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• pp.770-775
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• 2008

돼지 2번 염색체의 육질 관련 양적 경제형질에 관한 연구보고가 몇몇 이루어 지고 있다. 양돈업계에서 DNA 기술을 이용한 염색체 정보를 활용하기 위해 본 연구에서는 13개의 후보 유전자에서 생성된 중합효소연쇄반응(PCR) 생성물을 비교 재서열 함으로써 단일염기변이(SNP) 표지들을 개발했다. 11개의 중합효소연쇄반응 생성물에서 296 bp마다 에서 평균 하나의 SNP, 총 34개의 SNP를 발견하였다. 또한 11개의 SNP에 대한 PCR 제한효소길이 절편길이 다형성(RFLP) 분석을 전개한 후, 이를 대한민국 상업돈 4품종 개체군의 유전자형을 분석하는데 활용하였다. 본 연구는 유용한 단일염기변이를 식별하고 돼지 개체군 내 경제적으로 중요한 특성들과 SNP의 연관성을 확인하는 데 그 목적이 있다.

• 대한임상검사과학회지
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• 제55권4호
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• pp.291-297
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• 2023

위염과 위궤양은 위 점막에 염증이 생기고 상처가 생기는 것을 말한다. 과거 연구는 주로 환경적 요인이 위 질환의 주요 요인이라는 관점에서 이루어졌으나, 최근 유전자 연구의 발전으로 유전적 요인의 중요성이 강조되고 있다. SLC25A26은 활성산 소종의 축적과 관련이 있는 유전자이다. 산화 스트레스는 염증반응을 촉진하여 활성 산소를 증가시키고 세포 손상을 유발하기 때문에 이는 위 질환의 발생과 관련이 있을 것이라 추정된다. 본 연구에서는 SLC25A26과 위 질환과의 연관성을 분석하였다. 국내 위 질환 환자 1,369명과 건강한 대조군 7,471명을 대상으로 SLC25A26 내 다형성을 분석하였다. 그 결과 11개의 단일 염기 다형성(single nucleotide polymorphism, SNP) (genotype)과 13개의 SNP (imputation)가 통계적인 유의성(P<0.05)을 가지고 높은 위 질환과의 상대 위험도를 보였다. 그 중 SLC25A26의 rs13874가 위 질환과 높은 연관성을 보였다. 유전자형 기반 mRNA 발현 분석에 따르면 SLC25A26이 minor allele를 가지면 mRNA 발현이 증가하고 이는 산화 스트레스를 증가시킬 가능성이 있다. 결론적으로 SLC25A26 다형성은 위질환과 관련이 있어 우리나라 인구에서 위 질환 관리의 새로운 지침에 대한 근거를 제공할 수 있을 것이다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.5105-5111
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• 2012

Background: Published data on the association between single nucleotide polymorphisms (SNPs) in the ESR1 gene and breast cancer susceptibility are inconclusive or controversial. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to derive a more precise estimation of this relationship. Methods: A literature search of Pubmed, Embase, Web of science and CBM databases was conducted from inception through September 1th, 2012. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: A total of five studies including 1,678 breast cancer cases and 1,678 general population controls in Asian populations were involved in this meta-analysis. When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of ESR1 PvuII (C>T) (rs2234693) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%CI: 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858). Nevertheless, no significant association between ESR1 XbaI (A>G) (rs9340799) polymorphism and the risk of breast cancer was observed in pre-menopausal and post-menopausal individuals. Conclusion: Based on a homogeneous Asian population, results from the current meta-analysis indicates that the ESR1 PvuII (C>T) polymorphism places pre-menopausal breast cancer women at risk for breast cancer, while ESR1 XbaI (A>G) polymorphism is not likely to predict the risk of breast cancer.

• Asian-Australasian Journal of Animal Sciences
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• 제21권12호
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• pp.1703-1709
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• 2008

As genetic markers, single nucleotide polymorphisms (SNP) are very appropriate for the development of genetic tests for economic traits in livestock. Several microsatellite markers have been identified as useful markers for the genetic improvement of Hanwoo. Among those markers, ILSTS035 was recently mapped at a similar position with four SNPs (AH1_11, AH1_9, 31465_446, and 12273_165) in a linkage map of EST-based SNP in BAT6. Among the four SNPs, two SNPs (31465_446 and 12273_165) were analyzed using BLAST at the NCBI web site. The sequences including the 12273_165 SNP were identified at the intron region within the LOC534614 gene on the gene sequence map (Bos taurus NCBI Map view, build 3.1). The LOC534614 gene represents a protein similar to myosin heavy chain, fat skeletal muscle, embryonic isoform 1 in the dog, and myosin_1 (Myosin heavy chain D) in Macaca mulatta. In cattle, the myosin heavy chain was associated with muscle development. The phenotypic data for growth and carcass traits in the 415 animals were analyzed by the mixed ANCOVA (analysis of covariance) linear model using PROC GLM module in SAS v9.1. By the genotyping of Hanwoo individuals (n = 415) to evaluate the association of SNP with growth and carcass traits, it was shown that the 12273_165 SNP region within LOC534614 may be a candidate marker for growth. The results of the statistical analyses suggested that the genotype of the 12273_165 SNP significantly affected birth weight, weight of the cattle at 24 months of age, average daily gain and carcass cold weight (p<0.05). Consequently, the 12273_165 SNP polymorphisms at the LOC534614 gene may be associated with growth in Hanwoo, and functional validation of polymorphisms in LOC534614 should be performed in the future.