• Title/Summary/Keyword: SNPs

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Role of MYH Polymorphisms in Sporadic Colorectal Cancer in China: A Case-control, Population-based Study

  • Yang, Liu;Huang, Xin-En;Xu, Lin;Zhou, Jian-Nong;Yu, Dong-Sheng;Zhou, Xin;Li, Dong-Zheng;Guan, Xin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6403-6409
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    • 2013
  • Purpose: Biallelic germline variants of the 8-hydroxyguanine (8-OG) repair gene MYH have been associated with colorectal neoplasms that display somatic $G:C{\rightarrow}T:A$ transversions. However, the effect of single germline variants has not been widely studied, prompting the present investigation of monoallelic MYH variants and susceptibility to sporadic colorectal cancer (CRC) in a Chinese population. Patients and Methods: Between January 2006 and December 2012, 400 cases of sporadic CRC and 600 age- and sex-matched normal blood donors were screened randomly for 7 potentially pathogenic germline MYH exons using genetic testing technology. Variants of heterozygosity at the MYH locus were assessed in both sporadic cancer patients and healthy controls. Univariate and multivariate analyses were performed to determine risk factors for cancer onset. Results: Five monoallelic single nucleotide polymorphisms (SNPs) were identified in the 7 exon regions of MYH, which were detected in 75 (18.75%) of 400 CRC patients as well as 42 (7%) of 600 normal controls. The region of exon 1 proved to be a linked polymorphic region for the first time, a triple linked variant including exon 1-316 $G{\rightarrow}A$, exon 1-292 $G{\rightarrow}A$ and intron 1+11 $C{\rightarrow}T$, being identified in 13 CRC patients and 2 normal blood donors. A variant of base replacement, intron 10-2 $A{\rightarrow}G$, was identified in the exon 10 region in 21 cases and 7 controls, while a similar type of variant in the exon 13 region, intron 13+12 $C{\rightarrow}T$, was identified in 8 cases and 6 controls. Not the only but a newly missense variant in the present study, p. V463E (Exon 14+74 $T{\rightarrow}A$), was identified in exon 14 in 6 patients and 1 normal control. In exon 16, nt. 1678-80 del GTT with loss of heterozygosity (LOH) was identified in 27 CRC cases and 26 controls. There was no Y165C in exon 7 or G382D in exon 14, the hot-spot variants which have been reported most frequently in Caucasian studies. After univariate analysis and multivariate analysis, the linked variant in exon 1 region (p=0.002), intron 10-2 $A{\rightarrow}G$ (p=0.004) and p. V463E (p=0.036) in the MYH gene were selected as 3 independent risk factors for CRC. Conclusions: According to these results, the linked variant in Exon 1 region, Intron 10-2 $A{\rightarrow}G$ of base replacement and p. V463E of missense variant, the 3 heterozygosity variants of MYH gene in a Chinese population, may relate to the susceptibility to sporadic CRC. Lack of the hot-spot variants of Caucasians in the present study may due to the ethnic difference in MYH gene.

Novel quantitative trait loci for the strong-culm and high-yield related traits in rice detected from the F2 population between the super thick-culm and super grain-bearing line 'LTAT-29' and the high-yielding variety 'Takanari'

  • Nomura, Tomohiro;Yamamoto, Toshio;Ueda, Tadamasa;Yonemaru, Junichi;Abe, Akira;Adachi, Shunsuke;Hirasawa, Tadashi;Ookawa, Taiichiro
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.95-95
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    • 2017
  • Lodging is a serious issue in rice production, because it drastically decreases the biomass production and grain yield. Since the Green Revolution, the lodging resistance has been increased by lowering the moment of above-ground parts due to the short culm by the semi-dwarf gene sd1. However, it has been pointed out that sd1 alone has suppressive effects for biomass production and yield. To increase rice yield, the long-culm and large panicle type varieties with a superior lodging resistance need to be developed. To improve the lodging resistance and yield of these type varieties, it would be effective to identify novel alleles for these traits underlying natural variations in rice and to pyramid these alleles to a single rice variety. In order to perform this strategy, we have developed new rice lines derived from crosses among varieties with superior alleles. At first, TULT-gh-5-5 was selected from a cross between strong culm and high biomass variety Leaf Star and high-yielding variety Takanari, and TUAT-32HB was selected from a cross between high-yielding variety Akenohoshi and Takanari. Then, we developed the super thick-culm and super grain-bearing line, LTAT-29 derived from a cross between TULT-gh-5-5 and TUAT-32HB. In the current study, to identify the QTLs and genes relating to the strong culm and the high yield of LTAT-29, we performed QTL analysis using SNPs markers with $F_2$ population derived from a cross between LTAT-29 and Takanari. LTAT-29 has never lodged throughout the growth period despite it had long culms and heavy panicles. LTAT-29 had a larger outer diameter of the culm and twice the size of the section modulus than Takanari. As a result, the bending moment at breaking of LTAT-29 was significantly larger than that of Takanari. Brown rice yield of LTAT-29 was $9.2t\;ha^{-1}$ about 10% higher than that of Takanari due to the larger number of spikelets per panicle. LTAT-29 had a greater number of secondary branches per panicle. In the $F_2$ population between LTAT-29 and Takanari, we found continuous frequency distributions in the section modulus and the spikelet number per panicle. Two QTLs increased the section modulus by the alleles of LTAT-29 were detected on Chr.1L and Chr.2L. One QTL increased the spikelet number per panicle of Takanari by the allele of LTAT-29 was detected on Chr.1L, and two QTLs increased the number of secondary branches per panicle by the alleles of LTAT-29 were detected on Chr.1L and Chr.4L. It was found that the alleles of these QTLs were the japonica type originated from Leaf Star or Akenohoshi. The novel QTLs for the traits related to super thick-culm and super grain-bearing and their combinations could be utilized for improving the lodging resistance and yield in rice varieties.

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Susceptibility Loci Associations with Prostate Cancer Risk in Northern Chinese Men

  • Wang, Na-Na;Xu, Yong;Yang, Kuo;Wei, Dong;Zhang, Yao-Guang;Liu, Ming;Shi, Xiao-Hong;Liang, Si-Ying;Sun, Liang;Zhu, Xiao-Quan;Yang, Yi-Ge;Tang, Lei;Zhao, Cheng-Xiao;Wang, Xin;Chen, Xin;Hui, Juan;Zhang, Yu-Hong;Zhu, Ling;Yang, Fan;Zhang, Yu-Rong;Yang, Ze;Wang, Jian-Ye
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3075-3078
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    • 2013
  • Background: KLK3 gene products, like human prostate-specific antigen (PSA), are important biomarkers in the clinical diagnosis of prostate cancer (PCa). G protein-coupled receptor RFX6, C2orf43 and FOXP4 signaling plays important roles in the development of PCa. However, associations of these genes with PCa in northern Chinese men remain to be detailed. This study aimed to investigate their impact on occurrence and level of malignancy. Methods: All subjects were from Beijing and Tianjin, including 266 cases with prostate cancer and 288 normal individuals as controls. We evaluated associations between clinical covariates (age at diagnosis, prostate specific antigen, Gleason score, tumor stage and aggressive) and 6 candidate PCa risk loci, genotyped by PCR- high resolution melting curve and sequencing methods. Results: Case-control analysis of allelic frequency of PCa associated with PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was associated with reduced risk of prostate cancer (odds ratio (OR) = 0.73, 95% confidence interval (CI) =0.57-0.94, P = 0.013) in northern Chinese men. In addition, subjects with CX (CC+TC) genotypes had a decreased risk for prostrate cancer compared to those carrying the TT homozygote (OR =0.64, 95% CI = 0.45- 0.90, P = 0.008). The TT genotype of 13q22 (rs9600079, T) was associated with tumor stage (P=0.044, OR=2.34, 95% CI=0.94-5.87). Other SNPs were not significantly associated with clinical covariates in prostate cancer (P > 0.05). Conclusions. rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus in northern Chinese men.

Association with Kinetic Characteristics of sperm in Duroc Boar and the Zygote Arrest 1 gene Polymorphism (g.2540T>C) (Zygote arrest 1 유전자 변이(g.2540T>C)와 두록 정액의 운동학적 특성과의 연관성 분석)

  • Lee, Mi Jin;Ko, Jun Ho;Cho, Kyu Ho;Choi, Tae Jeong;Kim, Yong Min;Kim, Young Sin;Jin, Dong Il;Cho, Eun seok;Kim, Nam Hyung
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.19 no.9
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    • pp.116-123
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    • 2018
  • The sperm quality is determined by the kinetic characteristics and acrosome integrity of the sperm. In the previous studies, analysis of semen quality had large errors because those experiments by using microscope had been conducted by people. In recent years, the molecular biological methods have been newly developed to complement the previous techniques. The ZAR1 gene is known to be a gene that affects early embryonic development in vertebrates, but there is no study of the association with semen. In this study, we analyzed the association between the kinetic characteristics and ZAR1 single nucleotide polymorphism (SNP) genotype. To detect the SNPs, we performed sequencing using genomic DNA from the whole bloods of Duroc pigs. We identified an SNP in the ZAR1 gene g.2540T>C. ZAR1 SNP genotypeing in 105 pigs revealed that the major and minor alleles were T and C, respectively. After we analyzed the association between the kinetic characteristics of sperm and the ZAR1 SNP genotype, we found a significant association in MOT (p<0.01), VSL (p<0.05) of the kinetic characteristics in the Duroc boars. It was confirmed that the boars with T allele were lower in MOT and VSL than C allele. Therefore, pigs with C allele are judged to be better at the MOT and VSL of semen. Based on these results, ZAR1 SNP genotyping may be a useful molecular biomarker to improve semen quality by applying molecular breeding technology.

Investigation of Coat Color Candidate Genes in Korean Cattle(Hanwoo) (한우에서 모색관련 유전자 변이에 관한 연구)

  • Do, K.T.;Shin, H.Y.;Lee, J.H.;Kim, N.S.;Park, E.W.;Yoon, D.H.;Kim, K.S.
    • Journal of Animal Science and Technology
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    • v.49 no.6
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    • pp.711-718
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    • 2007
  • Most cattle breeds have a coat color pattern that is characteristic for the breed. Korean cattle(Hanwoo) has a coat color ranging from yellowish brown to dark brown including a red coat color. Variation in the Hanwoo coat color is likely to be the effects of modified genes segregating within the Hanwoo breed. MC1R encoded by the Extension(E) locus was almost fixed with recessive red e allele in the Hanwoo, but other gene(s) might be affecting the variation of the Hanwoo coat color into yellowish to red brown. We have analyzed a segregation of coat color in the F2 families generated from two Hanwoo bulls(yellowish brown) mated to six F1 dams(black) derived from Hanwoo and Holstein crosses. Segregation of coat color in the offspring found a ratio of 1(yellowish brown) : 1(black) and this ratio indicates that a single gene may play a major role for the Hanwoo coat color. We further investigated SNPs in MC1R, ASIP and TYRP1 loci to determine genetic cause of the Hanwoo coat color. Several polymorphisms within ASIP intron 2 and TYRP1 exons were found but not conserved within the Hanwoo population. However, the segregation of the MC1R e allele was completely associated with the Hanwoo coat color. Based on this information, it is clear that the MC1R e allele is mainly responsible for the yellowish red Hanwoo coat color. Further study is warrant to identify possible genetic interaction between MC1R e allele and other coat color related gene(s) for the variation of Hanwoo coat color from yellowish brown to dark brown. (Key words : Hanwoo, Coat color, SNP, MC1R, ASIP, TYRP1)

Association Between the Polymorphism on Intron 5 of the Lipoprotein Lipase Gene and Carcass Traits in Hanwoo (Korean cattle) (한우 Lipoprotein Lipase 유전자 Intron 5번의 Polymorphism과 경제 형질과의 관련성 분석)

  • Lee, H.J.;Lee, S.H.;Cho, Y.M.;Yoon, H.B.;Jeon, B. K.;Oh, S.J.;Kwon, M.S.;Yoon, D.H.
    • Journal of Animal Science and Technology
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    • v.46 no.6
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    • pp.947-956
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    • 2004
  • The primary role of lipoprotein lipase(LPL) is the hydrolysis of triglycerides(TG) from the core of triglyceride-rich lipoproteins such as chylomicrons and very low density lipoproteins in plasma. Fatty acids liberated by LPL on capillary endothelial surfaces are available for tissues as energy sources especially in muscles or for storage in the form of TG in adipose tissues. Therefore, as the candidate gene related to the carcass traits of the beef cattle, we have directly sequenced the exon 5${\sim}$exon 6 region in the bovine LPL gene for discovery of single nucleotide polymorphism(SNP) with 24 unrelated Hanwoo(Korean cattle). Novel eight sequence variants were detected: three loci on exon 5, three on intron 5 and two on exon 6. All SNPs identified were strongly linked each other, and one hundred twenty eight Hanwoo samples were genotyped one SNP on intron 5 using PCR-restriction fragment length polymorphism method by digestion with Hae III restriction enzyme. The allele frequency of the polymorphism was 0.76 and 0.24. The effects of this polymorphism on the breeding values of the carcass weight, loin muscle area, back fat thickness and marbling score were analyzed using least square methods of SAS GLM. The marbling score of BB genotype was significantly higher than those of AA and AB genotypes(P<0.05). This result indicates that this polymorphism may be associated with the variation of marbling score. Further study is warranted to investigate the phenotypic association in Hanwoo.

Construction of Web-Based Database for Anisakis Research (고래회충 연구를 위한 웹기반 데이터베이스 구축)

  • Lee, Yong-Seok;Baek, Moon-Ki;Jo, Yong-Hun;Kang, Se-Won;Lee, Jae-Bong;Han, Yeon-Soo;Cha, Hee-Jae;Yu, Hak-Sun;Ock, Mee-Sun
    • Journal of Life Science
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    • v.20 no.3
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    • pp.411-415
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    • 2010
  • Anisakis simplex is one of the parasitic nematodes, and has a complex life cycle in crustaceans, fish, squid or whale. When people eat under-processed or raw fish, it causes anisakidosis and also plays a critical role in inducing serious allergic reactions in humans. However, no web-based database on A. simplex at the level of DNA or protein has been so far reported. In this context, we constructed a web-based database for Anisakis research. To build up the web-based database for Anisakis research, we proceeded with the following measures: First, sequences of order Ascaridida were downloaded and translated into the multifasta format which was stored as database for stand-alone BLAST. Second, all of the nucleotide and EST sequences were clustered and assembled. And EST sequences were translated into amino acid sequences for Nuclear Localization Signal prediction. In addition, we added the vector, E. coli, and repeat sequences into the database to confirm a potential contamination. The web-based database gave us several advantages. Only data that agrees with the nucleotide sequences directly related with the order Ascaridida can be found and retrieved when searching BLAST. It is also very convenient to confirm contamination when making the cDNA or genomic library from Anisakis. Furthermore, BLAST results on the Anisakis sequence information can be quickly accessed. Taken together, the Web-based database on A. simplex will be valuable in developing species specific PCR markers and in studying SNP in A. simplex-related researches in the future.

Sex Pheromone Trapping of Spodoptera frugiperda (Noctuidae: Lepidoptera) in Korea and the Distribution of Intraspecies-specific Single Nucleotide Polymorphisms in the Cytochrome c Oxidase Subunit 1 (CO1) (성페로몬을 이용한 열대거세미나방 포획과 시토크롬 옥시다제 1(CO1)에서 종내 변이군 특이적 단일염기다형성 분포)

  • Seo, Bo Yoon;Jung, Jin Kyo;Lee, Gwan-Seok;Yang, Chang Yeol;Cho, Jumrae;Kim, Yang Pyo
    • Korean journal of applied entomology
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    • v.59 no.3
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    • pp.217-231
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    • 2020
  • In 2019, the sex pheromones of Spodoptera frugiperda were used to examine moth trapping in cornfields in Gochang, Korea. Four types of traps were prepared, two funnel-types and two delta-types, each baited with 300 or 1000 ㎍ of a two-component (2C) blend of synthetic sex pheromones [100% (Z)-9-tetradecenyl acetate (Z9-14Ac) and 2% (Z)-7-dodecenyl acetate (Z7-12Ac)]. The greatest number of S. frugiperda were captured in the 300 ㎍ funnel-type trap (first catch: August 6). Large numbers of Mythimna loreyi (a non-target) were also caught in the funnel-type traps. Two wing-type traps were baited with 1000 ㎍ of the 2C blend or a four-component (4C) blend [100% (Z)-9-tetradecenyl acetate, 8% (Z)-11-hexadecenyl acetate (Z11-16Ac), 2% (Z)-7-dodecenyl acetate, and 1% (Z)-9-dodecenyl acetate (Z9-12Ac)] and the capture efficiency was assessed. Low numbers of S. frugiperda were captured regardless of the blend, and more M. loreyi were captured using the 4C blend. The two intraspecies groups clustered separately in a phylogenetic tree constructed using partial sequences (1004 bp) of cytochrome c oxidase subunit 1 (CO1). Of the 70 S. frugiperda captured in the pheromone traps, 66 belonged to CO1-RS (CO1 rice-strain) and 4 to CO1-CS (CO1 corn-strain). Twelve consistent single nucleotide polymorphisms (SNPs) were identified in CO1 between the CO1-RS and CO1-CS groups of S. frugiperda. Of the 73 S. frugiperda, 4 had the same SNP pattern as the CO1-CS group (including the corn strain) and 69 had the same SNP pattern as the CO1-RS group (including the rice strain).