• 제목/요약/키워드: Single Nucleotide polymorphisms

검색결과 756건 처리시간 0.031초

Identification of genetic polymorphisms in FABP3 and FABP4 and putative association with back fat thickness in Korean native cattle

  • Cho, Seo-Ae;Park, Tae-Sung;Yoon, Du-Hak;Cheong, Hyun-Sub;Namgoong, Sohg;Park, Byung-Lae;Lee, Hye-Won;Han, Chang-Soo;Kim, Eun-Mi;Cheong, Il-Cheong;Kim, Hee-Bal;Shin, Hyoung-Doo
    • BMB Reports
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    • 제41권1호
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    • pp.29-34
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    • 2008
  • The aim of this study was to determine whether single nucleotide polymorphisms (SNP) in the beef cattle adipocyte fatty-acid binding protein 3 and 4 (FABP3 and FABP4) genes are associated with carcass weight (CW) and back fat thickness (BF) of beef cattle. By direct DNA sequencing in 24 unrelated Korean native cattle, we identified 20 SNPs in FABP3 and FABP4. Among them, 10 polymorphic sites were selected for genotyping in our beef cattle. We performed SNP, haplotype and linkage disequilibrium studies on 419 Korean native cattle with the 10 SNPs in the FABP genes. Statistical analysis revealed that 220A>G (I74V) and 348+303T>C polymorphisms in FABP4 showed putative associations with BF traits (P=0.02 and 0.01, respectively). Our findings suggest that the polymorphisms in FABP4 may play a role in determining one of the important genetic factors that influence BF in beef cattle.

Association of polymorphisms in Pit-1 gene with growth and feed efficiency in meat-type chickens

  • Jin, Sihua;He, Tingting;Yang, Lei;Tong, Yucui;Chen, Xingyong;Geng, Zhaoyu
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권11호
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    • pp.1685-1690
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    • 2018
  • Objective: The pituitary specific transcription factor-1 (Pit-1) gene is responsible for pituitary development and growth hormone expression and is regarded as a pivotal candidate gene for growth and production in chickens. Therefore, the aim of this study was to investigate the association of Pit-1 polymorphisms with growth and feed efficiency traits in yellow meat-type chickens. Methods: In the present study, five single nucleotide polymorphisms (SNPs) of Pit-1 were selected and genotyped by high-throughput matrix-assisted laser desorption-ionization time-of-flight mass spectrometry in 724 meat-type chickens. Results: Association analysis showed that rs13687126 of Pit-1 was strongly associated with body weight gain (BWG) and feed intake (FI) (p<0.05), and that rs13687128 was significantly correlated with body weight at 70 days of age (BW70), BWG and feed conversion ratio (FCR) (p<0.05). SNP rs13905622 was strongly related to BW70 and FCR (p<0.05). Furthermore, birds with the GG genotype of rs13687126 had larger BWG and FI than those with the AG genotype (p<0.05). Individuals with the TT genotype of rs13687128 were significantly higher BW70 and BWG than those of the CT and CC genotype, while FCR was just the opposite (p<0.05). For rs13905622, the AA chickens showed strongly larger BW70 and lower FCR compared with the AT and TT chickens (p<0.05). Additionally, an ACA haplotype based on rs13687126, rs13687128, and rs13905622 had significant effects on BW70 and FCR (p<0.05). Conclusion: Our studies thus provide crucial evidence for the relationship between polymorphisms of Pit-1 and growth and feed efficiency traits which may be useful for meat-type chicken breeding programs.

Association of a genetic polymorphism of IL1RN with risk of acute pancreatitis in a Korean ethnic group

  • Park, Jin Woo;Choi, Ja Sung;Han, Ki Joon;Lee, Sang Heun;Kim, Eui Joo;Cho, Jae Hee
    • The Korean journal of internal medicine
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    • 제33권6호
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    • pp.1103-1110
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    • 2018
  • Background/Aims: Several epidemiological studies have validated the association of interleukin gene polymorphisms with acute pancreatitis (AP) in different populations. However, there have been few studies in Asian ethnic groups. We aimed to investigate the relationships between inflammatory cytokine polymorphisms and AP as pilot research in a Korean ethnic group. Methods: Patients who had been diagnosed with AP were prospectively enrolled. DNA was extracted from whole blood, and DNA sequencing was subsequently performed. Single-nucleotide polymorphisms (SNPs) of the interleukin $1{\beta}$ (IL1B), interleukin 1 receptor antagonist (IL1RN), and tumor necrosis factor ${\alpha}$ (TNFA) genes of patients with AP were compared to those of normal controls. Results: Between January 2011 and January 2013, a total of 65 subjects were enrolled (40 patients with AP vs. 25 healthy controls). One intronic SNP (IL1RN -1129T>C, rs4251961) was significantly associated with the risk of AP (odds ratio, 0.304; 95% confidence interval, 0.095 to 0.967; p = 0.043). However, in our study, AP was not found to be associated with polymorphisms in the promoter regions of inflammatory cytokine genes, including IL1B (-118C>T, c47+242C>T, +3954C/T, and -598T>C) and TNFA (-1211T>C, -1043C>A, -1037C>T, -488G>A, and -418G>A). Conclusions: IL1RN -1129T>C (rs4251961) genotypes might be associated with a significant increase of AP risk in a Korean ethnic group.

구안와사 환자에서의 Interleukin 10 단일염기다형성 연구-Pyrosequencing (A Study on Single Nucleotide Polymorphisms of Interleukin 10 in Bell's Palsy Patients by Pyrosequencing)

  • 서정철;임성철;정태영;신동훈;김민정;한상원
    • Journal of Acupuncture Research
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    • 제21권2호
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    • pp.31-40
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    • 2004
  • 목적 : 본 연구는 Interleukin 10 (IL10) 유전자 다형성이 구안와사의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 내원한 구안와사 환자 62명과 종합건진센터에 내원한 구안와사 기왕력이 없는 건강인 104명을 대상으로 하였다 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequendng 과정을 통하여 IL10의 유전형이 자동으로 판정되었다. 결과 : A/A, A/C의 두가지 유전자형이 검출되었으며 구안와사군과 대조군 사이에 유의성 있는 차이가 발견되지는 않았다(p=0.052). 또한 개별 allele 빈도에 있어서도 구안와사군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.064). 결론 : 이상의 결과를 통하여 IL10 유전자 다형성은 구안와사의 발병과는 관련성이 없는 것으로 사려된다. 그러나 더 많은 구안와사 환자를 대상으로 IL10 유전자와의 연관성에 대한 후속 연구가 필요하다고 하겠다.

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Efficient Strategy to Identify Gene-Gene Interactions and Its Application to Type 2 Diabetes

  • Li, Donghe;Wo, Sungho
    • Genomics & Informatics
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    • 제14권4호
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    • pp.160-165
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    • 2016
  • Over the past decade, the detection of gene-gene interactions has become more and more popular in the field of genome-wide association studies (GWASs). The goal of the GWAS is to identify genetic susceptibility to complex diseases by assaying and analyzing hundreds of thousands of single-nucleotide polymorphisms. However, such tests are computationally demanding and methodologically challenging. Recently, a simple but powerful method, named "BOolean Operation-based Screening and Testing" (BOOST), was proposed for genome-wide gene-gene interaction analyses. BOOST was designed with a Boolean representation of genotype data and is approximately equivalent to the log-linear model. It is extremely fast, and genome-wide gene-gene interaction analyses can be completed within a few hours. However, BOOST can not adjust for covariate effects, and its type-1 error control is not correct. Thus, we considered two-step approaches for gene-gene interaction analyses. First, we selected gene-gene interactions with BOOST and applied logistic regression with covariate adjustments to select gene-gene interactions. We applied the two-step approach to type 2 diabetes (T2D) in the Korea Association Resource (KARE) cohort and identified some promising pairs of single-nucleotide polymorphisms associated with T2D.