• Title/Summary/Keyword: Candidate gene association study

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Genetic diversity of Indonesian cattle breeds based on microsatellite markers

  • Agung, Paskah Partogi;Saputra, Ferdy;Zein, Moch Syamsul Arifin;Wulandari, Ari Sulistyo;Putra, Widya Pintaka Bayu;Said, Syahruddin;Jakaria, Jakaria
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.4
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    • pp.467-476
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    • 2019
  • Objective: This research was conducted to study the genetic diversity in several Indonesian cattle breeds using microsatellite markers to classify the Indonesian cattle breeds. Methods: A total of 229 DNA samples from of 10 cattle breeds were used in this study. The polymerase chain reaction process was conducted using 12 labeled primers. The size of allele was generated using the multiplex DNA fragment analysis. The POPGEN and CERVUS programs were used to obtain the observed number of alleles, effective number of alleles, observed heterozygosity value, expected heterozygosity value, allele frequency, genetic differentiation, the global heterozygote deficit among breeds, and the heterozygote deficit within the breed, gene flow, Hardy-Weinberg equilibrium, and polymorphism information content values. The MEGA program was used to generate a dendrogram that illustrates the relationship among cattle population. Bayesian clustering assignments were analyzed using STRUCTURE program. The GENETIX program was used to perform the correspondence factorial analysis (CFA). The GENALEX program was used to perform the principal coordinates analysis (PCoA) and analysis of molecular variance. The principal component analysis (PCA) was performed using adegenet package of R program. Results: A total of 862 alleles were detected in this study. The INRA23 allele 205 is a specific allele candidate for the Sumba Ongole cattle, while the allele 219 is a specific allele candidate for Ongole Grade. This study revealed a very close genetic relationship between the Ongole Grade and Sumba Ongole cattle and between the Madura and Pasundan cattle. The results from the CFA, PCoA, and PCA analysis in this study provide scientific evidence regarding the genetic relationship between Banteng and Bali cattle. According to the genetic relationship, the Pesisir cattle were classified as Bos indicus cattle. Conclusion: All identified alleles in this study were able to classify the cattle population into three clusters i.e. Bos taurus cluster (Simmental Purebred, Simmental Crossbred, and Holstein Friesian cattle); Bos indicus cluster (Sumba Ongole, Ongole Grade, Madura, Pasundan, and Pesisir cattle); and Bos javanicus cluster (Banteng and Bali cattle).

Association between Tardive Dyskinesia and T103C Polymorphisms of 5-$HT_{2A}$ Receptor Gene (지연성 운동장애와 5-$HT_{2A}$ 수용체 유전자 T103C 다형성과의 관계)

  • Hahn, Sang Woo;Shin, Jeong Won;Choi, Tae Youn;Woo, Sung Il;Jung, Han Yong;Jung, Hee Yeoun;Han, Sun Ho
    • Korean Journal of Biological Psychiatry
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    • v.10 no.2
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    • pp.133-140
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    • 2003
  • Objective:Some candidate gene polymorphisms were reported to be associated with tardive dyskinesia (TD). The aim of this study was to investigate the association of the 5-$HT_{2A}$ receptor gene polymorphisms with TD in Korean schizophrenic subjects. Method:Subjects were of 59 schizophrenic patients with TD and 60 schizophrenic patients without TD for studying of 5-$HT_{2A}$ receptor gene polymorphisms. TD was evaluated using the Abnormal Involuntary Movement Scale(AIMS). Genomic DNA was amplified by PCR and digestion with MspI and BsmI. Result:There were no statistically significant differences in the demographic variables, such as age, male to female percentage, duration of illnesses and duration of antipsychotic drug exposure between the TD group and control group. 1) T102C polymorphisms and TD Comparing the TD group and control group, the 102T/C allele was associated with a significantly increased risk for TD (${\chi}^2$=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and T102C genotype. There were statistically significant differences in the three AIMS categories(${\chi}^2$=6.835, df=2, p=0.033). Conclusion:These result suggest 102T/C genotypes of the 5-$HT_{2A}$ receptor gene are related to the development of TD. The 102T/C genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-$HT_{2A}$ receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia.

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Association of XRCC1 Gene Polymorphisms with Breast Cancer Susceptibility in Saudi Patients

  • Al Mutairi, Fatima Masoud;Alanazi, Mohammed;Shalaby, Manal;Alabdulkarim, Huda A.;Pathan, Akbar Ali Khan;Parine, Narasimha Reddy
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3809-3813
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    • 2013
  • Background: X-ray repair cross-complementing group 1 (XRCC1) plays a key role in the base excision repair pathway, as a scaffold protein that brings together proteins of the DNA repair complex. XRCC1 is reported to be a candidate influence on cancer risk. The aim of our present study was to assess the association of rs1799782 (Arg194Trp) and rs25487 (Arg399Gln) XRCC1 gene polymorphisms with breast cancer in the Saudi population. Materials and Methods: The two SNP's were analyzed in breast cancer patients and healthy control subjects. Genotypes were determined by TaqMan SNP genotype analysis technique and data were analyzed using Chi-square or t test and logistic regression analysis by SPSS16.0 software. Results and Conclusions: Results showed that rs1799782 significantly increased susceptibility to breast cancer with Arg/Trp, Arg/Trp+Trp/Trp genotypes and at Trp allele overall study. It also increased risk of breast cancer in older age patients (above 48) and with the ER positive category. XRCC1rs25487 (Arg399Gln) did not showed any significant association. In conclusion the XRCC1rs1799782 polymorphism may be involved in the etiology of breast cancer in the Saudi population. Confirmation of our findings in larger populations of different ethnicities is warranted.

Adoptive Transfer of Colon Cancer Derived Peptide-specific CD8+ T Cells in HHD Mice (HHD Mice를 이용한 대장암세포유래 펩타이드 특이적 CD8+ T 세포의 입양전이)

  • Jung, Hun-Soon;Ahn, In-Sook;Do, Hyung-Ki;Lemonnier, Francois A.;Tirosh, Boaz;Tzehoval, Esther;Vadai, Ezra;Eisenbach, Lea;Do, Myoung-Sool
    • IMMUNE NETWORK
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    • v.4 no.1
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    • pp.31-37
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    • 2004
  • Background: 1-8D gene is a member of human 1-8 interferon inducible gene family and is shown to be overexpressed in fresh colon cancer tissues. Three peptides 1-6, 3-5 and 3-7 derived from 1-8D gene were shown to have immunogenicity against colon cancer. Methods: To study tumor immunotherapy of these peptides we established an adoptive transfer model. $D^{b-/-}{\times}{\beta}2$ microglobulin (${\beta}2m$) null mice transgenic for a chimeric HLA-A2.1/$D^b-{\beta}2m$ single chain (HHD mice) were immunized with irradiated peptide-loaded RMA-S/HHD/B7.1 transfectants. Spleens were removed after last immunization, and splenocytes were re-stimulated in vitro. Lymphocytes from vaccinated HHD mice were transferred together with IL-2 to the tumor bearing nude mice that were challenged S.C. with the HCT/HHD/B7 colon carcinoma cell line that was found to grow in these mice. Results: Peptide 3-5 was found to be highly effective in CTL activity. Adoptively transferred anti-peptide 3-5 cytolytic T lymphocytes caused significant retardation in tumor growth. Conclusion: This study shows that peptide 3-5 can be the most effective candidate for the vaccine of adoptive immunotherapy against colon cancer.

Detection of copy number variation and selection signatures on the X chromosome in Chinese indigenous sheep with different types of tail

  • Zhu, Caiye;Li, Mingna;Qin, Shizhen;Zhao, Fuping;Fang, Suli
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.9
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    • pp.1378-1386
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    • 2020
  • Objective: Chinese indigenous sheep breeds can be classified into the following three categories by their tail morphology: fat-tailed, fat-rumped and thin-tailed sheep. The typical sheep breeds corresponding to fat-tailed, fat-rumped, and thin-tailed sheep are large-tailed Han, Altay, and Tibetan sheep, respectively. Detection of copy number variation (CNV) and selection signatures provides information on the genetic mechanisms underlying the phenotypic differences of the different sheep types. Methods: In this study, PennCNV software and F-statistics (FST) were implemented to detect CNV and selection signatures, respectively, on the X chromosome in three Chinese indigenous sheep breeds using ovine high-density 600K single nucleotide polymorphism arrays. Results: In large-tailed Han, Altay, and Tibetan sheep, respectively, a total of six, four and 22 CNV regions (CNVRs) with lengths of 1.23, 0.93, and 7.02 Mb were identified on the X chromosome. In addition, 49, 34, and 55 candidate selection regions with respective lengths of 27.49, 16.47, and 25.42 Mb were identified in large-tailed Han, Altay, and Tibetan sheep, respectively. The bioinformatics analysis results indicated several genes in these regions were associated with fat, including dehydrogenase/reductase X-linked, calcium voltage-gated channel subunit alpha1 F, and patatin like phospholipase domain containing 4. In addition, three other genes were identified from this analysis: the family with sequence similarity 58 member A gene was associated with energy metabolism, the serine/arginine-rich protein specific kinase 3 gene was associated with skeletal muscle development, and the interleukin 2 receptor subunit gamma gene was associated with the immune system. Conclusion: The results of this study indicated CNVRs and selection regions on the X chromosome of Chinese indigenous sheep contained several genes associated with various heritable traits.

Effect of Seaweed Extract on Hair Growth Promotion in Experimental Study of C57BL/6 Mice (해조류 추출물의 발모효과에 관한 C57BL/6의 쥐 실험연구)

  • Ha, Won Ho;Park, Dae Hwan
    • Archives of Craniofacial Surgery
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    • v.14 no.1
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    • pp.1-10
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    • 2013
  • Background: Recently, substances from seaweeds have been widely used in hair growth solutions, and have been proven to be effective. Seaweeds have been documented to possess hair growth activity; however, no report on the effect of seaweed on hair regeneration has been issued to date. In this study, we investigated which exact substance of hair tonic made by JW-bio and our institute shows effects on hair growth by studying the mechanisms of candidate substances. Methods: The study was conducted to investigate the hair restoring effect of domestic natural substances; we categorized the candidate substances as seaweed, cereal, and herbal medicine. Five experimental groups were included in the study as follows: a saline group, a 50% ethanol group, seaweed group, a cereal group, and a herbal medicine group. Results: Three extracts (seaweed, cereal, and herbal medicine) were administered to C57BL/6 mice for two weeks after depilation. Depilated areas were found to be completely covered with fully grown hair, and the hair re-growth score was highest in the seaweed group. Using a hair analysis system, hair characteristics were measured in all groups on days 10 and 14 after depilation. The width and length of hair follicles were largest in the seaweed group. Groups treated with seaweed showed significantly increased gene expression of insulin-like growth factor-1. Groups treated with all the three extracts showed decreased expression of transforming growth factor-${\beta}1$. Conclusion: Findings from our study suggest that seaweeds possess hair-growth effects and may be useful for the treatment of alopecia in the future.

Investigation of Single Nucleotide Polymorphisms in Porcine Candidate Gene for Growth and Meat Quality Traits in the Berkshire Breed (버크셔 품종의 돼지 성장과 육질관련 후보유전자의 단일염기 다형성에 관한 연구)

  • Kim, Sang-Wook;Jung, Ji-Hye;Do, Kyung-Tag;Kim, Kwan-Suk;Do, Chang-Hee;Park, Jun-Kyu;Joo, Young-Kuk;Kim, Tae-Suk;Choi, Bong-Hwan;Kim, Tae-Hun;Song, Ki-Duk;Cho, Byung-Wook
    • Journal of Life Science
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    • v.17 no.12
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    • pp.1622-1626
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    • 2007
  • This study was conducted to identify useful single nucleotide polymorphisms (SNPs) and determine their association with economically important traits in pig population. Four candidate gene analyses have identified important chromosomal regions and major genes associcated whit economic traits of the pig. For application of the chromosomal information to the pig industry using DNA technology, SNP markers were developed by comparative re-sequencing of polymerase chain reaction (PCR) products of 4 candidate genes (CSF2, IL4, MYOD, RIP140). PCR restriction fragment length polymorphism (PCR-RFLP) assays were developed for these 4 SNPs and used to genotype Berkshire pig populations in Korea.

Association and Polymorphism of Porcine Candidate Genes with Breeding Values in Litter Size of Large Yorkshire and Landrace Inbred Lines (대요크샤 및 랜드레이스종 근교계통돈의 총산자수와 후보유전자에 대한 다형성과 육종가 간의 연관성 분석)

  • Kim, Myung-Jick;Cho, Kyu-Ho;Kim, Doo-Wan;So, Kyung-Min;Choi, Bong-Hwan;Kim, In-Cheul
    • Reproductive and Developmental Biology
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    • v.35 no.3
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    • pp.247-250
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    • 2011
  • The objective of this study was to find out candidate genes associated with litter size trait in pigs of inbred Large Yorkshire and Landrace populations. 86 sows were screened for candidate genotypes along with litter size data recordings. Association of litter size with genotypes of candidate genes were investigated to verify the usefulness of each gene's genotypes as markers for the trait. For the lines of Large Yorkshire, PRLR3 and RBP4 genes were genotyped. Frequency distribution of PRLR3 with genotypes AA, AB and BB were each 0.14, 0.44 and 0.42. And the average litter size by PRLR3 genotypes were 8.83, 10.81 and 10.70 piglets per litter, the average estimated breeding values of which were 0.243, 0.332, 0.365, respectively for AA, AB and BB genotypes. Genotypic frequencies of RBP4 by AA, AB and BB genotypes were 0.10, 0.44 and 0.46. The average litter size by genotypes of RBP4 were 10.40, 10.57 and 10.35 piglets per litter and their corresponding average estimated breeding values were 0.451, 0.353 and 0.261, respectively for genotypes AA, AB and BB. Significance in differences among genotypes were not observed, but B allele of RBP4 seems to be associated with litter size. In Landrace lines, frequencies of RBP4 genotypes, AA, AB and BB were 0.29, 0.55 and 0.16. And the average litter size of these genotypes were 10.50, 11.08 and 11.00 piglets per litter. The corresponding averages of estimated breeding values of each genotypes were 0.172, 0.135 and 0.104. In Landrace lines, allele A was more likely to be associated with litter size, even if differences among average litter size were not significant. We conclude that genotyping of two candidate genes is a helpful tool to identify genetic potentials of litter size in pigs.

Identification and Association of SNPs in TBC1D1 Gene with Growth Traits in Two Rabbit Breeds

  • Yang, Zhi-Juan;Fu, Lu;Zhang, Gong-Wei;Yang, Yu;Chen, Shi-Yi;Wang, Jie;Lai, Song-Jia
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.11
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    • pp.1529-1535
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    • 2013
  • The TBC1D1 plays a key role in body energy homeostasis by regulating the insulin-stimulated glucose uptake in skeletal muscle. The present study aimed to identify the association between genetic polymorphisms of TBC1D1 and body weight (BW) in rabbits. Among the total of 12 SNPs detected in all 20 exons, only one SNP was non-synonymous (c.214G>A. p.G72R) located in exon 1. c.214G>A was subsequently genotyped among 491 individuals from two rabbit breeds by the high-resolution melting method. Allele A was the predominant allele with frequencies of 0.7780 and 0.6678 in European white rabbit (EWR, n = 205) and New Zealand White rabbit (NZW, n = 286), respectively. The moderate polymorphism information content (0.250.05). Our results implied that the c.214G>A of TBC1D1 gene might be one of the candidate loci affecting the trait of 35 d BW in the rabbit.

Leptin Polymorphisms Associated with Carcass Traits of Meat in Korean Cattle

  • Cheong, Hyun Sub;Yoon, Du-Hak;Kim, Lyoung Hyo;Park, Byung Lae;Chung, Eui Ryong;Lee, Han Ju;Cheong, Il-Cheong;Oh, Sung-Jong;Shin, Hyoung Doo
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.11
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    • pp.1529-1535
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    • 2006
  • Leptin has been investigated as a candidate gene for fat characteristics in beef cattle. Previously, we have reported 57 sequence variants discovered in Korean cattle (Bos Taurus coreanae). In this study, we examined the association between polymorphisms of leptin and carcass traits (cold carcass weight (CWT) and marbling score (Marb)) in Korean cattle. Among 57 polymorphisms, 11 common polymorphic sites were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one single nucleotide polymorphism in coding exon (c.+411T>C (A137A)) showed a significant association with the yield trait, CWT. The C-bearing genotypes (CC or CT) of c.+411T>C (A137A) showed the higher CWT (p = 0.006). c.+150C>G (S50S) also showed a significant association with the quality trait, Marb (p = 0.01). Our findings suggest that polymorphisms in leptin might be one of the important genetic factors that influence carcass yield and quality in beef cattle, especially in CWT and Marb.