• Title/Summary/Keyword: genetic association studies

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Multiple Genes Related to Muscle Identified through a Joint Analysis of a Two-stage Genome-wide Association Study for Racing Performance of 1,156 Thoroughbreds

  • Shin, Dong-Hyun;Lee, Jin Woo;Park, Jong-Eun;Choi, Ik-Young;Oh, Hee-Seok;Kim, Hyeon Jeong;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.6
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    • pp.771-781
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    • 2015
  • Thoroughbred, a relatively recent horse breed, is best known for its use in horse racing. Although myostatin (MSTN) variants have been reported to be highly associated with horse racing performance, the trait is more likely to be polygenic in nature. The purpose of this study was to identify genetic variants strongly associated with racing performance by using estimated breeding value (EBV) for race time as a phenotype. We conducted a two-stage genome-wide association study to search for genetic variants associated with the EBV. In the first stage of genome-wide association study, a relatively large number of markers (~54,000 single-nucleotide polymorphisms, SNPs) were evaluated in a small number of samples (240 horses). In the second stage, a relatively small number of markers identified to have large effects (170 SNPs) were evaluated in a much larger number of samples (1,156 horses). We also validated the SNPs related to MSTN known to have large effects on racing performance and found significant associations in the stage two analysis, but not in stage one. We identified 28 significant SNPs related to 17 genes. Among these, six genes have a function related to myogenesis and five genes are involved in muscle maintenance. To our knowledge, these genes are newly reported for the genetic association with racing performance of Thoroughbreds. It complements a recent horse genome-wide association studies of racing performance that identified other SNPs and genes as the most significant variants. These results will help to expand our knowledge of the polygenic nature of racing performance in Thoroughbreds.

Association of the PTEN IVS4 (rs3830675) Gene Polymorphism with Reduced Risk of Cancer: Evidence from a Meta-analysis

  • Mandal, Raju K.;Akhter, Naseem;Irshad, Mohammad;Panda, Aditya K.;Ali, Arif;Haque, Shafiul
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.3
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    • pp.897-902
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    • 2015
  • PTEN (phosphatase and tensin homologue), as a tumor suppressor gene, plays a significant role in regulating cell growth, proliferation, and apoptosis. Results from published studies for association between the PTEN IVS4 I/D (rs3830675) polymorphism and cancer risk are inconsistent and inconclusive. We therefore conducted a meta-analysis to evaluate the potential association between PTEN IVS4 I/D polymorphism and risk of cancer in detail. We searched PubMed (Medline) and EMBASE web databases to cover all relevant studies published until December 2013. The meta-analysis was carried out and pooled odds ratios (ORs) and 95% confidence intervals (95%CIs) were used to appraise the strength of association. A total of 1,993 confirmed cancer cases and 3,200 controls were included from six eligible case-control studies. Results from overall pooled analysis suggested a significant effect of the PTEN IVS4 I/D polymorphism and cancer risk in all genetic models, i.e., allele (I vs D: OR=0.743, 95%CI=0.648 to 0.852, p=0.001), homozygous (II vs DD: OR=0.673, 95%CI=0.555 to 0.816, p=0.001), heterozygous (ID vs DD: OR=0.641, 95%CI=0.489 to 0.840, p=0.001), dominant (II+ID vs DD: OR=0.626, 95%CI=0.489 to 0.802, p=0.001) and recessive (II vs DD+ID: OR=0.749, 95%CI=0.631 to 0.889, p=0.001). Significant publication bias was detected during the analysis. The present meta-analysis suggests that the PTEN IVS4 I/D polymorphism is significantly associated with reduced risk of cancer. However, future larger studies with other groups of populations are warranted to clarify this association.

GENETICAL STUDIES ON NATIVE CHICKENS IN INDONESIA

  • Yamamoto, Y.;Namikawa, T.;Okada, I.;Nishibori, M.;Mansjoer, S.S.;Martojo, H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.9 no.4
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    • pp.405-410
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    • 1996
  • Phylogenetic analyses were carried out using four Indonesian native chicken breeds; Kampung, Bangkok, Pelung and Kedu. Gene frequencies of four blood group (A, B, D and E) and eight electrophoretic loci (akp, Akp-2, Es-1, Amy-1, Alb, Tf, Pas and Pa-1) were examined. Geographical and breed specific trends in the gene frequencies were not found in the local population of Kampung breed or in four native breeds. The values of average heterozygosity were estimated as 0.35-0.45. Genetic distances among the local populations of Kampung breed and other native breeds were comparatively small. In a cluster analysis, the Bangkok breed and Kampung E population showed distance from another cluster. The coefficient of gene differentiation for local populations of Kampung breed was estimated as 0.099.

Establishment and Identification of a Debao Pony Ear Marginal Tissue Fibroblast Cell Line

  • Zhou, X.M.;Ma, Y.H.;Guan, W.J.;Zhao, D.M.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.10
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    • pp.1338-1343
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    • 2004
  • The Debao pony ear marginal tissue fibroblast cell line (NDPEM 2/2) was uccessfully established using either primary explant technique or collagenase technique. The characterizations of the cell line were identified as following: the cells were adherent and of density limitation; population doubling time (PDT) of cells made with the two techniques were 35.9 h and 48 h, respectively; chromosome analysis showed that the frequency of cell chromosome number to be 2n=64 was 91.3%-92.8%. Confirmed by isoenzyme analysis, this cell line had no cross- contamination. Tests for microbial contamination from bacteria, fungi, virus or mycoplasma were negative. This newly established cell line meets all the standard quality controls of ATCC. It will provide a precious genetic resource for the conservation of the Debao pony breed, as well as effective experimental material for genetic studies on Debao ponies.

Genetic Variation and Correlation Studies of Some Carcass Traits in Goats

  • Das, S.;Husain, S.S.;Hoque, M.A.;Amin, M.R.
    • Asian-Australasian Journal of Animal Sciences
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    • v.14 no.7
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    • pp.905-909
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    • 2001
  • Three groups of wethers viz. Jamunapari ♂$\times$Black Bengal ♀ (JBB), Selected Black Bengal ♂$\times$Selected Black Bengal ♀ (SBB) and Random Black Bengal ♂$\times$Random Black Bengal ♀ (RBB) of 1 year old were evaluated for pre-slaughter traits and carcass characteristics. The correlations between pre-slaughter traits and carcass traits were computed. It was found that the preslaughter weights of JBB and SBB were almost similar in yielding hot and chilled carcass as well as dressing percentage (DP). RBB wethers were lighter (p<0.05) than JBB and SBB in pre- and post-slaughter weights and also inferior (p<0.05) in DP. SBB wethers were found to produce more visceral fat compared to JBB and RBB. Other variety meats appeared erratic in yield.l. Correlations were compared by Z statistic among three genetic groups and the value of Z did not differ (p>0.05) between groups.

Impact of Gender Differences in DNA on Consumer Buying Behavior

  • Kim, Young-Ei
    • Journal of Distribution Science
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    • v.14 no.2
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    • pp.33-39
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    • 2016
  • Purpose The purpose of this study is to investigate the impact of gender differences in DNA on consumer buying behavior both online and offline and other buying channels to find out effective sales promotion strategies of enterprises. Research design, data, and methodology - This study investigated the relation between chromosome and DNA, DNA and gene, and gene and human behavior of gender. The study shows generic characteristics have influence upon consumers' buying behavior and inclination, and examined the effects of genetic characteristics depending upon the difference of gender DNA upon consumers' buying behavior. Results - Precedent studies on genetics and ethology showed close relations between chromosome and DNA, DNA and gene, and gene and buying behavior of the gene. 'Hunting and protection', one of the genetic characteristics in men's DNA, had great influence upon the consumers' different buying behavior. Conclusion - Gender DNA difference in genetics and ethology disclosed fundamental reasons for the difference in buying behavior and inclination of men and women. It gives implications that marketing strategies of advertising and sales promotion should be made in different ways depending upon men and women.

Current Status of Genomic Epidemiology Reseach (유전체 역학연구의 동향)

  • Lee, Kyoung-Mu;Kang, Dae-Hee
    • Journal of Preventive Medicine and Public Health
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    • v.36 no.3
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    • pp.213-222
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    • 2003
  • Genomic epidemiology is defined as 'an evoking field of inquiring that uses the systematic application of epidemiologic methods are approaches in population-based studies of the impact of human genetic variation on health and disease (Khoury, 1998)'. Most human diseases are caused by the intricate interaction among environmental exposures and genetic susceptibility factors. Susceptibility genes involved in disease pathogenesis are categorized into two groups: high penetrance genes (i.e., BRAC1, RB, etc.) and lour penetranoe genes (i.e., GSTs, Cyps, XRCC1, ets.), and low penetrance susceptibility genes has the higher priority for epidemiological research due to high population attributable risk. In this paper, the summarized results of the association study between single nucleotide polymorphisms (SNPs) and breast cancer in Korea were introduced and the international trends of genomic epidemiology research were reviewed with an emphasis on internee-based case-control and cohort consortium.

Aesthetic Facial Correction of Cleidocranial Dysplasia

  • Hwang, So-Min;Park, Beom;Hwang, Min-Kyu;Kim, Min-Wook;Lee, Jong-Seo
    • Archives of Craniofacial Surgery
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    • v.17 no.2
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    • pp.82-85
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    • 2016
  • We report two cases of cleidocranial dysplasia, which was managed without significant craniofacial osteotomy. A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. The fact that they have an identically deformed face implied a genetic basis. In both patients, radiologic evaluation revealed the underdeveloped maxilla, persistent fontanelle opening, and cleidal aplasia. Clinical findings and radiologic studies were consistent with the diagnosis of cleidocranial dysplasia. Both patients underwent forehead plasty via bicoronal approach, augmentation rhinoplasty using tip plasty, and epicanthoplasty. In addition, the mother underwent malar augmentation using Medpor implantation and reduction genioplasty. The patients did not experience any postoperative complication and remained satisfied with the operation at 6-year follow-up.

Postmortem skeletal muscle metabolism of farm animals approached with metabolomics

  • Susumu Muroya
    • Animal Bioscience
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    • v.36 no.2_spc
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    • pp.374-384
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    • 2023
  • Skeletal muscle metabolism regulates homeostatic balance in animals. The metabolic impact persists even after farm animal skeletal muscle is converted to edible meat through postmortem rigor mortis and aging. Muscle metabolites resulting from animal growth and postmortem storage have a significant impact on meat quality, including flavor and color. Metabolomics studies of postmortem muscle aging have identified metabolisms that contain signatures inherent to muscle properties and the altered metabolites by physiological adaptation, with glycolysis as the pivotal metabolism in postmortem aging. Metabolomics has also played a role in mining relevant postmortem metabolisms and pathways, such as the citrate cycle and mitochondrial metabolism. This leads to a deeper understanding of the mechanisms underlying the generation of key compounds that are associated with meat quality. Genetic background, feeding strategy, and muscle type primarily determine skeletal muscle properties in live animals and affect post-mortem muscle metabolism. With comprehensive metabolite detection, metabolomics is also beneficial for exploring biomarker candidates that could be useful to monitor meat production and predict the quality traits. The present review focuses on advances in farm animal muscle metabolomics, especially postmortem muscle metabolism associated with genetic factors and muscle type.

Association between Arg16Gly Mutation in the ${\beta}_2$-Adrenergic Receptor Gene and Hypertension in the Korean Population

  • Bae, Joon-Seol;Kang, Byung-Yong;Kim, Ki-Tae;Shin, Jung-Hee;Lee, Chung-Choo
    • Environmental Mutagens and Carcinogens
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    • v.21 no.2
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    • pp.95-98
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    • 2001
  • $\beta$$_2$-Adrenergic receptors($\beta$$_2$-AR) contribute to cardiovascular regulation by influencing several functions and a several studies suggest that a decreased function of the $\beta$$_2$-AR may be involved in essential hypertension. We investigated the Arg16Gly mutation of $\beta$$_2$-AR gene, which show enhanced agonist-promoted downregulation of the receptor and yielded different results in terms of association with essential hypertension. We studied the relationship between genetic variation in the $\beta$$_2$-adrenergic receptor gene and hypertension in a Korean population using Nde I restriction fragment length polymorphism (RFLP) analysis. There were significant differences in allele and genotype frequencies between essential hypertensive and normotensive group (Odds ratio(CI) = 1.71 (1.09-2.70)). Therefore, our result suggests that the Nde I RELP of the $\beta$$_2$-adrenergic receptor gene may be useful as a genetic marker in hypertension diagnostics in Korean population.

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