• Title/Summary/Keyword: genetic association studies

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The Case-Control Studies Between The Single Nucleotide Polymorphisms of the Human SA and MTHFR Gene and Hypertension in Korean Population

  • Kang, Byung-Yong;Bae, Joon-Seol;Kim, Ki-Tae;Lee, Kang-Oh;Kang, Chin-Yang;Chung, Ki-Wa;Oh, Sang-Duk
    • Environmental Mutagens and Carcinogens
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    • v.22 no.3
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    • pp.157-163
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    • 2002
  • The role of the kidney in initiating hypertension has been much debated. The SA gene is expressed in the kidney and is association with hypertension in man and in experimental animal models. Also, increased plasma concentrations of homocysteine have been found in patients with coronary artery disease (CAD) and hypertension. The genetic variation of methlene tetrahydrofolate reductase (MTHFR) gene is related to its enzyme activity and to the plasma homocysteine concentration. In view of the effect of SA and MTHFR as risk factor for cardiovascular diseases, we investigated the Pst I RFLP of the SA gene and C667T mutation of the MTHFR gene in the Korean patients with hypertension. There were no significant differences in the allele and genotype frequencies of these polymorphisms between normotensive and hypertensive subjects. Therefore, our results do not support a possible role of these genes on hypertension in Korean population.

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A Safety Evaluation of Genetically Modified Feedstuffs for Livestock Production; the Fate of Transgenic DNA and Proteins

  • Beever, D.E.;Glenn, K.;Phipps, R.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.16 no.5
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    • pp.764-772
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    • 2003
  • Two genetic constructs used to confer improved agronomic characteristics, namely herbicide tolerance (HT) in maize and soyabean and insect resistance (Bt) in maize, are considered in respect of feeding to farm livestock, animal performance and the nutritional value and safety of animal products. A review of nucleic acid (DNA) and protein digestion in farm livestock concludes that the frequency of intact transgenic DNA and proteins of GM and non-GM crops being absorbed is minimal/non existent, although there is some evidence of the presence of short fragments of rubisco DNA of non-GM soya in animal tissues. It has been established that feed processing (especially heat) prior to feeding causes significant disruption of plant DNA. Studies with ruminant and non-ruminant farm livestock offered GM feeds demonstrated that animal performance and product composition are unaffected and that there is no evidence of transgenic DNA or proteins of current GM in the products of animals consuming such feeds. On this evidence, current HT and Bt constructs represent no threat to the health of animals, or humans consuming the products of such animals. However as new GM constructs become available it will be necessary to subject these to rigorous evaluation.

MDM2 (RS769412) G>A Polymorphism in Cigarette Smokers: a Clue for the Susceptibility to Smoking and Lung Cancer Risk

  • Ahmad, Dilshad;Bakairy, Abdul Karieem;Katheri, Abdull Malika;Tamimi, Waleed
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.9
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    • pp.4057-4060
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    • 2015
  • Cigarette smoke contains oxidants and free radicals which are carcinogens that can induce mutations in humans. Single nucleotide polymorphisms (SNPs) are the most frequent genetic alterations found in the human genome. In the present study, we have examined the ability of the murine double minute 2 (Mdm2) (rs769412) A>G polymorphism in cigarette smokers to predict risk of cancers. Our results showed that of smokers, 87% were found with AA genotype, 10% with heterozygous AG genotype, and 3% with GG genotype. The heterozygous AG genotype was observed in a lower percentage of smokers (10%) as compared to non-smokers (18%), whereas, homozygous AA genotype was observed in lower percentage of non-smokers (81%) as compared to the smokers (87%). The results from present study support the association with an allele and AG genotype in non-smokers. However, further studies are required to establish the role of Mdm2 (rs769412) C>T in cigarettes smokers and diseases.

Oncogene-Driven Metabolic Alterations in Cancer

  • Min, Hye-Young;Lee, Ho-Young
    • Biomolecules & Therapeutics
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    • v.26 no.1
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    • pp.45-56
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    • 2018
  • Cancer is the leading cause of human deaths worldwide. Understanding the biology underlying the evolution of cancer is important for reducing the economic and social burden of cancer. In addition to genetic aberrations, recent studies demonstrate metabolic rewiring, such as aerobic glycolysis, glutamine dependency, accumulation of intermediates of glycolysis, and upregulation of lipid and amino acid synthesis, in several types of cancer to support their high demands on nutrients for building blocks and energy production. Moreover, oncogenic mutations are known to be associated with metabolic reprogramming in cancer, and these overall changes collectively influence tumor-microenvironment interactions and cancer progression. Accordingly, several agents targeting metabolic alterations in cancer have been extensively evaluated in preclinical and clinical settings. Additionally, metabolic reprogramming is considered a novel target to control cancers harboring un-targetable oncogenic alterations such as KRAS. Focusing on lung cancer, here, we highlight recent findings regarding metabolic rewiring in cancer, its association with oncogenic alterations, and therapeutic strategies to control deregulated metabolism in cancer.

PRODUCTION, EVOLUTION AND REPRODUCTIVE ENDOCRINOLOGY OF DUCKS

  • Tanabe, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.5 no.1
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    • pp.173-181
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    • 1992
  • Duck is an important domestic animal, especially in Asia. Eighty five percent of ducks in the world are kept in Asia, especially in the East and South Asia regions. The ancestor of domesticated ducks was mallard (Anas platylhynchos), which are still migrating between north and southern parts in Eurasia. Ducks have been domesticated in China for at least 3000 years ago. Phylogenetic studies on ducks, employing electrophoresis of blood proteins, indicate a marked difference of genetic constitution between duck breeds in southeast Asia and those in northeast Asia. Duck embryonic ovary is much more active in secretion of sex steroid hormones especially estradiol than the embryonic testes. Estradiol secreted by the embryonic left ovary has an important role in female sexual differentiation in ducks. In the female ducks, plasma LH, estradiol and testosterone levels increase and reach peaks shortly before the first egg, while progesterone level reach a peak shortly after the first egg. In laying ducks oviposition mostly occurs in the last 3 hr of darkness and first hr of light ranging 02:00-06:00 under 14 hr light (05:00-19:00) and 10 hr darkness photoperiodic condition. Measurements of plasma hormone levels reveal that onset of darkness is a major signal for LH release from the pituitary and the subsequent release of progesterone from ovary, and for induction of ovulation in the female duck.

가족배경이 자녀의 성격형성에 미치는 영향에 관한 연구 -자녀의 수 및 성 구성을 중심으로-

  • Choe, Jeong
    • Korea journal of population studies
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    • v.7 no.1
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    • pp.78-123
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    • 1984
  • This study is attempting to examine the possible determinants of the rise of the sex ratio at birth from 106 to 110 in past decade in Taiwan. The basic hypothesis for the sudden rise of the sex ratio at birth is due to a combination of prenatal sex determination and abortion. The reasoning for this hypothesis involves three types of considerations - motivation, norm, and access. The theory is evaluated by analyzing data from birth registration and a large and representative sampie of Taiwanese wives of childbearing age. The empirical data seem to support the theoretical preposition and the basic hypothesis that the rise of the sex ratio at birth in Taiwan is due to a combination of prenatal sex determination and abortion. There is striking evidence of son-preference in the rise of the sex ratio at birth in higher birth order. In 1990 the sex ratio was 119 for third births and 128 for fourth and fifth births compared to the expected 106. Also, the 1991 KAP data indicated that women who have only daughters but no any son are more likely to make prenatal sex screening and terminate their pregnancies in male live births at higher birth order. Obviously, genetic diagnosis through chorionic villus sampling which was available in recent years was misused for prenatal sex determination and sex selective abortion.

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Polymorphisms of LEP, LGB and PRLR in water buffalo

  • Seong, Jiyeon;Kong, Hong Sik
    • Korean Journal of Agricultural Science
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    • v.39 no.4
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    • pp.577-581
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    • 2012
  • The polymorphisms of several genes including Leptin (LEP), beta-lactoglobulin (LGB) and Prolactin receptor (PRLR) have been shown to affect milk composition traits in dairy cattle. But, the effects of these polymorphisms on the milk traits of Philippine water buffalo are still unclear. In the Philippines, buffalo are the major milk producers most of which are the Philippine carabao (PC), the American Murrah Buffalo (AMB) and Bulgarian Murrah Buffalo (BMB). The LEP, LGB and PRLR genes are considered to be associated with milk production traits. The objective of the present study was to identify the single nucleotide polymorphisms (SNPs) in the LEP, LGB and PRLR genes of PC, AMB and BMB and to investigate the effect of the SNPs on milk production traits in these buffalo. Genetic polymorphisms were screened by DNA sequencing and 12 SNPs were detected in BMB; 5 SNPs were in LEP exon3 region (G14227A, G14343A, T14502C, C14526T, G14603A); 5 SNPs were in LGB exon 2 region (G1861C, A1900G, G1901T, T1948C, G1949A); 2 SNPs were in PRLR exon 6 (T59047C, T59109C). Also, 12 polymorphism sites between cattle and buffalo were identified. Our analysis of the association between SNPs and milk production traits should be useful in future studies of buffalo breeding to improve lactation performance.

Development of Optimal Breeding Pigs Using DNA Marker Information

  • Kim, Sang-Wook;Roh, Jung-Gun;Cho, Yang-Il;Choi, Bong-Hwan;Kim, Tae-Hun;Kim, Jong-Joo;Kim, Kwan-Suk
    • Genomics & Informatics
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    • v.8 no.2
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    • pp.81-85
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    • 2010
  • The aim of the study was to investigate pig reference families, generated from Korean native pigs (KNP) that were crossed with Yorkshire (YS) breeds, which were used to evaluate genetic markers to select breeding animals with superior pork quality. A set of five candidate genes (PRKAG3, MC4R, CAST, ESR, and PRLR ) was analyzed for association with pork quality traits. PRKAG3 (I199V) SNP genotypes were significantly associated with muscle moisture, protein, and fat contents. The MC4R D298N polymorphism was significantly associated with meat tenderness and color traits. The CAST polymorphism was significantly associated with muscle moisture and crude protein traits. These three genes have been associated with pork quality traits in other pig populations, and some of our results are consistent with earlier studies. In addition, two reproductive candidate genes (ESR and PRLR ) did not have significant associations. These results suggest that further study is warranted to investigate and develop more DNA markers associated with pork quality in our KNP-crossed pig families.

Sex Preference and Sex Ratio at Birth: the Case of Taiwan (대만의 남아선호와 출생시 성비의 불균형)

  • Chang, Ming-cheng
    • Korea journal of population studies
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    • v.17 no.2
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    • pp.98-115
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    • 1994
  • This study is attempting to examine the possible determinants of the rise of the sex ratio at birth from 106 to 110 in past decade in Taiwan. The basic hypothesis for the sudden rise of the sex ratio at birth is due to a combination of prenatal sex determination and abortion. The reasoning for this hypothesis involves three types of considerations - motivation, norm, and access. The theory is evaluated by analyzing data from birth registration and a large and representative sampie of Taiwanese wives of childbearing age. The empirical data seem to support the theoretical preposition and the basic hypothesis that the rise of the sex ratio at birth in Taiwan is due to a combination of prenatal sex determination and abortion. There is striking evidence of son-preference in the rise of the sex ratio at birth in higher birth order. In 1990 the sex ratio was 119 for third births and 128 for fourth and fifth births compared to the expected 106. Also, the 1991 KAP data indicated that women who have only daughters but no any son are more likely to make prenatal sex screening and terminate their pregnancies in male live births at higher birth order. Obviously, genetic diagnosis through chorionic villus sampling which was available in recent years was misused for prenatal sex determination and sex selective abortion.

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Genome-Wide SNP Calling Using Next Generation Sequencing Data in Tomato

  • Kim, Ji-Eun;Oh, Sang-Keun;Lee, Jeong-Hee;Lee, Bo-Mi;Jo, Sung-Hwan
    • Molecules and Cells
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    • v.37 no.1
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    • pp.36-42
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    • 2014
  • The tomato (Solanum lycopersicum L.) is a model plant for genome research in Solanaceae, as well as for studying crop breeding. Genome-wide single nucleotide polymorphisms (SNPs) are a valuable resource in genetic research and breeding. However, to do discovery of genome-wide SNPs, most methods require expensive high-depth sequencing. Here, we describe a method for SNP calling using a modified version of SAMtools that improved its sensitivity. We analyzed 90 Gb of raw sequence data from next-generation sequencing of two resequencing and seven transcriptome data sets from several tomato accessions. Our study identified 4,812,432 non-redundant SNPs. Moreover, the workflow of SNP calling was improved by aligning the reference genome with its own raw data. Using this approach, 131,785 SNPs were discovered from transcriptome data of seven accessions. In addition, 4,680,647 SNPs were identified from the genome of S. pimpinellifolium, which are 60 times more than 71,637 of the PI212816 transcriptome. SNP distribution was compared between the whole genome and transcriptome of S. pimpinellifolium. Moreover, we surveyed the location of SNPs within genic and intergenic regions. Our results indicated that the sufficient genome-wide SNP markers and very sensitive SNP calling method allow for application of marker assisted breeding and genome-wide association studies.