• Title/Summary/Keyword: genetic epidemiology

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Associations Between XRCC1 Arg399Gln, Arg194Trp, and Arg280His Polymorphisms and Risk of Differentiated Thyroid Carcinoma: A Meta-analysis

  • Du, Yang;Han, Li-Yuan;Li, Dan-Dan;Liu, Hui;Gao, Yan-Hui;Sun, Dian-Jun
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5483-5487
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    • 2013
  • Background: Associations between Arg399Gln, Arg194Trp and Arg280His polymorphisms of the XRCC1 gene and risk of differentiated thyroid carcinoma (DTC) have been widely studied but the findings are contradictory. Methods: We performed a meta-analysis in the present study using STATA 11.0 software to clarify any associations. Electronic literature databases and reference lists of relevant articles revealed a total of 10, 6 and 6 published studies for the Arg399Gln, Arg194Trp and Arg280His polymorphisms, respectively. Results: No significant associations were observed between Arg399Gln and DTC risk in all genetic models within the overall and subgroup meta-analyses, while the Trp/Trp vs Arg/Arg and recessive model of the Arg194Trp polymorphism was associated with DTC susceptibility, and the dominant model of Arg280His polymorphism contributed to DTC susceptibility in Caucasians. Conclusions: Our meta-analysis suggests that XRCC1 Arg194Trp may be a risk factor for DTC development.

Genetic sequence and phylogenetic analysis of spike genes of Porcine epidemic diarrhea virus (PEDV) in Chung-Nam area (충남지역 돼지유행성설사 바이러스 Spike 유전자 염기서열 및 계통분석)

  • Park, Hyo-Seon;Yook, Sim-Yong;Jeon, Dong-Min;Lee, Jin-Ju;Shin, Chang-Ho
    • Korean Journal of Veterinary Service
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    • v.39 no.4
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    • pp.259-266
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    • 2016
  • Porcine epidemic diarrhea virus (PEDV) causes an acute and lethal watery diarrhea in piglets that is great economic losses to the swine country worldwide. The spike (S) glycoprotein is an important determinant for PEDV biological properties. In the present study, we determined the full-length S gene sequences of five Chung-nam PEDV field isolates collected in 2016. The S gene was amplified by RT-PCR, purificated, sequenced, analyzed and then compared with published sequences of other PEDV strains. 5 field strains share 98.5%~99.9% homologies with each other at the nucleotide sequence level and 96.7%~99.9% homologies with each other at the amino acids sequence level. Most field strains have nucleotide insertions, deletions and mutation regions, and show lower homologies (93.1~93.8%) with classical and vaccine strains, however higher homologies (99.1%~99.5%) with US PEDV isolates in 2013. By phylogenetic tree analysis based on nucleotide sequence, five PEDV field isolates were clustered into Genogroup 2b but differ genetically from the vaccine strains (SM-98 and DR-13).

A Whole Genome Association Study to Detect Single Nucleotide Polymorphisms for Carcass Traits in Hanwoo Populations

  • Lee, Y.-M.;Han, C.-M.;Li, Yi;Lee, J.-J.;Kim, L.H.;Kim, J.-H.;Kim, D.-I.;Lee, S.-S.;Park, B.-L.;Shin, H.-D.;Kim, K.-S.;Kim, N.-S.;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.23 no.4
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    • pp.417-424
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    • 2010
  • The purpose of this study was to detect significant SNPs for carcass quality traits using DNA chips of high SNP density in Hanwoo populations. Carcass data of two hundred and eighty nine steers sired by 30 Korean proven sires were collected from two regions; the Hanwoo Improvement Center of National Agricultural Cooperative Federation in Seosan, Chungnam province and the commercial farms in Gyeongbuk province. The steers in Seosan were born between spring and fall of 2006 and those in Gyeonbuk between falls of 2004 and 2005. The former steers were slaughtered at approximately 24 months, while the latter steers were fed six months longer before slaughter. Among the 55,074 SNPs in the Illumina bovine 50K chip, a total of 32,756 available SNPs were selected for whole genome association study. After adjusting for the effects of sire, region and slaughter age, phenotypes were regressed on each SNP using a simple linear regression model. For the significance threshold, 0.1% point-wise p value from F distribution was used for each SNP test. Among the significant SNPs for a trait, the best set of SNP markers were selected using a stepwise regression procedure, and inclusion and exclusion of each SNP out of the model was determined at the p<0.001 level. A total of 118 SNPs were detected; 15, 20, 22, 28, 20, and 13 SNPs for final weight before slaughter, carcass weight, backfat thickness, weight index, longissimus dorsi muscle area, and marbling score, respectively. Among the significant SNPs, the best set of 44 SNPs was determined by stepwise regression procedures with 7, 9, 6, 9, 7, and 6 SNPs for the respective traits. Each set of SNPs per trait explained 20-40% of phenotypic variance. The number of detected SNPs per trait was not great in whole genome association tests, suggesting additional phenotype and genotype data are required to get more power to detect the trait-related SNPs with high accuracy for estimation of the SNP effect. These SNP markers could be applied to commercial Hanwoo populations via marker-assisted selection to verify the SNP effects and to improve genetic potentials in successive generations of the Hanwoo populations.

Amplified fragment length polymorphism analysis and genetic variation of the pinewood nematode Bursaphelenchus xylophilus in South Korea

  • Jung, Jong-Woo;Han, Hye-Rim;Ryu, Sung-Hee;Kim, Won
    • Animal cells and systems
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    • v.14 no.1
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    • pp.31-36
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    • 2010
  • The pinewood nematode Bursaphelenchus xylophilus causes pine wilt disease and is a serious economic concern for the forest industry of South Korea. To achieve effective control with limited resources, it is necessary to clarify the transmission routes and mechanisms of dispersal of this organism. Highly polymorphic and easy-to-use molecular markers can be used for investigating this aspect. In this study, we evaluated the usefulness of amplified fragment length polymorphisms (AFLPs) for investigating the genetic variations of B. xylophilus and related individuals from China, Japan, and South Korea. The AFLP patterns obtained in our study were similar to the microsatellite patterns reported in a previous study; our AFLP patterns indicated high genetic variability and cryptic genetic structure, but did not indicate any peculiar geographic structure. Moreover, the genetic distances between individuals suggested that the Korean population was affected to a greater extent by the Chinese population than the Japanese population. Further, the gene flow among the related species appeared to be limited; however, there may be also the possibility of genetic introgression among species. These results confirm the usefulness of AFLPs for understanding the epidemiology of pine wilt disease, thereby contributing to the effective control of this disease.

Lifestyle and Cancer Risk

  • Weiderpass, Elisabete
    • Journal of Preventive Medicine and Public Health
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    • v.43 no.6
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    • pp.459-471
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    • 2010
  • The main behavioural and environmental risk factors for cancer mortality in the world are related to diet and physical inactivity, use of addictive substances, sexual and reproductive health, exposure to air pollution and use of contaminated needles. The population attributable fraction for all cancer sites worldwide considering the joint effect of these factors is about 35% (34 % for low- and middle-income countries and 37% for high-income countries). Seventy-one percent of lung cancer deaths are caused by tobacco use (lung cancer is the leading cause of cancer death globally). The combined effects of tobacco use, low fruit and vegetable intake, urban air pollution, and indoor smoke from household use of solid fuels cause 76% of lung cancer deaths. Exposure to these behavioural and environmental factors is preventable; modifications in lifestyle could have a large impact in reducing the cancer burden worldwide. The evidence of association between lifestyle factors and cancer, as well as the main international recommendations for prevention are briefly reviewed and commented upon here.

Random amplification of polymorphic DNA typing of Listeria monocytogenes isolates from animal products (축산물유래 Listeria monocytogenes의 RAPD typing)

  • Lee, Chul-Hyun;Son, Won-Geun
    • Korean Journal of Veterinary Research
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    • v.49 no.4
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    • pp.319-328
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    • 2009
  • This study investigated the epidemiology of Listeria (L.) monocytogenes, a food-borne pathogen. The epidemiology of food-borne pathogens is of great importance for clarifying bacterial origin and preventing bacterial contamination and infection. This work examined 68 L. monocytogenes strains, including 11 reference strains and 57 isolates from imported US beef, domestic meats (beef, pork, chicken meat), raw milk, and milk plants. The random amplified polymorphic DNA (RAPD) techniques were optimized to develop a standard molecular epidemiological analysis of L. monocytogenes. There was great genetic variability among the isolates, which produced 24 and 34 RAPD patterns with primer HLWL85 and HLWL74, respectively. The discriminatory power of the RAPD methods with HLWL85 and HLWL74 primer were very high (DI = 0.957; S ${\geq}$ 80%, S ${\geq}$ 95%). Some RAPD types were specific to origin. A few RAPD types were specific for L. monocytogenes strains belonging to a particular serotype. Using the HLWL85 primer, the strains isolated from milk plants could be distinguished from the other strains. And using the HLWL74 primer, the strains isolated from imported beef (US) could be distinguished completely from the other strains.

Polymorphisms of XRCC1 and ADPRT Genes and Risk of Noncardia Gastric Cancer in a Chinese Population: a Case-control Study

  • Pan, Xiong-Fei;Xie, Yao;Loh, Marie;Yang, Shu-Juan;Wen, Yuan-Yuan;Tian, Zhi;Huang, He;Lan, Hui;Chen, Feng;Soong, Richie;Yang, Chun-Xia
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5637-5642
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    • 2012
  • Objective: Gastric cancer (GC) is one of the most common malignancies and its mortality ranks third among all cancers in China. We previously noted that XRCC1 Arg194Trp was associated with GC risk in Western China in a study on XRCC1 Arg194Trp and ADPRT Val762Ala. We aimed to further explore the association of these polymorphisms with risk of the noncardia subtype. Methods: We enrolled 176 noncardia GC patients and 308 controls from four hospitals and a community between October 2010 and August 2011. Genotyping was performed in a 384-well plate format on the Sequenom MassARRAY platform. A self-designed questionnaire was utilized to collect epidemiological data from the subjects regarding demographic factors and potential risk factors. Results: Subjects were aged $56.8{\pm}11.8$ (mean ${\pm}$ standard deviation) and $57.6{\pm}11.1$ years in the case and control groups, respectively. Individuals carrying the XRCC1 Trp/Trp or Arg/Trp variant genotype were at significantly increased risk of noncardia GC (adjusted OR, 1.48; 95% CI, 1.00-2.17), after adjustment for family history of cancer, drinking, and smoking. The increased risk of XRCC1 Arg194Trp variant genotype was more pronounced among subjects below 60 years old (adjusted OR, 1.78; 95% CI, 1.07-2.96), compared to older individuals. ADPRT Val762Ala variants (Ala/Ala or Val/Ala) were not associated with noncardia GC (adjusted OR, 1.03; 95% CI, 0.69-1.54). Conclusions: Our study suggests that XRCC1 Arg194Trp is a genetic susceptibility factor for developing noncardia GC in Han Chinese in Western China. In particular, individuals with the XRCC1 Arg194Trp variant genotype are at increased risk for GC below 60 years old.

A Study on the Urinary Metabolite by PAHs and Genetic Susceptibility Markers

  • Chung, Young-Hee;Kim, Dae-Seon;Kang, Tack-Shin
    • Proceedings of the Korean Environmental Health Society Conference
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    • 2005.12a
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    • pp.115-117
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    • 2005
  • In this study, the methods were developed to measure polycyclic aromatic hydrocarbons(PAHs) in the air, metabolites of pyrene and benzo(a)pyrene via human urine, genetic polymorphisms in human buccal cell for evaluation of the health effects about environmental pollution. We have also performed a preliminary molecular epidemiology study on residents in the metropolitan area and workers in workplace for these method applications.

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Cardiomyopathies in children

  • Hong, Young Mi
    • Clinical and Experimental Pediatrics
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    • v.56 no.2
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    • pp.52-59
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    • 2013
  • Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.

Novel Promoter Polymorphism in RUNX2 Is Associated with Serum Triglyceride Level

  • Shin, Hyoung Doo;Jeon, Jae-Pil;Park, Byung Lae;Bae, Joon Seol;Nam, Hye-Young;Shim, Sung-Mi;Park, Kyong Soo;Han, Bok-Ghee
    • Molecules and Cells
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    • v.26 no.5
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    • pp.459-461
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    • 2008
  • Much research evidence supports the hypothesis that chronic, low-grade inflammation related to innate immunity may play an important role in the pathophysiology of type 2 diabetes mellitus (T2DM). Runt-related transcription factor 2 (RUNX2; MIM# 600211) acts as a scaffold that controls the integration, organization, and assembly of nucleic acids. To examine whether the novel promoter variant in RUNX2 is associated with the risk of T2DM and related phenotypes, RUNX2-742G > T was genotyped in 378 T2DM patients and 382 normal controls recruited in the Korean T2DM Study. Statistical analysis revealed that RUNX2-742G > T was associated with serum triglyceride level (TG) in nondiabetic controls, although it was not associated with the risk of T2DM. Individuals who carry T/T, T/G, and G/G genotypes had the highest ($2.061{\pm}0.20$), intermediate ($2.01{\pm}0.19$), and the lowest ($1.97{\pm}0.18$) levels of log [TG (mmol/l)] (P = 0.007), respectively. Our data on this important variant of RUNX2 suggest that lipid metabolism might be affected by genetic polymorphisms in the promoter region.