• 제목/요약/키워드: Genetic association study

검색결과 1,554건 처리시간 0.032초

Identification of Genetic and Non-genetic Risk Factors for Nasopharyngeal Carcinoma in a Southeast Asian Population

  • Hashim, Nikman Adli Nor;Ramzi, Nurul Hanis;Velapasamy, Sharmila;Alex, Livy;Chahil, Jagdish Kaur;Lye, Say Hean;Munretnam, Khamsigan;Haron, Mohd Roslan;Ler, Lian Wee
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권12호
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    • pp.6005-6010
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    • 2012
  • Background: Nasopharyngeal carcinoma (NPC) is endemic in Southern Chinese and Southeast Asian populations. Geographical and ethnic clustering of the cancer is due to genetic, environmental, and lifestyle risk factors. This case-control study aimed to identify or confirm both genetic and non-genetic risk factors for NPC in one of the endemic countries, Malaysia. Materials and Methods: A panel of 768 single-nucleotide polymorphisms (SNPs) previously associated with various cancers and known non-genetic risk factors for NPC were selected and analyzed for their associations with NPC in a case-control study. Results: Statistical analysis identified 40 SNPs associated with NPC risk in our population, including 5 documented previously by genome-wide association studies (GWAS) and other case-control studies; the associations of the remaining 35 SNPs with NPC were novel. In addition, consistent with previous studies, exposure to occupational hazards, overconsumption of salt-cured foods, red meat, as well as low intake of fruits and vegetables were also associated with NPC risk. Conclusions: In short, this study confirmed and/or identified genetic, environmental and dietary risk factors associated with NPC susceptibility in a Southeast Asian population.

CYP1A1 Gene Polymorphisms: Modulator of Genetic Damage in Coal-Tar Workers

  • Giri, Shiv Kumar;Yadav, Anita;Kumar, Anil;Dev, Kapil;Gulati, Sachin;Gupta, Ranjan;Aggarwal, Neeraj;Gautam, Sanjeev Kumar
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권7호
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    • pp.3409-3416
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    • 2012
  • Aim: It is well known that polycyclic aromatic hydrocarbons (PAHs) such as benzo (a) pyrene have carcinogenic properties and may cause many types of cancers in human populations. Genetic susceptibility might be due to variation in genes encoding for carcinogen metabolizing enzymes, such as cytochrome P-450 (CYP450). Our study aimed to investigate the effect of genetic polymorphisms of CYP1A1 (m1 and m2) on genetic damage in 115 coal-tar workers exposed to PAHs at their work place. Methods: Genetic polymorphisms of CYP1A1 were determined by the PCR-RFLP method. Comet and buccal micronucleus assays were used to evaluate genetic damage among 115 coal tar workers and 105 control subjects. Results: Both CYP1A1 m1 and CYP1A1 m2 heterozygous and homozygous (wt/mt+mt/mt) variants individually as well as synergistically showed significant association (P<0.05) with genetic damage as measured by tail moment (TM) and buccal micronuclei (BMN) frequencies in control and exposed subjects. Conclusion: In our study we found significant association of CYP1A1 m1 and m2 heterozygous (wt/mt)+homozygous (mt/mt) variants with genetic damage suggesting that these polymorphisms may modulate the effects of PAH exposure in occupational settings.

Genetic Variability and Association of Yield Attributing Characters with Grain Yield in Deepwater Rice

  • Bose L. K.;Pradhan S. K.;Mohanty A.;Nagaraju M.
    • 한국작물학회지
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    • 제50권4호
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    • pp.262-264
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    • 2005
  • A study on genetic variability and association of yield attributing characters with grain yield was carried out using 35 deepwater rice genotypes. High genotypic co-efficient of variation (GCV) was observed for plot yield, $EBT/m^2$, plant height and days to $50\%$ flowering (DFF). For all the traits, estimates of the phenotypic co-efficient of variation (PCV) were higher than GCV, indicating presence of environmental influence. High heritability and genetic advance was observed for plot yield, $EBT/m^2$ and plant height. Plot yield had significant positive association with test weight, $EBT/m^2$ and DFF. However, test weight had the maximum direct effect on grain yield

한국인 ABO 유전자 다형성과 이상지질혈증의 연관성 (Association of ABO Genetic Polymorphisms and Dyslipidemia in Korean Population)

  • 송윤주;이성원;진현석;박상욱
    • 대한임상검사과학회지
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    • 제56권1호
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    • pp.66-72
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    • 2024
  • 지질 대사장애는 임상에서 흔히 볼 수 있는 질환이다. 이상지질혈증(dyslipidemia)과 그 유병률은 전세계적으로 심혈관질환의 이환율 및 사망률과 밀접한 관련이 있다. 한국인 대상 40~64세 성인 중년층을 대상으로 ABO 유전자의 다형성과 이상지질혈증과의 연관성을 확인하기 위해 유전자 분석을 실시하였다. 본 연구는 한국인 유전체분석자료(Korean Association REsource, KARE)에서 총 6,750명의 피험자를 선정하였다. KARE 자료의 이상지질혈증 환자 4,403명과 정상 대조군 2,347명의 유전자형 데이터를 사용하여 ABO 유전자의 단일염기다형성(single nucleotide polymorphisms, SNPs)과 유전적 상관관계를 분석하였다. 그 결과 ABO 유전자 중 11개 SNPs 가 이상지질혈증과 통계적으로 유의미한 연관성을 나타내었다. 이 중 ABO 유전자의 rs8176707이 통계적으로 이상지질혈증과 가장 유의한 상관관계를 보였다(P-value=0.002, odds ratio=0.82, 95% confidence interval 0.78~0.86). ABO minor allele T는 이상지질혈증 위험을 감소시키는 것으로 나타났다. 본 연구는 ABO 유전자의 유전적 다형성과 이상지질혈증 사이의 유의미한 연관성을 밝힌 연구이다. 이러한 결과는 ABO의 SNPs가 이상지질혈증의 원인과 유전적 상관관계가 있음을 시사한다고 하겠다.

집단 및 가족기반연구에서의 유전적 연관성 분석 고찰: 방법론과 소프트웨어 (A Review of Genetic Association Analyses in Population and Family Based Data: Methods and Software)

  • 이효정;김민지;박미라
    • 응용통계연구
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    • 제23권1호
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    • pp.95-111
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    • 2010
  • 최근 단일염기다형성 및 일배체형을 이용한 질병-유전자간 연관성연구가 많이 진행되고 있으며, 이를 위한 다양한 분석방법과 분석도구가 개발되고 있다. 그러나 통합 소프트웨어는 충분히 확립되지 못하였으며, 각 소프트웨어가 제공하는 분석방법 및 양식에 차이가 많아 연구자가 적절한 것을 선택하기가 쉽지 않다. 본고에서는 유전적 연관성연구를 사전분석단계, 집단기반연구방법, 가족기반연구방법으로 나누어 각각의 목적에 따른 분석방법을 고찰하고, 이의 분석을 위한 주요 소프트웨어로서 FBAT, SAS/Genetics, SAGE, R의 지원내용과 방법을 비교하였다.

한국인 조현병 환자와 도파민 D2 수용체 유전자 다형성과의 관련연구 (Association Study between DRD2 Genetic Polymorphisms and Schizophrenia in a Korean Population)

  • 김태성;차승민;왕성근;김정란;이영호;최혜인;지익성
    • 생물정신의학
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    • 제19권1호
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    • pp.60-64
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    • 2012
  • Objectives : This study was designed to investigate the association between the dopamine D2 receptor (DRD2) genetic polymorphism [TaqIB (rs17294542) and TaqID (rs1800498)] and patients with schizophrenia. Methods : TaqIB (rs17294542) and TaqID (rs1800498) polymorphism of the DRD2 gene were typed in 100 patients with schizophrenia and 109 normal controls. Results : There were no statistical differences in genotype and allele distribution of TaqIB (rs17294542) and TaqID (rs1800498) genetic polymorphism between patients with schizophrenia and normal controls. Conclusions : These results suggest that the TaqIB (rs17294542) and TaqID (rs1800498) polymorphisms of the DRD2 gene may not be associated with schizophrenia in the Korean population.

Association of the Genetic Polymorphisms for CD247 Gene and Tuberculosis Case

  • Ju, Yeongdon;Kim, Sung-Soo;Lee, Kyung Eun;Park, Sangjung;Jin, Hyunwoo
    • 대한의생명과학회지
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    • 제26권1호
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    • pp.22-27
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    • 2020
  • Tuberculosis is airborne disease caused by Mycobacterium tuberculosis (MTB). Host genetic factors of these tuberculosis play an important role in determining individual difference in susceptibility or resistance to infectious diseases including tuberculosis. CD247 is named CD3zeta chain or CD3ζ. CD247 gene is a protein-coding gene involved in phagocytosis and signal transduction of the T cell receptor (TCR). Also, downregulation of the CD3ζ chain has been associated to chronic inflammation. The aim of this study was to research association of the genetic polymorphisms for CD247 gene and tuberculosis. We analyzed association of CD247 and Mycobacterium tuberculosis using 149 imputed single nucleotide polymorphisms (SNPs) with Korean population. And the results of this study show that seven SNPs of CD247 were identified to associate with tuberculosis. The most significant SNP was rs858545 (OR=1.22, CI: 1.05~1.42, P=0.009481). This study suggests that polymorphisms of CD247 may affect the T cell receptor signaling pathway, which may associate the infection of tuberculosis.

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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    • 제19권11호
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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.

초등학교 여학생의 환경과 유전적 요인 및 비만도와 성적성숙도와의 관련성에 대한 연구 (Relationship of Environmental Factors, Genetic Factors and Obesity with Sexual Maturity among Elementary School Girls)

  • 박준희;김영옥
    • 대한영양사협회학술지
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    • 제12권3호
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    • pp.225-234
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    • 2006
  • The purpose of this study was to identify the factors that related to obesity among 6th grade elementary school girls. The study subjects were 337 girls residing in Seoul. Not only variables of nutritional environment such as eating habits, health related behavioral variables, nutritional feeding methods during infancy, and genetic factors but also sexual maturity had been included as a obesity related factors. Association between obesity and related variables were analyzed by $x^2$(Chi-square) test. The obesity prevalence of the study subjects were 16% based on Röhrer Index(RI). Fifty-three percent of the study subjects experienced menarche at the time of data collection. Result of analysis showed that not only the nutritional enviromental variables such as eating habits, specific food preferences, and habit of exercise but also genetic factors did not show any statistically significant association with obesity. Above finding may imply that more variables other than the variables included in this study might have influenced on the obesity of the children. However sexual maturity in term of breast development showed significant association with obesity.

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Genetic Diversity Among Waxy Corn Accessions in Korea Revealed by Microsatellite Markers

  • Park, Jun-Seong;Park, Jong-Yeol;Park, Ki-Jin;Lee, Ju-Kyong
    • 한국육종학회지
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    • 제40권3호
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    • pp.250-257
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    • 2008
  • Knowledge of genetic diversity and of the genetic relationships among elite breeding materials has had a significant impact on the improvement of crops. In maize, this information is particularly useful in i) planning crosses for hybrid and line development, ii) in assigning lines to heterotic groups and iii) in plant variety protection. We have used the SSR technique to study the genetic diversity and genetic relationships among 76 Korean waxy corn accessions, representing a diverse collection from throughout Korea. Assessment of genetic diversity among members of this group was conducted using 30 microsatellite markers. Among these 30 microsatellite markers, we identified a total of 127 alleles (with an average of 4.2 and a range of between 2 and 9 alleles per locus). Gene diversity at these 30 microsatellite loci varied from 0.125 to 0.795 with an average of 0.507. The cluster tree generated with the described microsatellite markers recognized two major groups with 36.5% genetic similarity. Group I includes 63 inbred lines, with similarity coefficients of between 0.365 and 0.99. Group II includes 13 inbred lines, with similarity coefficients of between 0.45 and 0.85. The present study indicates that the 30 microsatellite loci chosen for this analysis are effective molecular markers for the assessment of genetic diversity and genetic relationships between Korean waxy corn accessions. Specifically, this study's assessment of genetic diversity and relationships between a set of 76 Korean waxy corn inbred lines will be helpful for such activities as planning crosses for hybrid and line development and association mapping analyses of maize breeding programs in Korea.