• Title/Summary/Keyword: Genetic association study

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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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    • v.13 no.12
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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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    • v.13 no.7
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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.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.50 no.4
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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

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

  • Yoon-Joo SONG;Sung Won LEE;Hyun-Seok JIN;Sangwook PARK
    • Korean Journal of Clinical Laboratory Science
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    • v.56 no.1
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    • pp.66-72
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    • 2024
  • Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.

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

  • Lee, Hyo-Jung;Kim, Min-Ji;Park, Mi-Ra
    • The Korean Journal of Applied Statistics
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    • v.23 no.1
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    • pp.95-111
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    • 2010
  • Recently, there have been lots of study for disease-genetic association using SNPs and haplotypes. Statistical methods and tools for various types of data are developed by many researchers. However, there is no unified software which can handle most of major analysis, and the methods and manners to deal with data are quite different through softwares. And thus it is not easy to researcher to choose proper software. In this study, we devide analyzing procedures into three steps: preliminary analysis, population-based analysis and family-based analysis. We review the statistical methods for each step and compare the features of the FBAT, SAS/Genetics, SAGE and R as major integrating softwares for genetic study.

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

  • Kim, Tae-Sung;Cha, Seung-Min;Wang, Seong-Keun;Kim, Jeong-Lan;Lee, Young-Ho;Choi, Hye-In;Chee, Ik-Seung
    • Korean Journal of Biological Psychiatry
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    • v.19 no.1
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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
    • Biomedical Science Letters
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    • v.26 no.1
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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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    • 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.

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

  • Park, Jun-Hui;Kim, Yeong-Ok
    • Journal of the Korean Dietetic Association
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    • v.12 no.3
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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
    • Korean Journal of Breeding Science
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    • v.40 no.3
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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.