• Title/Summary/Keyword: allele frequency

Search Result 396, Processing Time 0.035 seconds

Blood Lipid Levels, Nutrient Intakes and Health-Related Lifestyles of Industrial Male Workers According to Apolipoprotein E Polymorphisms (Apolipoprotein E 다형성에 따른 사업장 근로자의 혈중 지질농도, 영양소 섭취 및 건강관련 생활습관)

  • Park, Yoo-Kyoung;Cho, Sang-Woon;Kang, Ji-Yeon;Paek, Yun-Mi;Sung, Sook-Hee;Choi, Tae-In
    • Korean Journal of Community Nutrition
    • /
    • v.13 no.5
    • /
    • pp.713-722
    • /
    • 2008
  • The purpose of this study was to investigate the association among nutrient intakes and health-related lifestyles with cardiovascular disease risk assessed by blood lipid profile according to Apolipoprotein E genotypes. Middle-aged industrial male workers who had completed their annual medical examination were recruited and data of 675 subjects who finished the nutrient survey were used in the analysis. Anthropometric parameters, dietary assessment (FFQ), health-related lifestyles and blood profiles were used for statistical analyses. Apo E genotype groups were classified into the following three genotypes: Apo E2 group (including E2/E2, E2/E3, E2/E4), Apo E3 group (including E3/E3), Apo E4 group (including E3/E4, E4/E4). The frequency of Apo E2, E3, and E4 allele were 13.3%, 75.0% and 11.7% respectively. There were no significant differences in the anthropometric parameters depending on different Apo E genotypes. Also, no significant differences in the nutrient intakes were found according to the genotype groups. The nutrient intakes of all subjects were similar to or higher than the level of KDRIs (Dietary Reference Intakes For Koreans) except for intakes of calcium (67.44% of KDRIs), vitamin A (73.83% of KDRIs) and vitamin $B_2$ (78.02% of KDRIs). Also, there were no significant differences of health-related lifestyles according to Apo E genotype groups. As for the lipid profiles, Apo E4 group had significantly higher total and LDL-cholesterol concentrations than the Apo E2 group (p < 0.05). We confirmed that plasma total and LDL-cholesterol concentrations were greatly influenced by Apo E genotypes. However, nutrient intakes and health-related lifestyles were not associated with Apo E genotypes.

Analysis of Pyrethroid Resistance Allele in Malaria Vector Anopheles sinensis from Malaria High-risk Area (말라리아 위험지역에서 채집된 말라리아 매개모기 Anopheles sinensis의 피레스로이드계 저항성 대립형질 분석)

  • Choi, Kwang Shik;Lee, Seung-Yeol;Hwang, Do-Un;Kim, Heung-Chul;Chang, Kyu-Sik;Jung, Hee-Young
    • The Korean Journal of Pesticide Science
    • /
    • v.20 no.4
    • /
    • pp.286-292
    • /
    • 2016
  • Malaria is mainly transmitted by Anopheles sinensis which is dominant species in malaria high-risk area, northern part of Gyeonggi province in Korea. Pyrethroid insecticide is used for malaria vector, An. sinensis in Korea and the previous investigation consistently reported insecticide resistance from the vector. This study investigated insecticide susceptible and resistant alleles from An. sinensis and the status of malaria vector control in malaria high-risk area. For the study, An. sinensis collected from Paju, Gimpo and Ganghwa were sequenced for kdr detection. In Paju, there was no homozygous susceptibility and all of tested samples had homozygous or heterozygous resistance. There were 6.7% for susceptible homozygosity and 93.3% for resistant homozygosity or heterozygosity in Gimpo. Furthermore, the percentages of homozygous susceptibility and homozygous or heterozygous resistance in Ganghwa were 5.7% and 94.3% respectively. The results showed that the frequency of the insecticide resistance from An. sinensis in malaria high-risk area were increased much more than the previous investigation. Hence, this study suggests that malaria vector control programs should have to be prepared for the management of pyrethroid insecticide resistance.

No Association of Hypoxia Inducible Factor-1α Gene Polymorphisms with Breast Cancer in North-West Indians

  • Sharma, Sarika;Kapahi, Ruhi;Sambyal, Vasudha;Guleria, Kamlesh;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.22
    • /
    • pp.9973-9978
    • /
    • 2014
  • Background: Hypoxia inducible factor-1 alpha (HIF-$1{\alpha}$) is the key regulator of cellular responses to hypoxia and plays a central role in tumour growth. Presence of Single nucleotide polymorphisms (SNPs) in the critical regulatory domains of HIF-$1{\alpha}$ may result in the overexpression of the protein and subsequent changes in the expression of the downstream target genes. The aim of study was to investigate the association of three SNPs (g.C111A, g.C1772T and g.G1790A) of HIF-$1{\alpha}$ with the risk of breast cancer in North Indian sporadic breast cancer patients. Materials and Methods: A total of 400 subjects, including 200 healthy controls and 200 patients with breast cancer were recruited in this study. Genotypes were determined using polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method. Results: The CC and CA genotype frequency of HIF-$1{\alpha}$ g.C111A polymorphism was 100 vs 99% and 0 vs 1% in breast cancer patients and healthy controls respectively. The frequencies of CC, CT and TT genotype of g.C1772T polymorphism were 76 vs 74.5%, 19 vs 21% and 5 vs 4.5% in breast cancer patients and control individuals respectively. There was no significant difference in genotype and allele frequencies of HIF-$1{\alpha}$ g.C1772T polymorphism between cases and control individuals (p>0.05). For g.G1790A genotypes, all patients and controls had only GG genotype. Conclusions: The three HIF-$1{\alpha}$ polymorphisms (g.C111A, g.C1772T and g.G1790A) are not associated with breast cancer risk in North-West Indian patients.

MMP2 Gene-735 C/T and MMP9 gene -1562 C/T Polymorphisms in JAK2V617F Positive Myeloproliferative Disorders

  • Sag, Sebnem Ozemri;Gorukmez, Ozlem;Ture, Mehmet;Gorukmez, Orhan;Topak, Ali;Sahinturk, Serdar;Ocakoglu, Gokhan;Gulten, Tuna;Ali, Ridvan;Yakut, Tahsin
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.16 no.2
    • /
    • pp.443-449
    • /
    • 2015
  • Background: Myeloproliferative disorders (MPDs) are clonal hematologic malignancies originating at the level of the pluripotent hematopoietic stem cell. Matrix metalloproteases (MMPs) are proteolytic enzymes that contribute to all stages of malignancy progression. Genetic variants in the MMP genes may influence the biological function of these enzymes and change their role in carcinogenesis and progression. To our knowledge, this is the first investigation of associations between the -735 C/T and -1562 C/T polymorphisms in the MMP2 and MMP9 genes, respectively, and the risk of essential thrombocytosis (ET), and polycythemia vera (PV). Materials and Methods: The case-control study included JAK2V617F mutation positive 102 ET and PV patients and 111 controls. Polymorphisms were determined by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and electrophoresis. Results: No statistically significant differences were detected between patient (ET+PV) and control groups regarding genotype distribution for MMP2 gene-735 C/T and MMP9 gene -1562 C/T polymorphisms and C/T allele frequency (p>0.050). Statistically borderline significance was observed between PV and control groups regarding genotype distribution for the MMP9 gene -1562 C/T polymorphism (p=0.050, OR=2.26, 95%Cl=0.99-5.16). Conclusions: Consequently this study supported that CC genotype of MMP9 gene -1562 C/T polymorphism may be related with PV even if with borderline significance.

An Association of C/T Polymorphism in the TFF1 Gene and the Susceptibility to Gastric Cancer (TFF1 유전자의 C/T 다형성과 위암 민감성과의 연관성)

  • Maeng, Eun Jae;Song, Jae Hwi;Sung, Soo Yoon;Cao, Zhang;Park, Won Sang
    • Journal of Gastric Cancer
    • /
    • v.8 no.3
    • /
    • pp.113-119
    • /
    • 2008
  • Purpose: This study investigated whether a single nucleotide polymorphism (SNP) located at position -2 in the Kozak sequence of the TFF1 gene is associated with H. pylori infection and the development of gastric cancer in Koreans. Materials and Methods: We enrolled 167 patients with gastric cancer from January 2000 to December 2003 and also 299 healthy controls during the same period. The genotype of the TFF1 SNP was analyzed by polymerase chain reaction-restriction fragment length polymorphism and single strand conformation polymorphism. We also examined the H. pylori infection by Giemsa staining. Results: No significant difference in the allele or the TFF1 SNP genotype frequency was observed between the patients with gastric cancer and the control subjects (P=0.595 and P=0.715, respectively). When stratified by the histological subtype of gastric cancer and the age of the patients, the risk was not statistically significant between the two study groups (P=0.088 and P=0.551, respectively). H. pylori infection was detected in 39 cases and it was not associated with the TFF1 genotype. Conclusion: These findings suggest that this TFF1 gene polymorphism is not associated with H. pylori infection and gastric cancer in Koreans and so it doesn't contribute to the susceptibility to gastric cancer in Koreans.

  • PDF

Isolation and Characterization of Microsatellites in the Brown Planthopper, Nilaparvata lugens $St{\aa}l$ (벼멸구(Nilaparvata lugens)에서 마이크로새털라이트 마커의 분리 및 특성검정)

  • Mun Jeomhee;Song Yoo Han;Roderick George K.
    • Korean journal of applied entomology
    • /
    • v.43 no.4 s.137
    • /
    • pp.311-315
    • /
    • 2004
  • The brown planthopper, Nilaparvata lugens, is among the most serious insect pests of rice. It is widely distributed in Asia, Australia and Pacific islands. An earlier mitochondrial DNA study revealed that there exist significant genetic differences between populations north and south of the Red River Delta region in Vietnam. However the mitochondrial DNA was not sufficiently variable to examine the sources of immigration. For a more detailed analysis of geographic population structure of N. lugens, we developed microsatellite markers. Thirty-seven putative microsatellite loci were isolated using a magnetic biotin method, and five primer pairs designed from the flanking regions of sequenced microsatellite clones were labeled with fluorescent. Of these five primer sets, two have proven to be useful across all the samples we used in this study. We used variation at these two microsatellite loci to test the hypothesis that N. lugens biotypes (1, 2, and 3) sampled from laboratory selection constituted distinct genetic units. Allele frequency differences among the three major biotype categories were not significantly different at one locus (27035). However, the other (7314) did show differences among the major three biotypes. The methods we describe here will be useful for studying population structure of crop pest and for tracking the patterns of migratory pest like the rice planthoppers.

Association Study between Treatment Response of Amisulpride and Dopamine D3 Receptor Gene Polymorphisms (조현병 환자에서 아미설프라이드의 치료반응과 도파민 D3 수용체 유전자다형성의 연관성)

  • Kang, Seung-Gul;Lee, Heon-Jeong;Lee, Seung Jae;Choi, Tae Young;Woo, Jungmin;Kim, Jihyun;Jung, Sung-Won;Koo, Bon Hoon;Lee, Kwanghun;Kim, Jeong-Lan;Chee, Ik-Seung;Lee, Jonghun
    • Korean Journal of Biological Psychiatry
    • /
    • v.20 no.3
    • /
    • pp.91-96
    • /
    • 2013
  • Objectives The aim of this study is to evaluate the association between rs6280 and rs905568 genetic polymorphism of DRD3 gene and the treatment response of amisulpride. Methods After six weeks treatment of amisulpride, 125 schizophrenia patients were interviewed based on the Positive and Negative Syndrome Scale (PANSS) and the Clinical Global Impression-Severity (CGI-S). The genotyping for rs6280 and rs905568 was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. Results There was no significant difference in the frequency of genotype and allele of rs6280 between the responders and non-responders based on the total, positive, and general score of PANSS and CGI-S score. However, there was a significant association between this SNP and treatment response in the negative score of PANSS (${\chi}^2=5.23$, p = 0.022). There was no significant association between rs905568 and the response in positive, negative, general, and total PANSS score and CGI-S score. Conclusions This is the first positive association study between DRD3 gene and the treatment response of negative symptoms to amisulpride in Korean schizophrenia patients. A larger scale research on more SNP of the DRD3 gene will make a progress in the study of pharmacogenetics on the treatment response of the amisulpride.

Characterization of a Korean Traditional Porcine Breed Using Microsatellite Markers and the Establishment of an Individual Identification System (Microsatellite Marker를 이용한 한국재래돼지 집단의 품종특성 및 원산지 추적을 위한 개체식별체계 설정)

  • Kim, M.J.;Li, G.H.;Oh, J.D.;Cho, K.H.;Jeon, G.J.;Choi, B.H.;Lee, J.H.;Hong, Y.S.;Kong, H.S.;Lee, H.K.
    • Food Science of Animal Resources
    • /
    • v.27 no.2
    • /
    • pp.150-156
    • /
    • 2007
  • This study was conducted to analyze the genetic characteristics of Korean Native Pigs(KNP), and to establish an individual identification system comprising many microsatellite markers located on different pig autosomes. Genotype data from 13 microsatellites typed in 446 animals was used to determine the validation of a method of individual identification in 4 KNP. A total of 112 alleles of the 13 microsatellites were detected and average heterozygosities(polymorphic information content) ranged from 0.286(0.423) to 0.686(0.796) in this study. Comparing the pattern of allele frequency among the KNP, Yorkshire, Landrace and Duroc breeds, there was specific differentiation between populations at multi-allelic loci. The cumulative power of discrimination(CPD) was 99.999% by including 10 microsatellite loci for the individual identification system. The probability that two different individuals incidentally have same genotype was estimated to be $0.36{\times}10^{-9}$. The system employing these 10 markers therefore proved to be applicable to the individual identification of KNP.

Polymorphisms in the uncoupling protein 3 gene and their associations with feed efficiency in chickens

  • Jin, Sihua;Yang, Lei;He, Tingting;Fan, Xinfeng;Wang, Yiqiu;Ge, Kai;Geng, Zhaoyu
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.31 no.9
    • /
    • pp.1401-1406
    • /
    • 2018
  • Objective: The uncoupling protein 3 (UCP3) is a member of the mitochondrial anion carrier superfamily and has crucial effects on growth and feed efficiency in many species. Therefore, the objective of the present study was to examine the association of polymorphisms in the UCP3 gene with feed efficiency in meat-type chickens. Methods: Six single nucleotide polymorphisms (SNPs) of the UCP3 gene were chosen to be genotyped using matrix-assisted laser desorption-ionization time-of-flight mass spectrometry in meat-type chicken populations with 724 birds in total. Body weight at 49 (BW49) and 70 days of age (BW70) and feed intake (FI) in the interval were collected, then body weight gain (BWG) and feed conversion ratio (FCR) were calculated individually. Results: One SNP with a low minor allele frequency (<1%) was removed by quality control and data filtering. The results showed that rs13997809 of UCP3 was significantly associated with BWG and FCR (p<0.05), and that rs13997811 had significant effects on BW70 and BWG (p<0.05). Rs13997812 of UCP3 was strongly associated with BW70, FI, and FCR (p<0.05). Furthermore, individuals with AA genotype of rs13997809 had significantly higher BWG and lower FCR (p<0.05) than those with AT genotype. The GG individuals showed strongly higher BW70 and BWG than AA birds in rs13997811 (p<0.05). Birds with the TT genotype of rs13997812 had significantly greater BW70 and lower FCR compared with the CT birds (p<0.05). In addition, the TAC haplotype based on rs13997809, rs13997811, and rs13997812 showed significant effects on BW70, FI, and FCR (p<0.05). Conclusion: Our results therefore demonstrate important roles for UCP3 polymorphisms in growth and feed efficiency that might be used in meat-type chicken breeding programs.

Susceptibility of Lung Cancer with Polymorphisms of CYP1A1, GSTM1, GSTM3, GSTT1 and GSTP1 Genotypes in the Population of Inner Mongolia Region

  • Jiang, Xue-Yan;Chang, Fu-Hou;Bai, Tu-Ya;Lv, Xiao-Li;Wang, Min-Jie;Wang, Guang
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.13
    • /
    • pp.5207-5214
    • /
    • 2014
  • Background: To study the relationship of susceptibility to lung cancer with the gene polymorphisms of CYP1A1, GSTM1, GSTM3, GSTT1, GSTP1 and smoking status in Han and Mongolian populations of Inner Mongolia, an autonomous region of China. Materials and Methods: PCR-RFLP, allele-specific and multiplex PCR were employed to identify the genotypes of CYP1A1, GSTM1, GSTM3, GSTT1 and GSTP1 in a case-control study of 322 lung cancer patients diagnosed by bronchoscopy and 456 controls free of malignancy. Results: There is a significant difference in genotypic frequency of GSTT1 of healthy Mongolian and Han subjects. A statistically prominent association was found between CYP1A1 Msp1 (vt/vt) (OR=4.055, 95%CI:2.107-7.578, p=0.000), GSTM1 (-) (OR=2.290, 95%CI:1.467-3.573, p=0.000) and lung cancer in Mongolians. Similarly, in the Han population, CYP1A1 Msp1 (vt/vt) (OR=3.194, 95%CI:1.893-5.390, p=0.000) and GSTM1 (-) (OR=1.884, 95%CI:1.284-2.762, p=0.001) carriers also had an elevated risk of lung cancer. The smokers were more susceptible to lung cancer 2.144 fold and 1.631 fold than non-smokers in Mongolian and Han populations, respectively. The smokers who carried with CYP1A1 Msp1 (wt/vt+vt/vt), exon7 (Val/Val+Ile /Val), GSTM1 (-), GSTM3 (AB+BB), and GSTT1 (-) respectively were found all to have a high risk of lung cancer. Conclusions: CYP1A1 Msp1 (vt/vt) and GSTM1 (-) are risk factors of lung cancer in Han and Mongolian population in the Inner Mongolia region. The smokers with CYP1A1 Msp1 (wt/vt+vt/vt), CYP1A1 exon7 (Val/Val+Ile /Val), GSTM1 (-), GSTM3 (AB+BB), and GSTT1 (-) genotypes, respectively, are at elevated risk of lung cancer.