• 제목/요약/키워드: genetic association studies

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Association Between the XRCC3 Thr241Met Polymorphism and Cervical Cancer Risk: a Meta-analysis

  • Qin, Ling-Yan;Chen, Xu;Li, Ping;Yang, Zheng;Mo, Wu-Ning
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권11호
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    • pp.6703-6707
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    • 2013
  • Background: Numerous epidemiological studies have been conducted to evaluate the association between variants of the DNA repair gene XRCC3 and cancer risk. Here we focused on one XRCC3 polymorphism and development of cervical cancer, performing a meta-analysis. Methods: The pooled association between the XRCC3 Thr241Met polymorphism and cervical cancer risk was assessed by odds ratios (ORs) and their 95% confidence intervals (95%CIs). Results: A total of 5 case-control studies met the inclusion criteria. The pooled ORs for the total included studies showed no association among homozygotes TT vs. CC: OR=1.93, 95%CI=0.68-5.49, P=0.22; dominant model TT+TC vs. CC: OR=1.37, 95%CI=0.90-2.06, P=0.14; and recessive model TT vs. TC+CC: OR=1.76, 95%CI=0.68-4.55, P=0.25, but might be a slight risk factor for cervical cancer in heterozygote contrast TT vs. CT: OR= 1.33, 95%CI=1.04-1.71, P=0.02. In subgroup analysis, significant associations were found for Asians under all genetic models. Conclusions: Our meta-analysis suggested the XRCC3 Thr241Met polymorphism might not act as a cervical cancer risk factor overall. However, in subgroup analysis, a significant association was found in Asians under all genetic models. The association should be studied with a larger, stratified population, especially for Asians.

G894T and 4a/b Polymorphisms of NOS3 Gene are Not Associated with Cancer Risk: a Meta-analysis

  • Haque, Shafiul;Mandal, Raju K;Akhter, Naseem;Panda, Aditya K;Hussain, Arif;Khan, Saif;Lohani, Mohtashim
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권7호
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    • pp.2929-2937
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    • 2015
  • Endothelial nitric oxide synthase (eNOS or NOS3) produces nitric oxide and genetic polymorphisms of NOS3 gene play significant roles in various processes of carcinogenesis. The results from published studies on the association between NOS3 G894T and NOS3 intron 4 (4a/b) polymorphisms and cancer risk are conflicting and inconclusive. However, i n order to assess this relationship more precisely, a meta-analysis was performed with PubMed (Medline), EMBASE and Google web searches until February 2014 to select all published case-control and cohort studies. Genotype distribution data were collected to calculate the pooled odd ratios (ORs) and 95% confidence intervals (CIs) to evaluate the strength of association. A total of 10,546 cancer cases and 10,550 controls were included from twenty four case-control studies for the NOS3 G894T polymorphism. The results indicated no significant association with cancer risk as observed in allelic (T vs G: OR=1.024, 95%CI=0.954 to 1.099, p=0.508), homozygous (TT vs GG: OR=1.137, 95%CI=0.944 to 1.370, p=0.176), heterozygous (GT vs GG: OR=0.993, 95%CI=0.932 to 1.059, p=0.835), recessive (TT vs GG+GT: OR=1.100, 95%CI=0.936 to 1.293, p=0.249) and dominant (TT+GT vs GG: OR=1.012, 95%CI=0.927 to 1.105, p=0.789) genetic models. Similarly, a total of 3,449 cancer cases and 3,691 controls were recruited from fourteen case-control studies for NOS3 4a/b polymorphism. Pooled results indicated no significant association under allelic (A vs B: OR=0.981, 95%CI=0.725 to 1.329, p=0.902), homozygous (AA vs BB: OR=1.166, 95%CI=0.524 to 2.593, p=0.707), heterozygous (BA vs BB: OR=1.129, 95%CI=0.896 to 1.422, p=0.305), dominant (AA+BA vs BB: OR=1.046, 95%CI=0.779 to 1.405, p=0.763) and recessive (AA vs BB+BA: OR=1.196, 95%CI=0.587 to 2.439, p=0.622) genetic contrast models. This meta-analysis suggests that G894T and 4a/b polymorphisms of NOS3 gene are not associated with increased or decreased risk of overall cancer.

Genetic Studies and Development of Prediction Equations in Jersey${\times}$Sahiwal and Holstein-Friesian${\times}$Sahiwal Half Breds

  • Singh, P.K.;Kumar, Dhirendra;Varma, S.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권2호
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    • pp.179-184
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    • 2005
  • First lactation records (174) of Jersey${\times}$Sahiwal and Holstein Friesian${\times}$Sahiwal half breds under 9 sires maintained at Chandra Shekher Azad University of Agriculture and Technology, Kanpur, Uttar Pradesh, India from 1975-1983, were used to estimate the genetic parameters and to predict herd life milk yield and average milk yield per day of herd life from first lactation traits. The traits included were: age at first calving, first service period, first lactation period, first calving interval, first lactation milk yield, milk yield per day of first calving interval, herd life milk yield, herd life and average milk yield per day of herd life. Most of the production and reproduction traits were found to have positive and significant correlations between them on genetic as well as phenotypic scales. Total twelve regression equations were fitted. The prediction equation of herd life milk yield in both the genetic groups showed linear relationship with AFC, FSP, FLP, FLMY and MY/DCI and was apparent and significant. Similarly, polynomials for milk yield per day of herd life for J${\times}$S and HF${\times}$S half breds also showed linear trend, which was found highly significant. The highest and lowest $R^2$ values were found for FCI and AFC, respectively.

방사선(放射線)이 생쥐생식세포(生殖細胞)에 미치는 영향(影響)에 관(關)한 연구(硏究) (Studies of the Radiation Effects on Mouse Germ Cell)

  • 정규회;천기정;정해원;유병선;이정호
    • Journal of Radiation Protection and Research
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    • 제10권1호
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    • pp.29-40
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    • 1985
  • The objectives of present study is to investigate genetic damage of radiation in mammalian male germ cell and. to establish available screening method for determining genetic hazard by radiation. Several methods were employed to measure the genetic damage of radiation as follows: Sperm head counts, frequency occurrence of sperm with abnormal head shape, fertility, activity of LDH-X, and the induction of unscheduled DNA synthesis (U.D.S.) in male mouse were performed with the passing of time after irradiation by making use of the sequence of event that occurs during spermatogenesis. Sperm head counts and activity of LDH-X in testes were gradually reduced by increased radiation dose and with the passing of the time after irradiation. Frequency occurrence of sperm with abnormal head shape, sterile period, and the induction of unscheduled DNA synthesis were increased by increased radiation dose. It is suggested that since germ cell is a direct reflection of genetic complement, the use of male germ cell is rapid and convenient method for measuring genetic damage by radiation.

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Studies on the Genetic Relationships of Sheep Populations from East and South of Central Asia

  • Sun, W.;Chang, H.;Yang, Z.P.;Geng, R.Q.;Lu, S.X.;Chang, G.B.;Xu, W.;Wang, H.Y.;Ren, Z.J.;Tsunoda, K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제15권10호
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    • pp.1398-1402
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    • 2002
  • Hu sheep was sampled randomly from Huzhou city, Zhejiang province, China. Of the 11 genetic markers from the blood examined by starch-gel and cellulose acetate electrophoresis, polymorphisms in Hu sheep were found for 10 loci, i.e. post-albumin (Po), transferring (Tf), alkaline phosphatase (Alp), leucine aminopeptidase (Lap), arylesterase (Ary-Es), hemoglobin-$\beta$ (Hb-$\beta$)、Xprotein(X-p), carbonic anhydrase (CA), catalase (Cat) and lysine (Ly). The same data except for Po locus were collected from another 14 sheep breeds from China and other countries, in order to ascertain their genetic relationships with one another and with the Hu sheep. The sheep populations from the east and south of Central Asia can be classified into three genetic groups: 'Mongolian sheep', 'South Asian sheep' and 'European sheep'. The Hu sheep belong to the 'Mongolian sheep' group.

Utilization of Elite Korean Japonica Rice Varieties for Association Mapping of Heading Time, Culm Length, and Amylose and Protein Content

  • Mo, Youngjun;Jeong, Jong-Min;Kim, Bo-Kyeong;Kwon, Soon-Wook;Jeung, Ji-Ung
    • 한국작물학회지
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    • 제65권1호
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    • pp.1-21
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    • 2020
  • Association mapping is widely used in rice and other crops to identify genes underlying important agronomic traits. Most association mapping studies use diversity panels comprising accessions with various geographical origins to exploit their wide genetic variation. While locally adapted breeding lines are rarely used in association mapping owing to limited genetic diversity, genes/alleles identified from elite germplasm are practically valuable as they can be directly utilized in breeding programs. In this study, we analyzed genetic diversity of 179 rice varieties (161 japonica and 18 Tongil-type) released in Korea from 1970 to 2006 using 192 microsatellite markers evenly distributed across the genome. The 161 japonica rice varieties were genetically very close to each other with limited diversity as they were developed mainly through elite-by-elite crosses to meet the specific local demands for high quality japonica rice in Korea. Despite the narrow genetic background, abundant phenotypic variation was observed in heading time, culm length, and amylose and protein content in the 161 japonica rice varieties. Using these varieties in association mapping, we identified six, seven, ten, and four loci significantly associated with heading time, culm length, and amylose and protein content, respectively. The sums of allelic effects of these loci showed highly significant positive correlation with the observed phenotypic values for each trait, indicating that the allelic variation at these loci can be useful when designing cross combinations and predicting progeny performance in local breeding programs.

A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population

  • Ham, Seokjin;Roh, Tae-Young
    • Genomics & Informatics
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    • 제12권3호
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    • pp.114-120
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    • 2014
  • Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.

Empirical Statistical Power for Testing Multilocus Genotypic Effects under Unbalanced Designs Using a Gibbs Sampler

  • Lee, Chae-Young
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권11호
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    • pp.1511-1514
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    • 2012
  • Epistasis that may explain a large portion of the phenotypic variation for complex economic traits of animals has been ignored in many genetic association studies. A Baysian method was introduced to draw inferences about multilocus genotypic effects based on their marginal posterior distributions by a Gibbs sampler. A simulation study was conducted to provide statistical powers under various unbalanced designs by using this method. Data were simulated by combined designs of number of loci, within genotype variance, and sample size in unbalanced designs with or without null combined genotype cells. Mean empirical statistical power was estimated for testing posterior mean estimate of combined genotype effect. A practical example for obtaining empirical statistical power estimates with a given sample size was provided under unbalanced designs. The empirical statistical powers would be useful for determining an optimal design when interactive associations of multiple loci with complex phenotypes were examined.

Identification of genetic polymorphisms in FABP3 and FABP4 and putative association with back fat thickness in Korean native cattle

  • Cho, Seo-Ae;Park, Tae-Sung;Yoon, Du-Hak;Cheong, Hyun-Sub;Namgoong, Sohg;Park, Byung-Lae;Lee, Hye-Won;Han, Chang-Soo;Kim, Eun-Mi;Cheong, Il-Cheong;Kim, Hee-Bal;Shin, Hyoung-Doo
    • BMB Reports
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    • 제41권1호
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    • pp.29-34
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    • 2008
  • The aim of this study was to determine whether single nucleotide polymorphisms (SNP) in the beef cattle adipocyte fatty-acid binding protein 3 and 4 (FABP3 and FABP4) genes are associated with carcass weight (CW) and back fat thickness (BF) of beef cattle. By direct DNA sequencing in 24 unrelated Korean native cattle, we identified 20 SNPs in FABP3 and FABP4. Among them, 10 polymorphic sites were selected for genotyping in our beef cattle. We performed SNP, haplotype and linkage disequilibrium studies on 419 Korean native cattle with the 10 SNPs in the FABP genes. Statistical analysis revealed that 220A>G (I74V) and 348+303T>C polymorphisms in FABP4 showed putative associations with BF traits (P=0.02 and 0.01, respectively). Our findings suggest that the polymorphisms in FABP4 may play a role in determining one of the important genetic factors that influence BF in beef cattle.

Genetic Variability Comparison of Wild and Cultured Far Eastern Catfish (Silurus asotus) of Korea using Microsatellite Marker

  • Kim, Jung Eun;Hwang, Ju-Ae;Kim, Hyeong Su;Lee, Jeong-Ho
    • 한국발생생물학회지:발생과생식
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    • 제24권4호
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    • pp.317-325
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    • 2020
  • The Far Eastern catfish (Silurus asotus) is an important commercial freshwater fish in Korea. Investigation of the genetic diversity of wild and cultured domestic catfish groups is essential for the restoration of fishery resources and for increasing local revenue. However, there are relatively few genetic diversity studies on wild and cultured catfish in Korea. In the present study, we analyzed the genetic diversity and association of wild and cultured catfish using five microsatellite markers. We determined that the number of alleles per locus (NA) ranged from 9 to 25, wherein the Jeonbuk catfish demonstrated the highest mean number of alleles per locus and the cultured catfish exhibited the lowest. The average expected heterozygosity (He) of the wild catfish samples was 0.907, and that of the cultured catfish showed was 0.875. The genetic distances (GD value) among populations of all catfish ranged from 0.138 to 0.242. Jeonnam and Jeonbuk wild catfish were located closest to each other, and the cultured group was separated from the other groups. In conclusion, the present study confirmed that the genetic diversity of wild and cultured catfish was maintained at a high level. In the case of the wild group, it is effective in maintaining diversity due to the continuous fry release by the local fish research institute. However, the genetic diversity of cultured catfish declined. Low diversity is associated with slow growth and weakened immunity, and therefore continuous monitoring is necessary.