• Journal of Preventive Medicine and Public Health
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• 제42권6호
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• pp.356-359
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• 2009

In the more than 100 genome wide association studies (GWAS) conducted in the past 5 years, more than 250 genetic loci contributing to more than 40 common diseases and traits have been identified. Whilst many genes have been linked to a trait, both their individual and combined effects are small and unable to explain earlier estimates of heritability. Given the rapid changes in disease incidence that cannot be accounted for by changes in diagnostic practises, there is need to have well characterized exposure information in addition to genomic data for the study of gene-environment interactions. The case-control and cohort study designs are most suited for studying associations between risk factors and occurrence of an outcome. However, the case control study design is subject to several biases and hence the preferred choice of the prospective cohort study design in investigating geneenvironment interactions. A major limitation of utilising the prospective cohort study design is the long duration of follow-up of participants to accumulate adequate outcome data. The GWAS paradigm is a timely reminder for traditional epidemiologists who often perform one- or few-at-a-time hypothesis-testing studies with the main hallmarks of GWAS being the agnostic approach and the massive dataset derived through large-scale international collaborations.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.1-10
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• 2020

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS has diverse clinical aspects in addition to those diagnostic criteria including increased risk for cardiovascular diseases, metabolic syndrome, dyslipidemia, type 2 diabetes and impaired fertility. Because of the heterogeneity of the disease, the pathogenesis of the disease has not been elucidated yet. Therefore, there is no cure for the endocrinopathy. HA and insulin resistance (IR) has been considered two major pillars of the pathogenesis of PCOS. Recent advances in animal studies revealed the critical role of neuroendocrine abnormalities in developing PCOS. Several pathways related to neuroendocrine origin have been investigated such as hypothalamus pituitary ovarian axis, hypothalamus pituitary adrenal axis and hypothalamus pituitary adipose axis. This review summarizes the current knowledge about the role of HA and IR in developing PCOS. In addition, we review the results of recent genome wide association studies for PCOS. This new perspective improves our understanding of the role of neuroendocrine origins in PCOS and suggest a novel potential therapeutic target for the treatment of PCOS.

• 농업과학연구
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• 제46권1호
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• pp.27-31
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• 2019

It is well documented that intensive selection in dairy cattle for economic value such as increased milk yield led to a decline in reproductive performance. Recent studies using genome-wide association studies (GWASs) discovered candidate genes involved in the lower fertility including embryo development and conception rates. However, the information, which showed a lower reproductive performance, is limited to dairy cattle, especially Holstein, and the candidate genes were not examined in the Korean native cattle Hanwoo which has been intensively selected and bred for meat in the last few decades. We selected the candidate genes WBP1 and PARM1 reported to be associated with cow and/or heifer conception in dairy cattle and analyzed the genotype because those genes have non-synonymous single nucleotide polymorphisms (SNPs). To determine the single base change, we used the high resolution melting (HRM) assay which is rapid and cost-effective for a small number of genes. We found that most heifers with higher conception (1: service per conception) have the AA genotype coding Threonine rather than Proline in the WBP1 gene. We did not detect an association for a SNP in PARM1 in our analysis. In conclusion, the genetic variation of WBP1 can be used as a selective marker gene to improve reproductive performance, and HRM assay can be used to identify common SNP genotypes rapidly and cost effectively.

• KSII Transactions on Internet and Information Systems (TIIS)
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• 제16권3호
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• pp.1028-1046
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• 2022

Genome-wide association studies (GWAS) aim to find the significant genetic variants for common complex disease. However, genotype data has privacy information such as disease status and identity, which make data sharing and research difficult. Differential privacy is widely used in the privacy protection of data sharing. The current differential privacy approach in GWAS pays no attention to raw data but to statistical data, and doesn't achieve equilibrium between utility and privacy, so that data sharing is hindered and it hampers the development of genomics. To share data more securely, we propose a differential privacy preserving approach of data sharing for GWAS, and achieve the equilibrium between privacy and data utility. Firstly, a reasonable disturbance interval for the genotype is calculated based on the expected utility. Secondly, based on the interval, we get the Nash equilibrium point between utility and privacy. Finally, based on the equilibrium point, the original genotype matrix is perturbed with differential privacy, and the corresponding random genotype matrix is obtained. We theoretically and experimentally show that the method satisfies expected privacy protection and utility. This method provides engineering guidance for protecting GWAS data privacy.

• Asian-Australasian Journal of Animal Sciences
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• 제12권7호
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• pp.1142-1151
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• 1999

Today, laboratory animal production has decreased world-wide to half the number estimated in 1970 of more than 100 Mio. This is due to the cell-biological assays which replaced animal experimentation as a first allround method to solve biomedical problems. Animal experimentation remains the most significant experimental method for the study of higher organized physiological systems and their multifactorial connections. This requires maximal uniformity of all quantitative traits among the animals used for such studies (mainly mice and rats) and stability of these traits for reproducing such studies at any time world-wide. The success of the developed methods for the standardization of laboratory animals was analyzed and were found only partly be acceptable. Getting a higher degree of uniformity among standardized inbred animals is blocked by "intangible variance". This is caused by influences of ooplasm, shown by experimental twin and clone studies. Manipulation of this component of variance is essential in the future. - Genetic drifts impair the necessary stability of biological traits. There are a few disadvantages associated with the cryopreservation of embryos and other methods are required. - Dogs and cats were replaced by pigs as laboratory animals. A new line of animal production will evolve over the next 25 years with similarities to the present laboratory animal production, because in future pigs were used as donors for xenotransplants for men.

• Asian-Australasian Journal of Animal Sciences
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• 제21권1호
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• pp.1-5
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• 2008

To analyze genetic effects on milk production traits, 164 unrelated Italian Jersey cows reared in 15 farms located in Southern Italy were characterized at the growth hormone locus. Using a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism protocol all three possible genotypes for the Leucine/Valine polymorphism were identified even if in the considered population the number of homozygous animals (Leucine/Leucine = 36; Valine/Valine = 28) was smaller than Leucine/Valine (n = 100) cows; the Hardy-Weinberg equilibrium was verified. Statistical analysis showed that daily milk yield in the Leucine/Leucine genotype was higher (p<0.01) than in Leucine/Valine (22.76 kg vs. 16.96 kg ); cows with Leucine/Valine genotype differed significantly from Leucine/Leucine and Valine/Valine genotypes particularly in fat (4.95% vs. 4.13% and 4.82%, respectively) and protein content (4.00% vs. 3.47% and 3.79%, respectively). No significant effect on lactation length was observed.

• 식품보건융합연구
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• 제9권2호
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• pp.1-6
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• 2023

As oil palm trees are an important economic source in many countries, particularly in Southeast Asia and Africa, the study of Ganoderma boninense is crucial for the sustainability of the oil palm industry. This study aims to understand the biology and ecology of the fungus, its pathogenesis, and the impact it has on oil palm trees. This knowledge can be used to develop management strategies to mitigate the damage caused by the fungus, such as the use of resistant varieties, chemical and biological control methods, and cultural practices. This study is to ensure the long-term productivity and sustainability of the oil palm industry. The main method of recent academic studies on this pathogen is molecular biology, with a focus on genetic analysis and functional genomics. Researchers have used techniques such as PCR, DNA sequencing, and transcriptomics to identify genes and pathways involved in pathogenesis and better understand the fungus's interactions with its host plant. Other methods used in recent studies include biochemical analysis, microscopy, and phytohormonal assays to investigate the biochemistry and physiology of the interaction between G. boninense and oil palm. This study is intended to provide implications from a new perspective by organizing and integrating studies on Ganoderma boninense.

• 한국환경성돌연변이발암원학회지
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• 제22권3호
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• pp.183-186
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• 2002

Hypertension is a multifactorial disease. Both genetic and environmental factors have been implicated in its etiology. Since the impairment of nitric oxide (NOS) production plays an important role in the pathogenesis of hypertension, endothelial nitric oxide synthase (ecNOS) gene is supposed to be a candidate gene of hypertension. Our study group investigated the 27 bp insertion/deletion (Ins/Del) polymorphism of ecNOS gene in 99 Korean normotensives and 98 hypertensives, respectively. There was no significant association with any cardiovascular risk factors as well as hypertension in Koreans. The Ins/Del polymorphism of the ecNOS gene indicated the similar allele distribution among ethnic groups studied. Further studies using larger sample size and subject information is required to describe the general picture of the association between the ecNOS gene polymorphic loci and hypertension

• Genomics & Informatics
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• 제6권1호
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• pp.1-7
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• 2008

The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제20권1호
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• pp.3-9
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• 2009

Objectives : Tourette disorder is known to be a disease with a strong genetic trait. There has been some recent research on the relationship between the allelic frequency distribution and Tourette disorder. In Korea, the relationship between the genetic type and the alleles for the COMT gene has been studied in Tourette patients. Methods : Seventy two patients who were diagnosed with Tourette disorder according to the DSM-IV diagnostic criteria were selected for this study. The diagnosis and clinical features were confirmed by the Yale Global Tic Severity Scale. For the control group, the parents of the patients were chosen. Blood samples were taken from the 289 subjects. DNA was extracted from the blood lymphocytes and PCR was performed for assessing COMT gene. Results : On comparing the Tourette disorder transmitted group and the not-transmitted group, no significant difference was seen between the COMT genetic type and the allelic distribution. Conclusion : Even though this result is viewed that there is no relationship between Tourette disorder and the COMT gene, it is difficult to firmly accept this negative result. Follow up studies with a larger patient population or pure subgroups are expected in the future.