• Clinical and Experimental Pediatrics
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• 제53권3호
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• pp.273-285
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• 2010

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

• 대한생식의학회:학술대회논문집
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• 대한불임학회 1996년도 추계 학술대회 및 정기총회
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• pp.53.1-53.1
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• 1996

• 대한치과보철학회지
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• 제49권4호
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• pp.341-345
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• 2011

DNA 복제과정에서의 오류(error)에 의한 유전적 변이(genetic variation)를 통해 개개인이 가지고 있는 유전변이형을 조사하고 특정 질환에 대한 감수성의 차이를 밝히는 유전체 연관성 연구가 의학계 전반에 활발히 진행되고 있다. 개인 간의 DNA 상에 존재하는 염기서열의 차이를 보이는 유전적 변이를 통해 개인간의 형질이 다르게 표현 되는 것을 다형성이라고 하는데 다형성의 원인 중 염기 서열 한 쌍의 변이에 의하여 다른 형질로 표현되는 것을 단일염기다형성(Single Nucleotide Polymorphism; SNP)이라고 정의한다. 유전자 분석 기술의 놀랄만한 발전과 컴퓨터를 이용한 분석 프로그램의 개발에 의해 SNP과 질병의 연관성에 관한 연구는 의학계 모든 분야에서 가속화 되고 있다. 최근 급격하게 빨리 진척되는 연구들에 힘입어 특정 질병에 대한 특정 유전자가 가지는 위험도를 분석하고 환자를 유전적 위험도에 따라 분류하여 진단, 예방 및 치료하는 환자 맞춤식의 진료가 모든 의약학 분야에 적용 될 것으로 생각 된다. 치과 영역에서는 충치와 치주 질환과의 관련성에 대해서 초기 단계의 연구가 진행되고 있는 수준이다. 본 종설에서는 유전체 질병 연구의 현황과 치과 영역에서 시작된 연구를 소개 하고자 한다.

• 사상체질의학회지
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• 제32권2호
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• pp.10-21
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• 2020

Objectives Genome-wide association studies(GWAS) is a useful method to identify genetic associations for various phenotypes. The purpose of this study was to develop predictive models for Sasang constitution types using genetic factors. Methods The genotypes of the 1,999 subjects was performed using Axiom Precision Medicine Research Array (PMRA) by Life Technologies. All participants were prescribed Sasang Constitution-specific herbal remedies for the treatment, and showed improvement of original symptoms as confirmed by Korean medicine doctor. The genotypes were imputed by using the IMPUTE program. Association analysis was conducted using a logistic regression model to discover Single Nucleotide Polymorphism (SNP), adjusting for age, sex, and BMI. Results & Conclusions We developed models to predict Korean medicine constitution types using identified genectic factors and sex, age, BMI using Random Forest (RF), Support Vector Machine (SVM), and Neural Network (NN). Each maximum Area Under the Curve (AUC) of Teaeum, Soeum, Soyang is 0.894, 0.868, 0.767, respectively. Each AUC of the models increased by 6~17% more than that of models except for genetic factors. By developing the predictive models, we confirmed usefulness of genetic factors related with types. It demonstrates a mechanism for more accurate prediction through genetic factors related with type.

• 대한의생명과학회지
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• 제21권3호
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• pp.144-151
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• 2015

Development of hypertension is caused by complex contributions of genetic and environmental factors. In spite of the increased understanding of hypertension, genetic factors that contribute to hypertension largely remain elusive. ANO1 gene encoding a calcium-activated chloride channel has recently been reported to affect spontaneous hypertension in the animal model. In this report, we investigated possible association of the ANO1 gene with hypertension in human with ANO1 variants found in Korean population. Fourteen polymorphisms of ANO1 gene were analyzed to be associated with hypertension. Interestingly, the six polymorphisms that showed statistically significant association were all the male subjects. The highest significant SNP was rs7127129 (OR=1.14, CI: 1.02~1.28, additive P=0.023; OR=1.24, CI: 1.03~1.49, dominant P=0.025), and other five SNPs (rs2509153, rs11235473, rs10751200, rs10898827 and rs10899928) were also statistically associated with hypertension. Consequently, we found that the genetic variants of ANO1 present statistically significant associations with hypertension in human, especially, in male. To the best of our knowledge, this study is the first report describing association of genetic polymorphisms of ANO1 with hypertension in human.

• Animal Bioscience
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• 제35권8호
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• pp.1151-1161
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• 2022

Objective: This study was conducted to estimate the association of age at first calving (AFC) with first lactation traits as well as lifetime performance traits in Murrah buffaloes. Methods: Data on first lactation and life time performance of Murrah buffaloes (n = 679), maintained at Indian Council of Agricultural Research-Central Institute for Research on Buffaloes, Hisar, India during the period 1983 through 2017, were deduced to calculate heritability estimates, genetic and phenotypic correlation of different first lactation and lifetime traits. The univariate animal model was fitted to estimate variance components and heritability separately for each trait, while bivariate animal models were set to estimate genetic and phenotypic correlations between traits under study. Results: The heritability was high for first peak milk yield (FPY, 0.64±0.08), moderate for AFC (0.48±0.07) and breeding efficiency (BE 0.39±0.09). High genetic correlations of first lactation total milk yield (FLTMY) with first lactation standard milk yield (FLSMY, 305 days or less), FPY, and first lactation length (FLL) was seen. Likewise, genetic correlation of AFC was positive with FLTMY, FLL, first dry period (FDP), first service period (FSP), first calving interval (FCI), herd life (HL) and productive days (PD). Significant phenotypic correlation of FLTMY was observed with HL, productive life (PL), PD, total lifetime milk yield (LTMY), standard lifetime milk yield (standard LTMY). Moreover, positive genetic and phenotypic correlation of FPY was observed with HL, PL, PD, total LTMY and standard LTMY. Conclusion: This study reports that AFC had positive genetic correlation with FDP, FSP, FCI, and unproductive days while, negative association of AFC was observed with FLSMY, PL, total LTMY, standard LTMY, and BE. This suggests that reduction of AFC would results in improvement of lifetime performance traits.

• Genomics & Informatics
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• 제21권3호
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• pp.33.1-33.11
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• 2023

Type 2 diabetes mellitus (T2DM) is a multifactorial, polygenic, and metabolically complicated disease. A large number of genes are responsible for the biogenesis of T2DM and calpain10 (CAPN10) is one of them. The association of numerous CAPN10 genetic polymorphisms in the development of T2DM has been widely studied in different populations and noticed inconclusive results. The present study is an attempt to evaluate the plausible association of CAPN10 polymorphism SNP-19 (rs3842570) with T2DM and T2DM-related anthropometric and metabolic traits in the Noakhali region of Bangladesh. This case-control study included 202 T2DM patients and 75 healthy individuals from different places in Noakhali. A significant association (p < 0.05) of SNP-19 with T2DM in co-dominant 2R/3R vs. 3R/3R (odds ratio [OR], 2.7; p=0.0014) and dominant (2R/3R) + (2R/2R) vs. 3R/3R (OR, 2.47; p=0.0011) genetic models was observed. High-risk allele 2R also showed a significant association with T2DM in the allelic model (OR, 1.67; p=0.0109). The genotypic frequency of SNP-19 variants showed consistency with Hardy-Weinberg equilibrium (p > 0.05). Additionally, SNP-19 genetic variants showed potential associations with the anthropometric and metabolic traits of T2DM patients in terms of body mass index, systolic blood pressure, diastolic blood pressure, total cholesterol, and triglycerides. Our approach identifies the 2R/3R genotype of SNP-19 as a significant risk factor for biogenesis of T2DM in the Noakhali population. Furthermore, a large-scale study could be instrumental to correlate this finding in overall Bangladeshi population.

• Asian-Australasian Journal of Animal Sciences
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• 제24권8호
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• pp.1031-1040
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• 2011

The objective of this study was to characterize factors influencing genetic improvement of dairy cattle for milk production at farm level. Data were accumulated from 305-day milk yields and pedigree information from 1,921 first-lactation dairy cows that calved from 1990 to 2007 on 161 farms in Central Thailand. Variance components were estimated using average information restricted maximum likelihood procedures. Animal breeding values were predicted by an animal model that contained herd-year-season, calving age, and regression additive genetic group as fixed effects, and cow and residual as random effects. Estimated breeding values from cows that calved in a particular month were used to estimate genetic trends for each individual farm. Within-farm genetic trends (b, regression coefficient of farm milk production per month) were used to classify farms into 3 groups: i) farms with negative genetic trend (b<-0.5 kg/mo), ii) farms with no genetic trend (-0.5 kg/$mo{\leq}b{\leq}0.5$ kg/mo), and iii) farms with positive genetic trend (b>0.5 kg/mo). Questionnaires were used to gather information from individual farmers on educational background, herd characteristics, farm management, decision making practices, and opinion on dairy farming. Farmer's responses to the questionnaire were used to test the association between these factors and farm groups using Fisher's exact test. Estimated genetic trend for the complete population was $0.29{\pm}1.02$ kg/year for cows. At farm level, most farms (40%) had positive genetic trend ($0.63{\pm}4.67$ to $230.79{\pm}166.63$ kg/mo) followed by farms with negative genetic trend (35%; $-173.68{\pm}39.63$ to $-0.62{\pm}2.57$ kg/mo) and those with no genetic trend (25%; $-0.52{\pm}3.52$ to $0.55{\pm}2.68$ kg/mo). Except for educational background (p<0.05), all other factors were not significantly associated with farm group.

• Animal Bioscience
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• 제36권8호
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• pp.1156-1166
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• 2023

Objective: Pork belly is a cut of meat with high worldwide demand. However, although the belly is comprised of multiple muscles and fat, unlike the loin muscle, research on their genetic parameters has yet to focus on a representative cut. To use swine breeding, it is necessary to estimate heritability against pork belly traits. Moreover, estimating genetic correlations is needed to identify genetic relationship among the traditional carcass and meat quality traits. This study sought to estimate the heritability of the carcass, belly, and their component traits, as well as the genetic correlations among them, to confirm whether these traits can be improved. Methods: A total of 543 Yorkshire pigs (406 castrated males and 137 females) from 49 sires and 244 dam were used in this study. To estimate genetic parameters, a total of 12 traits such as lean meat production ability, meat quality and pork belly traits were chosen. The heritabilities were estimated by using genome-wide efficient mixed model association software. The statistical model was selected so that farm, carcass weight, sex, and slaughter season were fixed effects. In addition, its genetic parameters were calculated via MTG2 software. Results: The heritability estimates for the 7th belly slice along the whole plate and its components were low to moderate (0.07±0.07 to 0.33±0.07). Moreover, the genetic correlations among the carcass and belly traits were moderate to high (0.28±0.20 to 0.99±0.31). Particularly, the rectus abdominis muscle exhibited a high absolute genetic correlation with the belly and meat quality (0.73±52 to 0.93±0.43). Conclusion: A moderate to high correlation coefficient was obtained based on the genetic parameters. The belly could be genetically improved to contain a larger proportion of muscle regardless of lean meat production ability.

• Asian-Australasian Journal of Animal Sciences
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• 제22권1호
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• pp.13-19
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• 2009

In the present study, genetic analyses of diversity and differentiation were performed on four breeds of Indian zebu cattle (Bos indicus). In total, 181 animals belonging to Ponwar, Kherigarh, Gangatiri and Kenkatha breeds were genotyped for 20 cattle specific microsatellite markers. Mean number of alleles observed per locus (MNA) varied between 5.75 (Kenkatha) to 6.05 (Kherigarh). The observed and expected heterozygosity for the breeds varied from 0.48 (Gangatiri) to 0.58 (Kherigarh) and 0.65 (Kenkatha) to 0.70 (Kherigarh), respectively. $F_{IS}$ estimates of all the breeds indicated significant deficit of heterozygotes being 28.8%, 25.9%, 17.7% and 17.7% for Gangatiri, Ponwar, Kherigarh and Kenkatha, respectively. The $F_{ST}$ estimates demonstrated that 10.6% was the average genetic differentiation among the breeds. Nei's genetic distance DA and Cavalli- Sforza and Edwards Chord distance ($D_C$) and the phylogenetic tree constructed from these reflected the close genetic relationship of Gangatiri and Kenkatha, whereas Ponwar appears to be more distant.