• Asian-Australasian Journal of Animal Sciences
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• v.18 no.2
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• pp.151-157
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• 2005

Sheep production is affected by genetic and non-genetic factors. A knowledge of these factors is essential for efficient management and for the accurate estimation of breeding values. The objective of this study was to establish the non-genetic factors which affect birth weight and weaning weight in Dorper, Mutton Merino and indigenous Sabi sheep breeds. A total of 2,625 birth and weaning weight records from Grasslands Research Station collected from 1991 through 1993, were used. The records were collected from indigenous Sabi (939), Dorper (807) and Mutton Merino (898) sheep. A mixed classification model containing the fixed effects of year, birth status and sex was used for identification of non-genetic factors. Sire within breed was included as a random effect. Two factor interactions and three factor interactions were important in indigenous Sabi, Mutton Merino and Dorper sheep. The mean birth weights were 4.37${\pm}$0.04 kg, 4.62${\pm}$0.04 kg and 3.29${\pm}$0.04 kg for Mutton Merino, Dorper and Sabi sheep, respectively. Sire had significant effects (p<0.05) on birth weight in Mutton Merino and indigenous Sabi sheep. Year of lambing had significant effects (p<0.05) on birth weight in indigenous Sabi, Mutton Merino and Dorper sheep. The effect of birth status was non significant in Dorper and Mutton Merino sheep while effect of birth status was significant on birth weight in indigenous Sabi sheep. In Indigenous Sabi sheep lambs born as singles (3.30${\pm}$0.05 kg) were 0.23 kg heavier than twins (3.07${\pm}$0.05 kg), in Mutton Merino lambs born as singles (3.99${\pm}$0.08 kg) were 0.07 kg heavier than twins (3.92${\pm}$0.08 kg) and in Dorper lambs born as singles (4.41${\pm}$0.04 kg) were 0.02 kg heavier than twins (4.39${\pm}$0.04 kg). On average males were heavier than females (p<0.05) weighing (3.32${\pm}$0.04 kg vs. 3.05${\pm}$0.07 kg) in indigenous Sabi, 4.73${\pm}$0.03 kg vs. 4.08${\pm}$0.05 in Dorper and 4.26${\pm}$0.07 kg vs. 3.66${\pm}$0.09 kg in Mutton Merino sheep. Two way factor interactions of sire*year, year*sex and sex*birth status had significant effects (p<0.05) on birth weight in indigenous Sabi, Mutton Merino and Dorper sheep while the effect of year*birth status was non significant on birth weight in Indigenous Sabi sheep. The three way factor interaction of year*sex*birth status had a significant effect (p<0.01) on birth weight in indigenous Sabi and Mutton Merino. Tupping weight fitted as a covariate had significant effects (p<0.001) on birth weight in indigenous Sabi, Mutton Merino and Dorper sheep. The mean weaning weights were 17.94${\pm}$0.31 kg, 18.19${\pm}$0.28 kg and 14.39${\pm}$0.28 kg for Mutton Merino, Dorper and Indigenous Sabi sheep, respectively. Effects of sire and sire*year were non significant on weaning weight in Dorper and Mutton Merino while year, sex and sex*year interaction had significant effects (p<0.001) on weaning weight. On average males were heavier than females (p<0.001) at weaning. The respective weaning weights were 18.05${\pm}$0.46 kg, 18.68${\pm}$0.19 kg, 14.14${\pm}$0.15 kg for males and 16.64${\pm}$0.60 kg, 16.41${\pm}$0.31 kg, 12.64${\pm}$0.32 kg for females in Mutton Merino, Dorper and Indigenous Sabi sheep. Lambs born as singles were significantly heavier at weaning than twins, 0.05 kg, 0.06 kg and 0.78 kg for Mutton Merino, Dorper and Indigenous Sabi sheep, respectively. Effect of tupping weight was highly significant on weaning weight. The three way factor interaction year*sex*birth status had a significant effect (p<0.01) on weaning weight. Correction for environmental effects is necessary to increase accuracy of direct selection for birth weight and weaning weight.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

• Journal of Ginseng Research
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• v.41 no.1
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• pp.43-51
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• 2017

Background: BIOGF1K, a compound K-rich fraction prepared from the root of Panax ginseng, is widely used for cosmetic purposes in Korea. We investigated the functional mechanisms of the anti-inflammatory and antioxidative activities of BIOGF1K by discovering target enzymes through various molecular studies. Methods: We explored the inhibitory mechanisms of BIOGF1K using lipopolysaccharide-mediated inflammatory responses, reporter gene assays involving overexpression of toll-like receptor adaptor molecules, and immunoblotting analysis. We used the 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay to measure the antioxidative activity. We cotransfected adaptor molecules, including the myeloid differentiation primary response gene 88 (MyD88) and Toll/interleukin-receptor domain containing adaptor molecule-inducing interferon-${\beta}$ (TRIF), to measure the activation of nuclear factor (NF)-${\kappa}B$ and interferon regulatory factor 3 (IRF3). Results: BIOGF1K suppressed lipopolysaccharide-triggered NO release in macrophages as well as DPPH-induced electron-donating activity. It also blocked lipopolysaccharide-induced mRNA levels of interferon-${\beta}$ and inducible nitric oxide synthase. Moreover, BIOGF1K diminished the translocation and activation of IRF3 and NF-${\kappa}B$ (p50 and p65). This extract inhibited the upregulation of NF-${\kappa}B$-linked luciferase activity provoked by phorbal-12-myristate-13 acetate as well as MyD88, TRIF, and inhibitor of ${\kappa}B$ ($I{\kappa}B{\alpha}$) kinase ($IKK{\beta}$), and IRF3-mediated luciferase activity induced by TRIF and TANK-binding kinase 1 (TBK1). Finally, BIOGF1K downregulated the NF-${\kappa}B$ pathway by blocking $IKK{\beta}$ and the IRF3 pathway by inhibiting TBK1, according to reporter gene assays, immunoblotting analysis, and an AKT/$IKK{\beta}$/TBK1 overexpression strategy. Conclusion: Overall, our data suggest that the suppression of $IKK{\beta}$ and TBK1, which mediate transcriptional regulation of NF-${\kappa}B$ and IRF3, respectively, may contribute to the broad-spectrum inhibitory activity of BIOGF1K.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.7
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• pp.2713-2717
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• 2015

Background: Possible associations between the single nucleotide polymorphism (SNP) rs8034191 in the aminoglycosidephosphotransferase domain containing 1 (AGPHD1) gene and lung cancer risk have been studied by many researchers but the results have been contradictory. Materials and Methods: A computerized search for publications on rs8034191 and lung cancer risk was performed. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association between rs8034191 and lung cancer risk with 13 selected case-control studies. Sensitivity analysis, test of heterogeneity, cumulative meta-analysis, and assessment of bias were also performed. Results: A significant association between rs8034191 and lung cancer susceptibility was found using the dominant genetic model (OR=1.344, 95% CI: 1.285-1.406), the additive genetic model (OR=1.613, 95% CI: 1.503-1.730), and the recessive genetic model (OR=1.408, 95% CI: 1.319-1.503). Moreover, an increased lung cancer risk was found with all genetic models after stratification of ethnicity. Conclusions: The association between rs8034191 and lung cancer risk was significant using multiple genetic models, suggesting that rs8034191 is a risk factor for lung cancer. Further functional studies of this polymorphism and lung cancer risk are warranted.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.3
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• pp.299-303
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• 2012

Inbreeding is the mating of relatives that produce progeny having more homozygous alleles than non-inbred animals. Inbreeding increases numbers of recessive alleles, which is often associated with decreased performance known as inbreeding depression. The magnitude of inbreeding depression depends on the level of inbreeding in the animal. Level of inbreeding is expressed by the inbreeding coefficient. One breeding goal in livestock is uniform productivity while maintaining acceptable inbreeding levels, especially keeping inbreeding less than 20%. However, in closed herds without the introduction of new genetic sources high levels of inbreeding over time are unavoidable. One method that increases selection response and minimizes inbreeding is selection of individuals by weighting estimated breeding values with average relationships among individuals. Optimum genetic contribution theory (OGC) uses relationships among individuals as weighting factors. The algorithm is as follows: i) Identify the individual having the best EBV; ii) Calculate average relationships ($\bar{r_j}$) between selected and candidates; iii) Select the individual having the best EBV adjusted for average relationships using the weighting factor k, $EBV^*=EBV_j(1-k\bar{{r}_j})$ Repeat process until the number of individuals selected equals number required. The objective of this study was to compare simulated results based on OGC selection under different conditions over 30 generations. Individuals (n = 110) were generated for the base population with pseudo random numbers of N~ (0, 3), ten were assumed male, and the remainder female. Each male was mated to ten females, and every female was assumed to have 5 progeny resulting in 500 individuals in the following generation. Results showed the OGC algorithm effectively controlled inbreeding and maintained consistent increases in selection response. Difference in breeding values between selection with OGC algorithm and by EBV only was 8%, however, rate of inbreeding was controlled by 47% after 20 generation. These results indicate that the OGC algorithm can be used effectively in long-term selection programs.

• Asian-Australasian Journal of Animal Sciences
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• v.33 no.4
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• pp.525-530
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• 2020

Objective: The purpose of this study was i) to identify the characteristics of carcass traits in Chikso by gender, region, age at slaughter, and coat color using the carcass data collected from the nationwide pedigree information and coat color investigation, and ii) to estimate genetic parameters for breed improvement. Methods: A linear model was used to analyze the environmental effects on the carcass traits and to estimate genetic parameters. Analysis of variance was performed using TYPE III sum of squares for the unbalanced data provided by the general linear model procedure. Variance components for genetic parameters was estimated using REMLF90 of the BLUPF90 family programs. Results: Phenotypic performance of carcass weight (CW), eye muscle area (EMA), and backfat thickness (BF) in Chikso were lower than those of Hanwoo. This is a natural outcome because Hanwoo have undergone significant efforts for improvement at the national level, a phenomenon not observed in Chikso. Another factor influencing the above outcome was the smaller population size of Chikso compared to that of Hanwoo's. The heritabilities of CW, EMA, BF, and marbling score in Chikso were estimated as 0.50, 0.37, 0.35, and 0.53, respectively, which were was higher than those of Hanwoo. Conclusion: Based on the genetic parameters that were estimated in this study, it is expected that the carcass traits will improve when the livestock research institutes at each province conduct small-scale performance tests and the semen is provided to farmers after selecting proven bulls using the state-of-art selection technique such as genomic selection.

• Journal of Korean Biological Nursing Science
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• v.25 no.1
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• pp.73-85
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• 2023

Purpose: This study focused on identifying the interaction effects of genetic and lifestyle-environmental factors on the development of type 2 diabetes mellitus (T2D). Methods: Study subjects were selected from the Korean Genome and Epidemiology Study (KoGES) from 2001 to 2014. Data on genetic variations, anthropometric measurements, biochemical data, and seven lifestyle factors (diet, physical activity, alcohol drinking, smoking, sleep, depression, and stress) were obtained from 4,836 Koreans aged between 40 and 59 years, including those with T2D at baseline (n = 1,209), newly developed T2D (n= 1,298) and verified controls (n = 3,538). The genetic risk score (GRS) was calculated by using 11 single-nucleotide polymorphisms (SNPs) related to T2D development and the second quartile was used as the reference category. A Cox proportional hazards regression model was used to evaluate the associations of GRS and lifestyle factors with T2D risk, controlling for covariates. Results: Multivariate regression analysis revealed that GRS was the strongest risk factor for T2D, and body mass index (BMI), smoking, drinking, and spicy food preference also increased the risk. Lifestyle/environmental factors that showed significant interactions with GRS were BMI, current smoking, current drinking, fatty food preference, and spicy food preference. Conclusions: Interactions between genetic factors and lifestyle/environmental factors were associated with an increased risk of T2D. The results will be useful to provide a new perspective on genetic profiling for the earlier detection of T2D risk and clues for personalized interventions, which might be more effective prevention strategies or therapies in individuals with a genetic predisposition to T2D.

• Genomics & Informatics
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• v.21 no.3
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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.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.78-83
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• 2012

Purpose: The aim of this nested case-control study was to investigate the association between hepatocyte growth factor (HGF) concentrations in maternal plasma and the risk of developing preeclampsia. Materials and Methods: Plasma HGF concentration were measured in 52 women who subsequently developed preeclampsia and 104 normal pregnant women at the time of genetic amniocentesis (15-20 weeks) by enzyme-linked immunosorbent assay. Results: Maternal plasma HGF concentrations were significantly higher in women with subsequent preeclampsia (median: 737.8 ng/mL vs. 670.4 ng/mL, P=0.003) than in normal controls. However, HGF concentrations were not significantly different between subgroups by preeclamptic complications. After adjusting for potential confounding factors, women with HGF concentrations ${\geq}702.5ng/mL$ had a 3.2-fold increased risk (95% CI 2.7-5.4, P<0.001) of subsequent development of preeclampsia compared with women with HGF concentrations <702.5 ng/mL. Conclusion: Elevated maternal plasma HGF concentrations in the early second-trimester are associated with an increased risk of developing preeclampsia.

• Korean Journal of Biological Psychiatry
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• v.13 no.3
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• pp.162-169
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• 2006

Objective : Since some studies have shown that the brain-derived neurotrophic factor(BDNF) has an important role in the pathophysiology of depression, this study investigated the relationship between BDNF genetic polymorphism and the long-term outcome of the antidepressant treatment. Method : One hundred and eight patients with major depressive disorder were evaluated for the long-term outcome(up to 3 years) of antidepressant treatment. The severity and improvement of depression were assessed with the Clinical Global Impression(CGI) Scale. The genotypes of BDNF 196A/G polymorphism in the patients were determined using Restriction Fragment Length Polymorphism(RFLP). Result : The genotypes of 128 patients were investigated and 95 patients of those have been evaluated for 3 years. No significant differences were noted comparing three-genotype groups for CGI scales at baseline, 4 weeks, 8 weeks, 1 year, 2 years and 3 years. Conclusion : This result shows that BDNF polymorphism investigated in this study was not associated with the long-term outcome of the antidepressant treatment. However, further studies with another BDNF polymorphism should be needed.