• Genomics & Informatics
• /
• v.21 no.2
• /
• pp.26.1-26.9
• /
• 2023

Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

• Preventive Nutrition and Food Science
• /
• v.20 no.1
• /
• pp.1-7
• /
• 2015

Obesity has become one of the major public health problems all over the world. Recent novel eras of research are opening for the effective management of obesity though gene and nutrient intake interactions because the causes of obesity are complex and multifactorial. Through GWASs (genome-wide association studies) and genetic variations (SNPs, single nucleotide polymorphisms), as the genetic factors are likely to determine individuals' obesity predisposition. The understanding of genetic approaches in nutritional sciences is referred as "nutrigenomics". Nutrigenomics explores the interaction between genetic factors and dietary nutrient intake on various disease phenotypes such as obesity. Therefore, this novel approach might suggest a solution for the effective prevention and treatment of obesity through individual genetic profiles and help improve health conditions.

• Asian-Australasian Journal of Animal Sciences
• /
• v.12 no.6
• /
• pp.843-845
• /
• 1999

To evaluate direct and maternal effects on calf market weight (CMW) and carcass weight (CW) in Japanese Black cattle under an animal model, genetic parameters were estimated using 51,320 records of CMW and 11,944 records of CW, respectively. Direct and maternal heritabilities, and direct-maternal genetic correlation were estimated to be 0.22, 0.06 and 0.27 for CMW, and 0.23, 0.12 and -0.40 for CW, respectively. Correlation coefficient between maternal breeding values for CMW and CW was 0.521 for 157 sires appeared in both CMW and CW data sets. These results suggest that the maternal genetic effect on pre-weaning growth carries over to carcass weight. Maternal breeding values for both calf market weight and carcass weight could be used as the indicator traits of maternal ability in Japanese Black cattle.

• Asian-Australasian Journal of Animal Sciences
• /
• v.21 no.1
• /
• pp.6-10
• /
• 2008

Five chicken populations viz. Chittagong, Ghagus, Kalasthi, Kadaknath, Tellichery were genotyped using 25 highly polymorphic microsatellite loci. White leg horn was taken as an outgroup. To reveal the relationship and distinctiveness among five indigenous breeds various genetic distances based on molecular co-ancestry were estimated and multidimensional scaling was performed. The Ghagus and Kalasthi breeds were closely related and their separation was recent, whereas Chittagong had a remote ancestry with other indigenous chicken populations.

• Korean Journal of Clinical Laboratory Science
• /
• v.56 no.1
• /
• pp.66-72
• /
• 2024

Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.

• KOREAN JOURNAL OF CROP SCIENCE
• /
• v.50 no.4
• /
• pp.262-264
• /
• 2005

A study on genetic variability and association of yield attributing characters with grain yield was carried out using 35 deepwater rice genotypes. High genotypic co-efficient of variation (GCV) was observed for plot yield, $EBT/m^2$, plant height and days to $50\%$ flowering (DFF). For all the traits, estimates of the phenotypic co-efficient of variation (PCV) were higher than GCV, indicating presence of environmental influence. High heritability and genetic advance was observed for plot yield, $EBT/m^2$ and plant height. Plot yield had significant positive association with test weight, $EBT/m^2$ and DFF. However, test weight had the maximum direct effect on grain yield

• The Korean Journal of Applied Statistics
• /
• v.25 no.4
• /
• pp.563-573
• /
• 2012

Various methods of analysis have been proposed to understand the gene-disease relation and gene-gene interaction effect for a disease through comparison of genotype in case-control study. In this study, we proposed the method to detect a genetic association and gene-gene interaction through the use of a network graph and centrality measures that are used in social network analysis. The applicability of the proposed method was studied through an analysis of real genetic data.

• Animal Bioscience
• /
• v.35 no.3
• /
• pp.377-384
• /
• 2022

Objective: This study was conducted to estimate multi-trait genetic parameters for somatic cell score (SCS), milk yield and type traits in Nigerian Dwarf (ND) goats from the United States. Methods: Data from 1,041 ND goats in the United States with kiddings in 95 herds were used to estimate multi-trait genetic parameters for SCS, milk (MILK), fat (FAT), and protein (PROT) yields, and 14 type traits. An 18-trait mixed linear animal model for lactation mean SCS (Log₂), MILK, FAT, PROT, and 14 type traits was applied. A factor analytic approach (FA1) in ASReml software was used to obtain convergence. Results: Averages for SCS were low (2.85±1.29 Log₂), and were 314±110.6, 20.9±7.4, and 14±4.9 kg, respectively, for MILK, FAT, and PROT. Heritabilities for SCS, MILK, FAT, and PROT were 0.32, 0.16, 0.16, and 0.10, respectively. The highest heritabilities for type traits were for stature (0.72), teat diameter (0.49), and rump width (0.48), and the lowest estimates were for dairyness (0.003) and medial suspensory ligament (0.03). Genetic correlations of SCS with MILK, FAT, and PROT were positive but low (0.25, 0.18, and 0.23, respectively). Genetic and phenotypic correlations between MILK, FAT, and PROT were high and positive (≥0.66). Absolute values of genetic correlations involving SCS with type traits were generally low or no different from zero. Most of the phenotypic correlations involving SCS with type traits were low. No serious unfavorable genetic correlations between milk yield traits and SCS or between milk yield traits or SCS and type traits were found. Conclusion: Genetic variation exists in the ND breed for most studied traits. The development of selection programs based on these estimates may help accelerate favorable multi-trait genetic changes in this breed.

• Asian-Australasian Journal of Animal Sciences
• /
• v.22 no.1
• /
• pp.1-6
• /
• 2009

Genetic variability is an important component in the ability of populations to adapt in the face of environmental change. Severe human impacts reduced Muzzafarnagri sheep of India from 500,000 in 1972 to 10,989 in 1973-74. Here we report for the first time the effect of this population decline on levels of genetic variability at 13 FAO recommended ovine microsatellite loci and contrast levels of variability to that in a breed from the same geographical region, which differed in numbers, by an order of magnitude (Marwari sheep). Of the 13 loci, 100% were polymorphic in both breeds. A high degree of genetic variation was observed within populations in terms of both allele diversity (number of alleles per locus, >4) and gene diversity (expected heterozygosity, >0.5), which implied that there is still a substantial amount of genetic diversity at the nuclear loci in a declining population. Nevertheless, overall low number of alleles per locus and relatively less abundance of low frequency alleles in Muzzafarnagri sheep suggested that genetic variability has been comparatively reduced in this population. Bottleneck analysis indicated that a genetic bottleneck did not occur during the most recent decline. In addition, we found that the differentiation among populations was moderate ($F_{ST}$= 11.8%). This study on assessment of genetic effects of the population declines in ovines is a step towards identification of genetically impoverished or healthy populations, which could prove to be a useful tool to facilitate conservation planning in this important species of small ruminants.

• Asian-Australasian Journal of Animal Sciences
• /
• v.25 no.6
• /
• pp.751-757
• /
• 2012

In order to develop specific genetic markers and determine the genetic diversity of Bangladeshi native cattle (Pabna, Red Chittagong) and exotic breeds (Sahiwal), randomly amplified polymorphic DNA (RAPD) analysis was performed using 12 primers. Genomic DNA was extracted from 20 cattle (local and exotic) blood samples and extracted DNA was observed by gel electrophoresis. Among the random primers three were matched and found to be polymorphic. Genetic relations between cattle's were determined by RAPD polymorphisms from a total of 66.67%. Statistical analysis of the data, estimating the genetic distances between cattle and sketching the cluster trees were estimated by using MEGA 5.05 software. Comparatively highest genetic distance (0.834) was found between RCC-82 and SL-623. The lowest genetic distance (0.031) was observed between M-1222 and M-5730. The genetic diversity of Red Chittagong and Sahiwal cattle was relatively higher for a prescribed breed. Adequate diversity in performance and adaptability can be exploited from the study results for actual improvement accruing to conservation and development of indigenous cattle resources.