• Biomedical Science Letters
• /
• v.26 no.3
• /
• pp.238-243
• /
• 2020

Tuberculosis is a global public health problem and manifests itself as a difference in the genetic susceptibility of the host, along with the properties of Mycobacterium tuberculosis (MTB). The single nucleotide polymorphisms (SNPs) and candidate genes proposed in the Genome-wide association study (GWAS) on tuberculosis in a recently published Chinese population were reported. In this study, we investigated whether the genetic polymorphism of candidate genes related to tuberculosis is reproduced when targeting Koreans. The CLCN6 (rs12404124, rs198391, rs535107), DOK7 (rs1203104, rs1203103) and HLA-DRA (rs1051336) gene polymorphisms showed statistically significant results. In addition, it was also found whether it acts as an expression quantitative trait loci (eQTL) that can influence gene expression. This study confirmed that the genetic polymorphism of the three genes (CLCN6, DOK7, HLA-DRA) affects the development of tuberculosis and will help to understand the genetic specificity of tuberculosis and the interaction between pathogens and hosts.

• Journal of Preventive Medicine and Public Health
• /
• v.42 no.6
• /
• pp.356-359
• /
• 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.

• Asian-Australasian Journal of Animal Sciences
• /
• v.15 no.11
• /
• pp.1536-1542
• /
• 2002

The genetic variability of three poultry breeds namely Aseel, Miri and Nicobari taken from different geographical locations of India were evaluated using 15 microsatellite loci. No. of alleles varied from 3 to 9 in Aseel, 3 to 8 in Miri and 2 to 7 in Nicobari. Mean PIC values in Aseel, Miri and Nicobari breeds were 0.64, 0.66 and 0.63, respectively. Average unbiased heterozygosity and direct count heterozygosity were 0.65 and 0.59, 0.68 and 0.61, and 0.64 and 0.57 in Aseel, Miri and Nicobari breeds, respectively. High heterozygosity values revealed in this study are indicative of low level of inbreeding, large population size and no or low selection pressure for commercial trait in all three populations. The estimate of genetic distances using Nei's standard, Nei's minimum and Reynold's distance revealed Aseel and Nicobari to be more closely related than Miri breed of poultry.

• Asian-Australasian Journal of Animal Sciences
• /
• v.15 no.10
• /
• pp.1378-1385
• /
• 2002

The importance of direct genetic, maternal, heterosis and epistatic effects were examined on post-weaning weight, height, length, girth, fat depth and muscle (ratio of stifle to hip width) with dry and wet season gains in these traits. The breeds used were two pure breeds (Jersey and Limousin), the Limousin${\times}$Jersey $F_1$, and two backcrosses ($F_1{\times}$Jersey dams and $F_1{\times}$Limousin dams). Direct genetic effects were large (p<0.001) for all traits except for length. Jersey maternal effects were large for weight, girth, fat depth and muscle in the post-weaning wet season gains which is an evidence of the impact of Jersey dam on progeny beyond weaning. There were large heterosis effects on fat depth and muscle relative to other traits. Epistatic effects were observed for post-weaning performance in weight, girth, fat depth and muscle. There are indications that there were different genetic effects for post-weaning compared to preweaning growth traits. Thus, it could be hypothesized from this study that different quantitative trait loci (QTL) affect early and late growth in Jersey and Limousin cross cattle breeds. The follow up work will examine the different chromosomal gene effects on pre- and post-weaning growth.

• Asian-Australasian Journal of Animal Sciences
• /
• v.15 no.2
• /
• pp.166-171
• /
• 2002

The main objective of the present study is to estimate the crossbreeding parameters in respect to serum lysozyme level in broilers. The experiment involved a complete $4{\times}4$ diallel design using four synthetic broiler lines namely Coloured Synthetic Male Line (CSML), White Synthetic Male Line (WSML), Coloured Synthetic Female Line (CSFL) and Naked Neck Line (NNL). The lyophilised Micrococcus lysodeikticus suspension was used to detect the lysozyme level in the serum of birds. The data were analysed by least-squares method to find the effects of genetic and non-genetic factors using appropriate model. The crossbreeding parameters for this trait were estimated by complete diallel model assuming the effect of each synthetic line as fixed. The results indicated that additive and non-additive genetic variation attributed to minor genes at many loci is important for the genetic control of serum lysozyme level in chickens. Total non-additive components of variance also showed significant amount of heterosis in crossbred progenies, and therefore exploitation of non-additive component of variance is possible for improvement in serum lysozyme level in broilers. The overall results suggested that for commercial broiler production system, the selection for specialised line on the basis of serum lysozyme level and subsequent crossing of parent lines could enhance the immunocompetence status in relation to serum lysozyme level in crossbred chickens.

• Asian-Australasian Journal of Animal Sciences
• /
• v.19 no.12
• /
• pp.1702-1705
• /
• 2006

A simulation study was conducted to evaluate a fine-mapping method exploiting population-wide linkage disequilibrium. Data were simulated according to the pedigree structure based on a large paternal half-sib family population with a total of 1,034 or 2,068 progeny. Twenty autosomes of 100 cM were generated with 5 cM or 1 cM marker intervals for all founder individuals in the pedigree, and marker alleles and a number of quantitative trait loci (QTL) explaining a total of 70% phenotypic variance were generated and randomly assigned across the whole chromosomes, assuming linkage equilibrium between the markers. The founder chromosomes were then descended through the pedigree to the current offspring generation, including recombinants that were generated by recombination between adjacent markers. Power to detect QTL was high for the QTL with at least moderate size, which was more pronounced with larger sample size and denser marker map. However, sample size contributed much more significantly to power to detect QTL than map density to the precise estimate of QTL position. No QTL was detected on the test chromosomes in which QTL was not assigned, which did not allow detection of false positive QTL. For the multiple QTL that were closely located, the estimates of the QTL positions were biased, except when the QTL were located on the right marker positions. Our fine mapping simulation results indicate that construction of dense maps and large sample size is needed to increase power to detect QTL and mapping precision for QTL position.

• Genomics & Informatics
• /
• v.12 no.4
• /
• pp.236-239
• /
• 2014

The genetic regulation of glucose and insulin levels might be modified by adiposity. With regard to the genetic factors that are altered by adiposity, a large meta-analysis on the interactions between genetic variants and body mass index with regard to fasting glucose and insulin levels was reported by the Meta-Analyses of Glucose- and Insulin-related trait Consortium (MAGIC), based on European ancestry. Because no replication study has been performed in other ethnic groups, we first examined the link between reported single-nucleotide polymorphisms (SNPs) and fasting glucose and insulin levels in a large Korean cohort (Korean Genome and Epidemiology Study cohort [KoGES], n = 5,814). The MAGIC study reported 7 novel SNPs for fasting glucose levels and 6 novel SNPs for fasting insulin levels. In this study, we attempted to replicate the association of 5 SNPs with fasting glucose levels and 5 SNPs with fasting insulin levels. One SNP (rs2293941) in PDX1 was identified as a significant obesity-modifiable factor in Koreans. Our results indicate that the novel loci that were identified by MAGIC are poorly replicated in other ethnic groups, although we do not know why.

• International Journal of Industrial Entomology and Biomaterials
• /
• v.20 no.2
• /
• pp.37-43
• /
• 2010

The wild silkworm, Antheraea mylitta Drury (Lepidoptera: Saturniidae) is a polyphagous silk producing insect that feeds on Terminalia arjuna, T. tomentosa and Shorea robusta and is distributed in the forest belts in different states of India. Phenotypically distinct populations of the A. mylitta are called "eco-race" or "ecotypes". Genetic improvement of this wild silkworm has not progressed much due to lack of adequate information on the factors that control the expression of most of the economically important traits. Considering the amazing technological advances taking place in molecular biology, it is envisaged that it is now possible to take greater control on these intractable traits if a combination of genetic, molecular and bioinformatics tools are used. Linkage disequilibrium (LD) mapping is one such approach that has extensively been used in both animal and plant system to identify quantitative trait loci (QTLs) for a number of economically important traits. LD mapping has a number of advantages over conventional biparental linkage mapping. Therefore, LD mapping is considered more efficient for gene discovery to meet the challenge of connecting sequence diversity with heritable phenotypic differences. However, care must be taken to avoid detection of spurious associations which may occur due to population structure and variety interrelationships. In this review, we discuss how LD mapping is suitable for the dissection of complex traits in wild silkworms (Antheraea mylitta).

• Journal of Embryo Transfer
• /
• v.31 no.3
• /
• pp.235-242
• /
• 2016

This study tested the association between genotypes of the single nucleotide polymorphism (SNP) marker, rs81437607 and capric acid (FA_C10_0) compositions in longissimus dorsi muscle in pigs. Eighteen fatty acid (FA) compositions were measured in a total of 974 $F_2$ animals among 1,106 $F_2$ progeny produced between Landrace and Jeju Black Pig (JBP). Among FA compositions tested, we identified a cluster of highly significant SNPs for capric acid compositions on 58 Mb position of Sus scrofa chromosome 12 (SSC12) using genome-wide association study (GWAS) with $F_2$ genotypes from SNP panel analysis. GWAS results showed that the rs81437607 was the highest trait-related SNP marker with capric acid levels. Three genotypes (C/C, C/T and T/T) of rs81437607 marker were found in $F_2$ population by further pyrosequencing. Association analysis results showed the significant differences between rs81437607 genotypes and capric acid compositions (P<0.05). The $F_2$ pigs harboring rs81437607 C/C ($0.119{\pm}0.002%$) and C/T ($0.116{\pm}0.002%$) genotypes showed additively higher levels of capric acid content than those of T/T homozygotes ($0.109{\pm}0.002%$) ($P=1.30{\times}10^{-12}$). These results suggested that the genetic variations of rs81437607 may be helpful to find causative variants and assist as molecular genetic markers for improving the capric acid contents in longissimus dorsi muscle in pigs.

• Asian-Australasian Journal of Animal Sciences
• /
• v.29 no.11
• /
• pp.1555-1561
• /
• 2016

Shank skin color of Korean native chicken (KNC) shows large color variations. It varies from white, yellow, green, bluish or grey to black, whilst in the majority of European breeds the shanks are typically yellow-colored. Three shank skin color-related traits (i.e., lightness [$L^*$], redness [$a^*$], and yellowness [$b^*$]) were measured by a spectrophotometer in 585 progeny from 68 nuclear families in the KNC resource population. We performed genome scan linkage analysis to identify loci that affect quantitatively measured shank skin color traits in KNC. All these birds were genotyped with 167 DNA markers located throughout the 26 autosomes. The SOLAR program was used to conduct multipoint variance-component quantitative trait locus (QTL) analyses. We detected a major QTL that affects $b^*$ value (logarithm of odds [LOD] = 47.5, $p=1.60{\times}10^{-49}$) on GGA24 (GGA for Gallus gallus). At the same location, we also detected a QTL that influences $a^*$ value (LOD = 14.2, $p=6.14{\times}10^{-16}$). Additionally, beta-carotene dioxygenase 2 (BCDO2), the obvious positional candidate gene under the linkage peaks on GGA24, was investigated by the two association tests: i.e., measured genotype association (MGA) and quantitative transmission disequilibrium test (QTDT). Significant associations were detected between BCDO2 g.9367 A>C and $a^*$ ($P_{MGA}=1.69{\times}10^{-28}$; $P_{QTDT}=2.40{\times}10^{-25}$). The strongest associations were between BCDO2 g.9367 A>C and $b^*$ ($P_{MGA}=3.56{\times}10^{-66}$; $P_{QTDT}=1.68{\times}10^{-65}$). However, linkage analyses conditional on the single nucleotide polymorphism indicated that other functional variants should exist. Taken together, we demonstrate for the first time the linkage and association between the BCDO2 locus on GGA24 and quantitatively measured shank skin color traits in KNC.