• Journal of Korean Neurosurgical Society
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• v.64 no.2
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• pp.309-315
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• 2021

Objective : To explore the correlation between the polymorphism of histone deacetylase 9 gene (rs1060499865, rs723296, rs957960) and ischemic stroke (IS) in Chinese Han population in Dali region. Methods : This study included 155 IS patients and 128 healthy physical examinees. TaqMan-polymerase chain reaction technology and multivariate logistic regression were performed. Results : In the case group, there was no polymorphism of rs1060499865 observed in the two groups; whereas on the rs723296 locus the frequencies of C allele and TC genotype were significantly higher than that in the control group, alleles C and T were associated with a 2.158-fold increase in IS risk, and genotypes TC and TT were associated with a 2.269-fold increase in IS risk. The locus rs957960 exhibited no significant difference between the two groups. Conclusion : An association between rs723296 and the risk of IS was found in the Chinese Han population in Dali region. No significant association was found between rs1060499865, rs957960 and IS in the Chinese Han population in Dali region.

• Asian-Australasian Journal of Animal Sciences
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• v.10 no.4
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• pp.428-434
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• 1997

The effect of genetic diversity in sub-populations on breeding efficiency was examined with prospect of potential crossbreeding. Simulation study of selection was performed for 20 generations with 20 replications each, comparing average breeding values and inbreeding coefficients between the two breeding systemes; single population scheme and two population scheme. The different genetic levels were assumed to be caused by different gene frequencies. Phenotypes of two traits generated polygenic effect with additive 36 loci and residuals distributed normally were selected by selection index procedure. High genetic gain with less inbreeding was clearly recognized in the single population scheme, independently of difference in genetic level, economic weight and genetic correlation. Genetic correlation after selection in the single population scheme was lower than the two population scheme. When crossbreeding between the sub-population was taken into account, superiority of the two population scheme was suggested under those restrictions; difference in genetic level is moderate, selection criterion for the two traits is not far from even economic weight, and genetic correlation is positive with low to moderate value. The use of complementarity increased the possibility of the two population scheme.

• Asian-Australasian Journal of Animal Sciences
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• v.17 no.2
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• pp.153-158
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• 2004

Data containing 14,188 lactation and reproductive records of Korean Holstein cows at first parity distributed across 3,734 herd-year-season groups were analyzed to get genetic (co)variance estimates for milk yield, fat yield, calving ease, and days open. Milk and Fat yields were adjusted to 305 d. Heritabilities and genetic correlations were estimated in two different animal models on which were included direct genetic effects (Model 1) and direct+maternal genetic effects (Model 2) using REML algorithms. Milk and fat yields were affected by age at first calving as linear and quadratic. Heritability estimates of direct effects were 0.25 for milk yield, 0.17 for fat yield, 0.03 for calving ease and 0.03 for days open in Model 2. These estimates for maternal effects were 0.05, 0.08, 0.04 and less than 0.01 for each corresponding trait. Milk productions at first lactation were to show genetically favorable correlation with calving ease and days open for direct genetic effects (-0.24 - -0.11). Moreover, calving ease was correlated with days open of 0.30 for direct genetic effects. Correlations between direct and maternal effects for each trait were negatively correlated (-0.63 - -0.32). This study suggested that maternal additive genetic variance would be not ignorable for genetic evaluation of milk production as well as reproductive traits such as calving ease and days open at first parity. Furthermore, difficult calving would genetically influence the next conception.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.19-24
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• 2015

Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders. These include stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia and specific language impairment. Among these disorders, stuttering is the most common speech disorder characterized by disruptions in the normal flow of speech. Twin, adoption, and family studies have suggested that genetic factors are involved in susceptibility to stuttering. For several decades, multiple genetic studies including linkage analysis were performed to connect causative gene to stuttering, and several genetic studies have revealed the association of specific gene mutation with stuttering. One notable genetic discovery came from the genetic studies in the consanguineous Pakistani families. These studies suggested that mutations in the lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG and NAPGA) are associated with non-syndromic persistent stuttering. Although these studies have revealed some clues in understanding the genetic causes of stuttering, only a small fraction of patients are affected by these genes. In this study, we summarize recent advances and future challenges in an effort to understand genetic causes underlying stuttering.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.6
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• pp.2231-2235
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• 2015

Genome-wide association studies (GWASs) of the entire genome provide a systematic approach for revealing novel genetic susceptibility loci for breast cancer. However, genetic association studies have hitherto been primarily conducted in women of European ancestry. Therefofre we here performed a pilot GWAS with a single nucleotide polymorphism (SNP) array 5.0 platform from $Affymetrix^{(R)}$ that contains 443,813 SNPs to search for new genetic risk factors in 89 breast cancer cases and 46 healthy women of Indonesian ancestry. The case-control association of the GWAS finding set was evaluated using PLINK. The strengths of allelic and genotypic associations were assessed using logistic regression analysis and reported as odds ratios (ORs) and P values; P values less than $1.00{\times}10^{-8}$ and $5.00{\times}10^{-5}$ were required for significant association and suggestive association, respectively. After analyzing 292,887 SNPs, we recognized 11 chromosome loci that possessed suggestive associations with breast cancer risk. Of these, however, there were only four chromosome loci with identified genes: chromosome 2p.12 with the CTNNA2 gene [Odds ratio (OR)=1.20, 95% confidence interval (CI)=1.13-1.33, $P=1.08{\times}10^{-7}$]; chromosome 18p11.2 with the SOGA2 gene (OR=1.32, 95%CI=1.17-1.44, $P=6.88{\times}10^{-6}$); chromosome 5q14.1 with the SSBP2 gene (OR=1.22, 95%CI=1.11-1.34, $P=4.00{\times}10^{-5}$); and chromosome 9q31.1 with the TEX10 gene (OR=1.24, 95%CI=1.12-1.35, $P=4.68{\times}10^{-5}$). This study identified 11 chromosome loci which exhibited suggestive associations with the risk of breast cancer among Indonesian women.

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

• Korean Journal of Biological Psychiatry
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• v.25 no.1
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• pp.16-20
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• 2018

Objectives Psychological resilience is the ability to cope with stress. The genetic background behind psychological resilience is not much known. The serotonin transporter and dopamine transporter are implicated in stress related psychology and emotional processing. The aim of this study is to investigate a possible genetic role of functional polymorphisms of serotonin and dopamine transporters for psychological resilience. Methods A total of 951 healthy adult subjects were included. Psychological resilience was measured using Connor-Davidson Resilience Scale (CD-RISC). Genotyping was performed for serotonin transporter gene(SERT) promoter variable number tandem repeat (VNTR) and dopamine transporter gene(DAT1) 3'-untranslated region (UTR) VNTR. Genetic association analysis was conducted between genotypes and the CD-RISC score. Results No genetic association was observed for SERT promoter VNTR or DAT1 3'-UTR VNTR with CD-RISC score. No genetic interaction between SERT promoter VNTR and DAT1 3'-UTR VNTR with CD-RISC score was detected. Conclusions Either serotonin or dopamine transporter did not seem to play a significant role for psychological resilience in this sample.

• Animal Bioscience
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• v.36 no.1
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• pp.29-42
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• 2023

Objective: Pigs, an ideal biomedical model for human diseases, suffer from about 50% early embryonic and fetal death, a major cause of fertility loss worldwide. However, identifying the causal variant remains a huge challenge. This study aimed to detect single nucleotide polymorphisms (SNPs) and candidate genes for the number of mummified (NM) piglets using the imputed whole-genome sequence (WGS) and validate the potential candidate genes. Methods: The imputed WGS was introduced from genotyping-by-sequencing (GBS) using a multi-breed reference population. We performed genome-wide association studies (GWAS) for NM piglets at birth from a Landrace pig populatiGWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase on. A total of 300 Landrace pigs were genotyped by GBS. The whole-genome variants were imputed, and 4,252,858 SNPs were obtained. Various molecular experiments were conducted to determine how the genes affected NM in pigs. Results: A strong GWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase 8 (CDK8) gene, which plays a crucial role in embryonic retardation and lethality. Based on the molecular experiments, we found that Y-box binding protein 1 (YBX1) was a crucial transcription factor for CDK8, which mediated the effect of CDK8 in the proliferation of porcine ovarian granulosa cells via transforming growth factor beta/small mother against decapentaplegic signaling pathway, and, as a consequence, affected embryo quality, indicating that this pathway may be contributing to mummified fetal in pigs. Conclusion: A powerful imputation-based association study was performed to identify genes associated with NM in pigs. CDK8 was suggested as a functional gene for the proliferation of porcine ovarian granulosa cells, but further studies are required to determine causative mutations and the effect of loci on NM in pigs.

• Asian-Australasian Journal of Animal Sciences
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• v.17 no.9
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• pp.1197-1203
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• 2004

This study deals with the characterization of three populations (two hatchery and one natural) of Indian major carps Catla catla and Labeo rohita from different locations in India. The genetics of Indian major carps has been completely obscure and this is the first report on comparative allozyme variations in natural and hatchery population. The total 10 biochemical genetic markers used to measure interspecific and intraspecific level of diversity. The allele frequency data indicate different level of genetic variability in three populations. The hatchery population exhibited least polymorphism, low level of heterozygosity and genetic diversity.

• Genomics & Informatics
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• v.5 no.2
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• pp.56-60
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• 2007

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial birth defect that is the result of a mixture of genetic and environmental factors. While studies have identified a number of different candidate genes and loci for the etiology of CL/P, the results have not been consistent among different ethnic groups. To study the genetic association of the candidate genes in Korean patients affected by CL/P, we genotyped 97 nonsyndromic CL/P patients and 100 control individuals using single nucleotide polymorphic markers at the MTHFR, TGFA, and IRF6 genes. We report that the T3827C marker at TGFA showed significant association with nonsyndromic CL/P, but all the other markers tested were not significantly associated with nonsyndromic CL/P in Korean patients.