• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7357-7362
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• 2014

Interleukin-6 (IL-6), a central proinflammatory cytokine, maintains immune homeostasis and also plays important roles in cervical cancer. Therefore, we aimed to evaluate any associations of IL-6 gene polymorphisms at positions -174 and -572 with predisposition to cervical cancer in a Chinese population. The present hospital-based case-control study comprised 518 patients with cervical cancer and 518 healthy controls. Polymorphisms of the IL-6 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Patients with cervical cancer had a significantly higher frequency of the IL-6 -174 CC genotype [odds ratio (OR) =1.52, 95% confidence interval (CI) = 1.06-2.19; p=0.02], IL-6 -572 CC genotype (OR =1.91, 95% CI = 1.16-3.13; p=0.01) and IL-6 -174 C allele (OR =1.21, 95% CI = 1.02-1.44; p=0.03) compared to healthy controls. When stratifying by the FIGO stage, patients with III-IV cervical cancer had a significantly higher frequency of IL-6 -174 CC genotype (OR =1.64, 95% CI =1.04-2.61; p=0.04). The CC genotypes of the IL-6 gene polymorphisms at positions -174 and -572 may confer a high risk of cervical cancer. Additional studies with detailed human papillomavirus (HPV) infection data are warranted to validate our findings.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.11
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• pp.1515-1520
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• 2012

Insulin-like growth factor binding protein-3 (IGFBP-3) gene is important for regulation of growth and development in mammals. The present investigation was carried out to study DNA polymorphism by PCR-RFLP of IGFBP-3 gene and its effect on fibre traits of Chinese Inner Mongolian cashmere goats. The fibre traits data investigated were cashmere fibre diameter, combed cashmere weight, cashmere fibre length and guard hair length. Four hundred and forty-four animals were used to detect polymorphisms in the hircine IGFBP-3 gene. A 316-bp fragment of the IGFBP-3 gene in exon 2 was amplified and digested with HaeIII restriction enzyme. Three patterns of restriction fragments were observed in the populations. The frequency of AA, AB and BB genotypes was 0.58, 0.33 and 0.09 respectively. The allelic frequency of the A and B allele was 0.75 and 0.25 respectively. Nucleotide sequencing revealed a C>G transition in the exon 2 region of the IGFBP-3 gene resulting in R158G change which caused the polymorphism. Least squares analysis revealed a significant effect of genotypes on cashmere weight (p<0.0001), cashmere fibre length (p<0.001) and hair length (p<0.05) of the animals. The effect of genotypes on cashmere fibre diameter was not statistically significant (p>0.05). The animals of AB and BB genotypes showed higher cashmere weight, cashmere fibre length and hair length than the animals possessing AA genotype. These results suggested that polymorphisms in the hircine IGFBP-3 gene might be a potential molecular marker for cashmere weight in cashmere goats.

• Journal of Korean Society of Forest Science
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• v.82 no.2
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• pp.166-175
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• 1993

The genetic variation patterns at 23 loci coding for 16 isozymes in eight natural populations of Pinus densiflora for. erects distributed in Kangwon-Kyungbuk region and 17 populations of Pinus densiflora and 13 populations of Pinus thunbergii were compared. The absence of marker alleles specific to P. thunbergii and almost the same allele-frequency distributions to those of P. densiflora did not support the hypothesis that P. densiflora for. erecta is a introgressive hybrid between P. densiflora and P. thunbergii. From the results of the hierarchial analysis of population differentiation using Wright's F statistics(1978), the frequency distributions of single-locus distance coefficients and other genetic analysis (genetic distance, cluster analysis, factor analysis, resin duct analysis), it was concluded that Pinus densiflora for. erecta cannot be treated genetically as a distinct group from other natural populations of P. densiflora.

• Korean Journal of Veterinary Research
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• v.40 no.4
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• pp.683-689
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• 2000

The present study was carried out to investigate the blood markers of Thoroughbred horses (TB) The blood red cell types and blood protein types (biochemical polymorphisms) were tested from 1,125 Thoroughbred horses by serological and electrophoretic procedures, and their phenotypes, gene frequencies, heterozygosity, polymorphic information content values and exclusion probability were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were Aaf(91.7%), Ca(94.7%), K-(94.5%), Ua(75.9%), P-(50.6%), Qabc(82.6%), ALB-BB(67.7%), GC-FF(92.7%), AIB-KK(99.6%), ES-II(77.9%), TF-DF1(23.6%), PI-LL(23.2%), HB-B2B2(73.6%), PGD-FS(45.4%) and genotypes Dcgm/dk(16.9%), Dbcm/cgm(13.6%), Dbcm/dk(11.9%), Dcegmn/cegmn(10.0%), Dcgm/cgm(8.7%) in TB. Alleles observed with high frequency were Aaf(0.796), Ca(0.769), Ddk(0.266), Dcgm(0.261), Dbcm(0.211), K-(0.972), P-(0.710), Qabc(0.565), Q-(0.368), Ua(0.509), $HB^{B2}$(0.858), $PGD^F$(0.634), $ALB^B$(0.825), $GC^F$(0.927), $AIB^K$(0.998), $ES^I$(0.881), $TF^{F1}$(0.346), $TF^D$(0.319), $TF^{F2}$(0.184), $PI^L$(0.479), $PI^N$(0.214), $PI^U$(0.116) in TB. The heterozygosity, polymorphic information content (PIC) and exclusion probability (PE) were calculated. The mean heterozygosity and PIC value were 0.3899 and 0.3375, respectively. The highest heterozygosity and PIC were estimated 0.7834 and 0.7492 in blood group D locus, respectively. The cumulated PE obtained by blood groups and biochemical polymorphisms was 0.9813.

• Genomics & Informatics
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• v.9 no.2
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• pp.69-73
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• 2011

The use of genomic information in genomic selection programs for dairy and beef cattle breeds has become a reality in recent years. In this investigation, we analyzed single-nucleotide polymorphisms (SNPs) for Hanwoo (n=50) and Holstein (n=50) breeds using the Illumina Bovine SNP50 BeadChip to facilitate genomic selection and utilization of the Hanwoo breed in Korea. Analysis of the entire genomes showed different spectra of SNP frequencies for Hanwoo and Holstein cattle. The study revealed a highly significant (p<0.001) difference between Hanwoo and Holstein cattle in minor allele frequency (MAF). The average MAFs were $0.19{\pm}0.16$ and $0.22{\pm}0.16$ for Hanwoo and Holstein, respectively. From the total of 52,337 SNPs that were successfully identified, about 72% and 79% were polymorphic in Hanwoos and Holsteins, respectively. Polymorphic and fixed SNPs were not distributed uniformly across the chromosomes within breeds or between the two breeds. The number of fixed SNPs on all chromosomes was higher in Hanwoo cattle, reflecting the genetic uniqueness of the Hanwoo breed. In general, the rate of polymorphisms detected in these two breeds suggests that the SNPs can be used for different applications, such as whole-genome association and comparative genetic studies, and are a helpful tool in developing breed identification genetic markers.

• Journal of Society of Preventive Korean Medicine
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• v.27 no.2
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• pp.35-48
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• 2023

Objective : We studied prognostic biomarkers discovery for lung cancer based on the pattern identification for the personalized Korean medicine. Methods : Using 30 tissue samples, we performed a whole exome sequencing to examine the genetic differences among three groups. Results : The exome sequencing identified among 23,490 SNPs germline variants, 12 variants showed significant frequency differences between Xu and Stasis groups (P<0.0005). As similar, 18 and 10 variants were identified in analysis for Xu vs. Gentleness group and Stasis vs. Gentleness group, respectively (P<0.001). Our exome sequencing also found 8,792 lung cancer specific variants and among the groups identified 6, 34, and 12 variants which showed significant allele frequency differences in the comparison groups; Xu vs. Stasis, Xu vs. Gentleness group, and Stasis vs. Gentleness group. As a result of PCA analysis, in germline data set, Xu group was divided from other groups. Analysis using somatic variants also showed similar result. And in gene ontology analysis using pattern identification variants, we found genes like as FUT3, MYCBPAP, and ST5 were related to tumorigenicity, and tumor metastasis in comparison between Xu and Stasis. Other significant SNPs for two were responsible for eye morphogenesis and olfactory receptor activity. Classification of somatic pattern identification variants showed close relationship in multicellular organism reproduction, anion-anion antiporter activity, and GTPase regulator activity. Conclusions : Taken together, our study identified 40 variants in 29 genes in association with germline difference of pattern identification groups and 52 variants in 47 genes in somatic cancer tissues.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.476-480
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• 2009

Purpose : The purpose of this study was to investigate the polymorphisms of the TNF-alpha promotor gene, its susceptibility to Kawasaki disease (KD) and to assess whether the TNF-alpha promotor gene polymorphism was related the risk of coronary artery lesions (CALs). Methods : From January 2003 to January 2007, 51 children (30 boys and 21 girls) with KD and 48 children forming an age-matched control group were studied. DNA from the peripheral blood of all the children was sampled, and the DNA polymorphisms of the 5' flanking regions of the TNF-alpha promoter gene at position -308 [guanine (G) to adenine (A)] were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Then, the relationship between KD and the TNF-alpha promotor gene polymorphisms was evaluated. Results : The A allele frequency of the -308 site of the TNF-alpha promotor gene was 17.6% (9/51) for children with KD and 6.8% (3/48) for the control group children, but this result was not statistically significant. Twenty-four patients experienced CALs within 60 days after the onset of symptoms. KD children with TNF-alpha -308 A allele had lower frequencies of CALs (12.5% versus 22.2%, P>0.05). Conclusion : The DNA polymorphism of the -308 site TNF-alpha gene was not associated with susceptibility to KD and a risk of CALs. Multicenter, large-scale randomized controlled trials are needed for further study.

• Journal of Life Science
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• v.19 no.5
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• pp.664-670
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• 2009

The ${\beta}$3-adrenergic receptor (ADRB3) is expressed mainly in visceral adipose tissue and is thought to contribute to lipolysis and the delivery of free fatty acids to the portal vein. This study was aimed at evaluating the association between high-density lipoprotein cholesterol (HDL-C) and ADRB3 genetic polymophisms. A total of 991 healthy examinees who were examined in a university hospital, located in Busan City, between May and December 2006 were enrolled in this study. Height, weight, body mass index, waist circumference, and systolic and diastolic blood pressures of the subjects were examined. Intravenous concentrations of fasting blood glucose, total cholesterol, HDL-C, low-density lipoprotein cholesterol, and triglyceride were also measured. After extracting DNA from the subjects, mutations of the +188T>C (Trp64Arg) of exon 1 and +3893T>C of intron 2 on the ADRB3 gene were genotyped using the single base extension method. We have identified a novel mutation of ADRB3 that is located in intron 2. The frequency of its minor allele was 0.164. Both the +188T>C mutation of exon 1 and +3893T>C mutation of intron 2 were significantly associated with HDL-C. The mean concentration of serum HDL-C was significantly lower in the presence of their minor allele 'C'. These results suggest that both mutations of +188T>C of exon 1 and +3895T>C of intron 2 have significant associations with HDL-C in the Korean population.

• Asian-Australasian Journal of Animal Sciences
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• v.27 no.8
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• pp.1069-1074
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• 2014

In China and South East Asia, the duck (common duck) is important in egg production for human consumption. Plumage color is a breed characteristic and of economic importance, together with egg production. Our aim in this study was to investigate the inheritance of plumage color in three Chinese indigenous egg-type duck breeds, Shan Ma (S), Putian White (F) and Putian black (P), and some of their crossbreds. These three breeds have different plumage color and are used in crossbreeding. The crossbred laying ducks $F{\times}(P{\times}S)$ and $F{\times}(S{\times}P)$ showed highly improved laying ability but heterogeneous plumage color. Genotypes at four relevant loci were investigated by studying down color and pattern in ducklings after crossbreeding. $F_1$ ducklings from the matings $F{\times}S$ and $S{\times}F$, $P{\times}S$, and $S{\times}P$ were classified into four classes of plumage color (the Shan Ma plumage color, black, white, or multicolored) over three generations. Parents were selected for the Shan Ma plumage color of their progeny. In the fourth generation, P male and P female ducks were selected according to the frequency of the desired class of plumage color (Shan Ma) of their $F_1$ progeny to obtain the so-called "Brown Putian Ma duck". The Shan Ma duck genotype was identified as having the restricted mallard color pattern ($M^RM^R$), full expression of any of the patterns or colors (CC), no extended black (ee) and no brown dilution D (D). The Putian White genotype was recessive white (cc), no extended black (ee) and no brown dilution D (D). The Putian Black genotype exhibited full expression of extended black (E gene) and no brown dilution (CCEE D [D]). It was shown that $F{\times}S$ and $S{\times}F$ tests should be implemented to eliminate the recessive white c allele in the S line and the dominant extended black E allele in the F line. It was also shown that the Brown Putian Ma obtained from Putian Black, with no extended black genotype (ee), could be used to get rid of the black plumage (E gene) in the crossbred ducks. This could provide a solution for producing 3-way crossbred ducks Putian $White{\times}$(Putian-$Ma{\times}Shan$ Ma) and Putian $White{\times}$(Shan $Ma{\times}Putian$-Ma), with the desired Shan Ma feather color.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.3
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• pp.327-334
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• 2018

Objective: The objective of the present study was to validate genes and genomic regions associated with carcass weight using a low-density single nucleotide polymorphism (SNP) Chip in Hanwoo cattle breed. Methods: Commercial Hanwoo steers (n = 220) were genotyped with 20K GeneSeek genomic profiler BeadChip. After applying the quality control of criteria of a call rate ${\geq}90%$ and minor allele frequency (MAF) ${\geq}0.01$, a total of 15,235 autosomal SNPs were left for genome-wide association (GWA) analysis. The GWA tests were performed using single-locus mixed linear model. Age at slaughter was fitted as fixed effect and sire included as a covariate. The level of genome-wide significance was set at $3.28{\times}10^{-6}$ (0.05/15,235), corresponding to Bonferroni correction for 15,235 multiple independent tests. Results: By employing EMMAX approach which is based on a mixed linear model and accounts for population stratification and relatedness, we identified 17 and 16 loci significantly (p<0.001) associated with carcass weight for the additive and dominant models, respectively. The second most significant (p = 0.000049) SNP (ARS-BFGL-NGS-28234) on bovine chromosome 4 (BTA4) at 21 Mb had an allele substitution effect of 43.45 kg. Some of the identified regions on BTA2, 6, 14, 22, and 24 were previously reported to be associated with quantitative trait loci for carcass weight in several beef cattle breeds. Conclusion: This is the first genome-wide association study using SNP chips on commercial Hanwoo steers, and some of the loci newly identified in this study may help to better DNA markers that determine increased beef production in commercial Hanwoo cattle. Further studies using a larger sample size will allow confirmation of the candidates identified in this study.