• Korean Journal of Medicinal Crop Science
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• v.10 no.3
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• pp.194-199
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• 2002

Extracted genomic DNA from 16 accessions of Codonopsis lanceolata collected from South Korea and the Baekdoo Mt. areas of China were analyzed for their genetic relationships by RAPD. Twenty 10-mer-oligonucleotide primers having reproductive polymorphism were selected for the RAPD analysis. The size of amplified DNA was almost between 125 bp and 2.0 kbp. Sixteen collected Codonopsis lanceolata were analyzed with 20 primers which generated 73(49.3%) polymorphic bands among 148 PCR products. The mean number of polymorphic bands were 7.4 and varied $1{\sim}9$ per primer. It was, thus, demonstrated that RAPD was useful for detecting polymorphism in Codonopsis lanceolata. The range of 1-F value(genetic similarity) was from 0.682 to 0.959. These results indicate variable genetic similarities. By UPGMA (Unweighted Pair Group Method using an Arithmetic average) cluster analysis based on 1-F value, genetic distance among the 16 collected Codonopsis lanceolata was $0.133{\sim}0.400$. It was certainly classified into two groups between collected accessions from Korea and China, and the genetic distance was about 0.281. Both accessions collected from Korea and China showed miner differences, while the genetic relationships of Tonghua Xian and Liuhe Xian from China was farthest with other accessions collected.

• Environmental Analysis Health and Toxicology
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• v.20 no.3 s.50
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• pp.249-258
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• 2005

Blood pressure, obesity and bone mineral density are multifactorial traits influenced by genetic factor. The purpose of this study was to clarify the association between three genetic polymorphisms in the estrogen receptor-$\alpha$ (ER -$\alpha$) gene and essential hypertension in korean population. One hundred and seventy-one people including 90 normotensives and 81 essential hypertentives were recruited. Among genetic polymorphisms studied, the Xba I RFLP in the intron 1 of this gene polymorphism was significantly associated with essential hypertension in women, suggesting the sexual dimorphism in genetic effect (P (<) 0.05). Further studied suggest that a larger sample size of this study are needed.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.12
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• pp.7577-7581
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• 2013

The interleukin-18 promoter -607C>A gene polymorphism may be related to nasopharyngeal carcinoma (NPC) risk but the results of individual studies remain conflicting. A meta-analysis including 1,886 subjects from five individual studies was therefore performed to provide a more accurate estimation. Pooled odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were evaluated by fixed- or random-effects models. A significant relationship between interleukin-18 promoter -607C>A gene polymorphism and NPC was found in a dominant genetic model (OR: 1.351, 95% CI: 1.089-1.676, P=0.006, $P_{heterogeneity}$=0.904), a homozygote model (OR: 1.338, 95% CI: 1.023-1.751, P=0.034, $P_{heterogeneity}$=0.863), and a heterozygote model (OR: 1.357, 95% CI: 1.080-1.704, P=0.009, $P_{heterogeneity}$=0.824). No significant association was detected in either an allelic genetic model (OR: 1.077, 95% CI: 0.960-1.207, 0.207, $P_{heterogeneity}$=0.844) or a recessive genetic model (OR: 1.093, 95% CI: 0.878-1.361, P=0.425, $P_{heterogeneity}$=0.707). In conclusion, a significant association was found between interleukin-18 promoter -607C>A gene polymorphism and NPC risk. Individuals with the C allele of interleukin-18 promoter -607C>A gene polymorphism have a higher risk of NPC development.

• Korean Journal of Biological Psychiatry
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• v.11 no.2
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• pp.146-154
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• 2004

Objective:Attention deficit hyperactivity disorder(ADHD) is the most common childhood psychiatric disorder, affecting 3-5% of school-aged children. Although the biological basis of ADHD is unknown, family studies provide strong evidence that ADHD has a genetic basis. Recent genetic studies have suggested associations between ADHD and serotonin 1B(5HT1B) receptor gene G861C polymorphism. The aim of this study is to test for the association between ADHD and 5HT1B receptor gene G861C polymorphism in Korean population. Method:We processed DNA extraction and genotyping. 106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test(TDT) and haplotype-based haplotype relative risk (HHRR). And the ADHD children were compared with 212 age and gender matched normal controls. Results:There was no statistical difference of distributions between ADHD cases and controls. We did not observe any preferential transmission of alleles of 5HT1B receptor gene G861C polymorphism in ADHD. Conclusions:Though there is the possibility of failing to detect small genetic effects, our results show no evidence of an association between ADHD and 5HT1B receptor gene G861C polymorphism in the Korean population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to ADHD.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.13
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• pp.5407-5413
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• 2015

Background: Published data regarding associations between the P275A polymorphism in the macrophage scavenger receptor 1 (MSR1) gene and prostate cancer (PCa) risk are inconclusive. The aim of this study was to comprehensively evaluate the genetic risk of P275A polymorphism in MSR1 gene for PCa. Materials and Methods: A systematic literature search was carried out in Pubmed, Medline (Ovid), Embase, CBM, CNKI, Weipu, and Wanfang databases, covering all available publications (last search was performed on Apr 27, 2015). Statistical analysis was performed using Revman 5.2 and STATA 10.1 software. Results: A total of 5,017 cases and 4,869 controls in 12 case-control studies were included in this meta-analysis. When all groups were pooled, there was no evidence that the P275A polymorphism had a significant association with PCa under dominant (OR=0.93, 95%CI=0.81-1.06, and p=0.28), co-dominant (homogeneous OR=0.97, 95%CI=0.56-1.68, and p=0.92; heterogeneous OR=0.93, 95%CI=0.74-1.15, and p=0.49), recessive (OR=1.10, 95%CI=0.65-1.87, and p=0.73), over-dominant (OR=0.93, 95%CI=0.75-1.15, and p=0.50), and allelic (OR=0.95, 95%CI=0.77-1.16, and p=0.61) genetic models. For stratified analyses by ethnicity and study design, no significant associations were found in the white race, the yellow race, the black race and mixed ethnicity, and the population-based case-control (PCC) and hospital-based case-control (HCC) studies under all genetic models. Conclusions: Based on our meta-analysis, the P275A polymorphism in the MSR1 gene is unlikely to be a risk factor for PCa.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.5
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• pp.2035-2038
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• 2014

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is an important protein involved in the regulation of the immune system. The +49 G/A polymorphism is the only genetic variation in the CTLA-4 gene that causes an amino acid change in the resulting protein. It is therefore the most extensively studied polymorphism among all CTLA-4 genetic variants and contributions to increasing the likelihood of developing cancer are well known in various populations, especially Asians. However, there have hiterto been no data with respect to the effect of this polymorphism on breast cancer susceptibility in our North Indian population. We therefore assayed genomic DNA of 250 breast cancer subjects and an equal number of age-, sex- and ethnicity-matched healthy controls for the CTLA-4 +49 G/A polymorphism but no significant differences in either the gene or allele frequency were found. Thus the CTLA-4 +49 G/A polymorphism may be associated with breast cancer in other Asians, but it appears to have no such effect in North Indians. The study also highlights the importance of conducting genetic association studies in different ethnic populations.

• The korean journal of orthodontics
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• v.53 no.5
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• pp.336-342
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• 2023

Objective: To determine whether the gonial angle on digital panoramic radiographs is associated with vitamin D receptor (VDR) Taql polymorphism. Methods: Genomic DNA samples were collected from the buccal mucosa of patients aged 26-43 years. TaqMan assay for single nucleotide polymorphism genotyping was used to detect the genotype of Taql polymorphism. The gonial angle was measured bilaterally on panoramic radiography. The normal gonial angle was fixed as 121.8°, and it represented the cutoff value for the high gonial angle (HGA) and low gonial angle (LGA) groups. Various genetic models were analyzed, namely dominant (homozygous [AA] vs. heterozygous [AG] + polymorphic [GG]), recessive (AA + AG vs. GG), and additive (AA + GG vs. AG), using the chi-squared test. Results: The reliability of the gonial angle measurement was analyzed using a random sample (26%) of the tests, with the intra-examiner correlation showing an intra-class correlation coefficient of 0.99. The frequencies of the AA, AG, and GG genotypes of rs731236 polymorphism were 40.5%, 41.9%, and 17.6% in the HGA group and 21.8%, 51.0%, and 27.2% in the LGA group, respectively (P = 0.042). A statistically significant difference was observed in the allele frequencies between the two groups (P = 0.011). Moreover, a significant correlation was observed in the dominant genetic model. Conclusions: Taql polymorphism in the VDR gene plays a critical role in the vertical growth of the mandible and decreased gonial angle.

• BMB Reports
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• v.37 no.5
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• pp.552-555
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• 2004

Several studies have demonstrated the importance of angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) polymorphisms in the pathogenesis of hypertension. This study sought to determine the association between the ACE I/D polymorphism and essential hypertension in young Pakistanis. The frequency of the ACE I/D polymorphism was established by a comparative cross-sectional survey of Pakistani patients suffering from essential hypertension and ethnically matched normotensive controls. Samples were collected from tertiary care hospitals in northern Pakistan. Hypertensive individuals were defined as those with a systolic blood pressure > 140 mmHg and/or diastolic blood pressure > 90 mmHg on three separate occasions, or those currently receiving one, or more, anti-hypertensive agents. DNA samples obtained from hypertensive (n=211) and normotensive (n=108) individuals were typed by PCR. The frequency of the ACE I/I genotype was significantly higher in hypertensive patients, aged 20-40 years, than in normotensive controls of the same age group ($\chi^2$ = 4.0, P = 0.041). Whereas no overall significant differences were observed between the I/I, I/D and D/D ACE genotypes (One way ANOVA, F=0.672; P=0.413). The association between the ACE I/I genotype and essential hypertension in individuals aged $\leq$ 40 years suggests that ACE has a role in early onset essential hypertension in Pakistan.

• Asian-Australasian Journal of Animal Sciences
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• v.19 no.6
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• pp.784-788
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• 2006

Microsatellite polymorphism and the genetic relationship were estimated using genotype information of 305 horses from 11 microsatellite loci. The breeds include the indigenous Korean breeds, Korean native horse (102) and Jeju racing horse (56) together with Japan Hokkaido horse (5), Mongolian horse (19), Thoroughbred horse (108), Quarter horse (11) and Przewalskii horse (4). Allelic frequencies, the number of alleles per locus were estimated by direct counting from observed genotype, and genetic variability was computed using the CERVUX software and DISPAN. The number of alleles per locus varied from 6 (HMS6) to 18 (ASB17) with an average value of 10.45 in horse breeds. The expected total heterozygosity ($H_T$) and coefficient of gene differentiation ($G_{ST}$) ranged 0.764-0.921 (the average value was 0.830) and 0.102-0.266 (the average value was 0.180) in horse breeds, respectively. Four populations (Przewalskii horse, Japan Hokkaido horse, Quarter horse, Thoroughbred horse) showed lower heterozygosity than the average value (the average value was 0.710). The expected heterozygosity within breed ($H_S$) and mean no. of observed alleles ranged from $0.636{\pm}0.064$ (Japan Hokkaido horse) to $0.809{\pm}0.019$ (Mongolian horse), and from 2.73 (Przewalskii horse) to 8.27 (Korean native horse), respectively. The polymorphic information content (PIC) ranged from 0.490 (Przewalskii horse) to 0.761 (Mongolian horse) with an average value of 0.637 in horse breeds. The results showed three distinct clusters with high bootstrap support: the Korean native horse cluster (Korean native horse, Mongolian horse), the European cluster (Przewalskii horse, Thoroughbred horse), and other horse cluster (Jeju racing horse, Japan Hokkaido horse, and Quarter horse). A relatively high bootstrap value was observed for the Korean native horse cluster and European cluster (87%), and the Korean native horse and Mongolian horse (82%). Microsatellite polymorphism data were shown to be useful for estimating the genetic relationship between Korean native horse and other horse breeds, and also be applied for parentage testing in those horse breeds.

• Korean Journal of Ichthyology
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• v.21 no.2
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• pp.76-80
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• 2009

Genetic diversity and genetic structure within the Geum River and Mankyung River populations of the Korean endangered Black shinner (Pseudopungtungia nigra) were assessed by amplified fragment length polymorphism (AFLP). AFLP analysis using five primer combinations generated 447 AFLP bands with 64.1% polymorphism (Geum River 74.6% and Mankyung River 53.6%). The heterozygosities within the two populations were calculated to be 0.170 and 0.104, respectively. Their average genetic diversities are 0.240 and 0.147, respectively. The pairwise Fst value (0.150) indicated distinct genetic differentiation between the two populations. A UPGMA dendrogram based on genetic distance among the individuals revealed a division corresponding to geographical regions, with low genetic variation within the Mankyung River population, and low genetic distance (0.026) between the two populations. Consequently, the two populations may have the same genetic origin The Geum River population will be more suitable than the Mankyung River population for conservation plans to increase the population sizes. Genetic and habitat management will be necessary for the Mankyung River population.