• 대한치과교정학회지
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• 제53권5호
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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.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.113-118
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• 2011

목적: Corticotropin-releasing hormone receptor type 1(CRHR1)은 자간전증과 같은 비정상적인 태반의 기능을 가지는 산모에서 감소되어 나타나며, 그것의 발현이나 기능은 유전적으로 영향을 받는다. 이번 연구의 목표는 한국인에서 CRHR1 유전자 다형성인 c.33+8199C>T과 자간전증 사이의 연관성을 조사하는 것이었다. 대상 및 방법: CRHR1 유전자 다형성은 SNapShot kit와 ABI Prism3100 Genetic analyzer를 이용하여 203명의 자간전증 임산부와 211명의 정상 임산부에서 측정되었고, 유전자 다형성과 자간전증 위험도 사이의 연관성을 분석하였다. 결과: CRHR1 유전자 다형성의 유전자형과 대립유전자 빈도는 자간전증 임산부와 정상 임산부 사이에 다르지 않았다. 자간전증 발생 위험도는 분석된 유전자 다형성의 드문 대립 형질(C)을 지닌 이종접합 유전자형(TC)이나 동형접합 유전자형(CC)을 수반하는 그룹에서 증가되지 않았다. CRHR1 유전자의 동형접합 유전자형(CC)을 수반하는 그룹에서 중증 자간전증과 조기 자간전증과 같은 자간전증의 합병증 발병 위험에도 차이가 없었다. 결론: 이 연구는CRHR1 유전자 다형성인 c.33+8199C>T가 한국인 임신부의 자간전증 발생과 연관이 없음을 나타낸다.

• Tuberculosis and Respiratory Diseases
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• 제60권6호
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• pp.638-644
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• 2006

연구배경: 만성 폐쇄성폐 질환(이하 COPD)은 기도의 만성적인 염증이 특징인 질환이다. COPD의 발생에는 흡연 외에도 환경적, 유전적인 인자가 복합적으로 작용 한다. 폐 표면 활성제 단백-A(이하 SP-A)는 급성기 반응물질(acute phase reactant molecule)과 유사한 구조 및 기능을 가진 것으로 연구되어져 폐의 숙주방어와 염증반응에 중요하게 관여하는 것으로 알려졌다. 이에 저자들은 폐에서 염증 반응 및 면역에 관여하는 SP-A와 COPD군과의 유전자 대립형질을 비교분석하여 SP-A가 COPD의 병인에 관여하는 지를 밝히고자 본 연구를 시행하였다. 방 법: 2004년 10월부터 2004년 12월까지 순천향대학교 천안병원 호흡기 내과에서 COPD로 진단되어 치료 받고 있는 환자 19명과, 순천향대학교 천안병원 신생아실에 입원한 정상 신생아 20명을 대조군으로 하여 PCR-cRFLP 방법을 사용하여 아미노산 염기 서열의 차이에 의해 SP-A의 유전자형을 연구 하였다. 결 과: 1) COPD군의 SP-A1 유전자 대립형질은 대조군에 비해 $6A^2$ 와$6A^{18}$ 이 통계적으로 유의하게 높은 빈도를 보였고, $6A^3$, $6A^4$는 낮은 빈도를 보였다. 2) COPD군의 SA-A2 유전자 대립형질 중 $1A^0$ 는 대조군에 비해 통계적으로 낮은 빈도를 보였고, $1A^2$는 대조군에 비해 유의하게 높은 빈도를 보였다. 3) SP-A1의 50번째 nucleotide가 GG인 경우 COPD군에서 통계적으로 의미 있게 높았고, SP-A2의 9번째 nucleotide가 CC인 경우 COPD군에서 통계적으로 의미 있게 높았다. 결 론: 우리나라에서는 SP-A의 특정 대립형질(inducer : $6A^2$, $6A^{18}$, $1A^2$ & protector : $6A^3$, $6A^4$,$1A^0$) 에 차이를 보이는 경우 COPD가 발생될 가능성이 높은 것을 알 수 있었고, 특히 SP-A1의 50번째 염기서열이 GG인 경우와, SP-A2의 9번째 염기서열이 CC인 경우에 COPD 발생 가능성이 높을 것으로 예측된다.

• Asian-Australasian Journal of Animal Sciences
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• 제18권11호
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• pp.1548-1551
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• 2005

The leptin, an anti-obesity protein, is a hormone protein expressed and secreted mainly from adipocyte tissue, and involved in regulation of body weight, food intake and energy metabolism. In an effort to discover polymorphism(s) in genes whose variant(s) might be implicated in phenotypic traits of growth, we have sequenced exons and their boundaries of leptin gene including 1,000 bp upstream of promoter region with twenty-four unrelated Korean cattle. Fifty-seven sequence variants were identified: fourteen in 5' flanking region, twenty-seven in introns, eight in exons, and eight in 3' flanking region. By pair-wise linkage analysis among polymorphisms, ten sets of SNPs were in absolute linkage disequilibrium (LD) (|D'| = 1 and $r^2$ = 1). Among variants identified, thirty-six SNPs were newly identified, and twenty-one SNPs, which were reported in other breeds, were also confirmed in Korean cattle. The allele frequencies of variants were quite different among breeds. The information from SNPs of bovine leptin gene could be useful for further genetic studies of this gene.

• Molecules and Cells
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• 제24권3호
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• pp.388-393
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• 2007

Osteonecrosis of the femoral head (ONFH) is a multifactorial disease to which certain individuals are more at risk. Altered lipid metabolism is one of the major risk factors for osteonecrosis, especially corticosteroid therapy and alcoholism. Peroxisome Proliferator-Activated Receptor-${\gamma}$ ($PPAR{\gamma}$) plays a crucial role in differentiation of mesenchymal cells to adipocytes, lipid homeostasis, and bone metabolism. To investigate the possible association between $PPAR{\gamma}$ gene variants and susceptibility to ONFH, we genotyped three common polymorphisms (-796A > G, +34C > G[Pro12Ala], and +82466C > T[His477His]) in 448 ONFH patients and 336 control subjects. Genotypes, allele frequencies, and haplotypes of the polymorphisms in the complete set of patients as well as in subgroups by sex or etiology were not significantly different from those in the control group. This suggests that the examined polymorphisms and haplotypes of the $PPAR{\gamma}$ gene are unlikely to be associated with susceptibility to ONFH.

• 한국환경성돌연변이발암원학회지
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• 제21권2호
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• pp.95-98
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• 2001

$\beta$$_2$-Adrenergic receptors($\beta$$_2$-AR) contribute to cardiovascular regulation by influencing several functions and a several studies suggest that a decreased function of the $\beta$$_2$-AR may be involved in essential hypertension. We investigated the Arg16Gly mutation of $\beta$$_2$-AR gene, which show enhanced agonist-promoted downregulation of the receptor and yielded different results in terms of association with essential hypertension. We studied the relationship between genetic variation in the $\beta$$_2$-adrenergic receptor gene and hypertension in a Korean population using Nde I restriction fragment length polymorphism (RFLP) analysis. There were significant differences in allele and genotype frequencies between essential hypertensive and normotensive group (Odds ratio(CI) = 1.71 (1.09-2.70)). Therefore, our result suggests that the Nde I RELP of the $\beta$$_2$-adrenergic receptor gene may be useful as a genetic marker in hypertension diagnostics in Korean population.

• Asian-Australasian Journal of Animal Sciences
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• 제22권6호
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• pp.893-899
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• 2009

Few studies have reported the existence of imprinted genes in cattle compared to the human and mouse. Genomic imprinting is expressed in monoallelic form and it depends on a single parent-specific form of the allele. Comparative analysis of mammals other than the human is a valuable tool for explaining the genomic basis of imprinted genes. In this study, we investigated 34 common imprinted genes in the human and mouse as well as 35 known non-imprinted genes in the human. We found short interspersed nuclear elements (SINEs), long interspersed nuclear elements (LINEs), and long terminal repeats (LTRs) in imprinted (human and mouse) and control (cattle) genes. Pair-wise comparisons for the three species were conducted using SINEs, LINEs, and LTRs. We also calculated 95% confidence intervals of frequencies of repetitive sequences for the three species. As a result, most genes had a similar interval between species. We found 11 genes with conserved SINEs, LINEs, and LTRs in the human, mouse, and cattle. In conclusion, eleven genes (CALCR, Grb10, HTR2A, KCNK9, Kcnq1, MEST, OSBPL5, PPP1R9A, Sgce, SLC22A18, and UBE3A) were identified as candidate imprinted genes in cattle.

• 생물정신의학
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• 제12권1호
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• pp.62-67
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• 2005

Objective:There has been increasing evidence that neurodevelopmental dysfunction is involved in the pathophysiology of schizophrenia. Cadherin is known to be one of the important molecules in neurodevelopment. This study was performed to examine the relationship between T816C polymorphism of CDH2 gene and schizophrenia. Methods:Genoytypes of T816C polymorphism of CDH2 gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 156 Korea patents with schizophrenia and 170 controls. Results:No difference was found between the patients with schizophrenia and the controls in genotype and allele frequencies of T816C polymorphism of CDH2 gene. Conclusion:The results of this study do not support an association between T816C polymorphism of CDH2 gene and schizophrenia. However, it is necessary to investigate other polymorphic regions of CDH2 in schizophrenia.

• Journal of Plant Biology
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• 제37권2호
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• pp.141-149
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• 1994

Levels of genetic diversity, population genetic structure, and gene flow in Hosta yingeri, a herbaceous perennial endemic to Taehuksan, Sohuksan, and Hong Islands, were investigated. Starch gel electrophoresis was conducted on leaves for 101 plants collected from three populations. Although the distribution of thespecies is restricted in the islands, it maintains high levels of genetic variatin; 64% of polymorphic loci in at least one population (Ps), the mean number of alleles per locus (Ap) of 1.92, and the mean effective number of alleles per locus (Aep) of 1.52. Overall, mean genetic diversity (Hep=0.250) was substantially higher than mean estimate for species with very similarlife history traits (0.102). Large populaton size, the persistence of multiple generations within populations, high fecundity, predominantly outcrossing breeding system, large size of pollinator visitation areas may be explanatory factors contributing the higher level of genetic diversity maintained within populations. Analysis of fixation indices showed an overall slight excess of heterozygotes (mean FIS=-0.066) relative to Hardy-Weinberg expectations, which may in part be due to the near self-incompatible breeding system in the species. Significant differences in allele frequencies among populaitns were found for 14 out of 16 polymorphic loci (P<0.05). Slightly more than 80% of the total variation in the species was common to all populations (GST=0.198). As expected, indirect estimate of the number of migrants per generation (Nm=0.45, calculated from mean GST) and nine private alleles found in the three populations indicate that gene movement among three isolated island populations was low.

• 한국환경독성학회:학술대회논문집
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• 한국환경독성학회 2003년도 춘계학술대회
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• pp.177-177
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• 2003

Adult periodontitis is a chronic inflammatory disease whose etiology is not well defined. Recent studies have shown that vitamin D receptor gene has been a candidate for the susceptibility of adult periodontitis. The purpose of this study is to investigate the frequency of Taq I restriction fragment length polymorphism (RELP) in the vitamin D receptor gene in 141 periodontically healthy controls and 32 adult periodontitis patients. Taq I RFLP in the vitamin D receptor gene were detected by PCR amplification, followed by restriction enzyme digestion and 2% agarose gel electrophoresis. There were no significant difference in the distribution of Taq I RFLP between healthy controls and adult periodontitis group (P > 0.05). Thus, Taq I RFLP in the vitamin D receptor gene may not confer the susceptibility to adult periodontitis in Korean population. However, t allele distributions of this RFLP showed various frequencies among ethnic groups studied. Further studies in other ethnic groups will be required.