• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제16권1호
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• pp.54-62
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• 2005

목적 : 이번 연구는 최근 주목을 받고 있는 dopamine beta hydroxylase 유전자의 Taq I 절단부위 다형성과 주의력결핍 과잉행동장애 발병 간에 어떤 관련성이 있는지를 알아보기 위한 연구이다. 방법 : 주의력결핍 과잉행동장애 아동 106명을 환자군으로 선정하고, 환자군과 성별, 연령별로 빈도짝짓기된 일반 아동 212명을 대조군으로 하는 환자-대조군 연구를 실시했다. 아울러 환자군과 부모를 대상으로 가족기반 연구를 병행했다. 결과 : 환자-대조군 연구에서는 환자군과 대조군 간의 유전자형이나 대립유전자 분포에 있어 유의한 차이를 발견하지 못했다. 그러나 가족기반 연구에서는 대립유전자 Al의 선택 전달이 관찰되었다. 결론 : 이번 연구를 통해 주의력결핍 과잉행동장애와 dopamine beta hydroxylase 유전자의 Taq I 절단부위 다형성 간의 관련성을 부분적으로 확인했으나 이를 뒷받침하기 위해 서는 추가적인 연구가 필요할 것이다.

• 생물정신의학
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• 제8권1호
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• pp.20-36
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• 2001

우울증으로 고통받는 많은 환자들에서 보이는 다양항 양상과 다양한 경과를 자주 접하면서 분류를 어떻게 하여야 임상적으로 유용한가 의문을 가지게 된다. 이에 저자들은 우울증의 아형 평가의 필요성과 평가도구들을 문헌을 통하여 고찰하였다. 원래부터 이들이 이질적인 집단으로 구성되어 있는지, 하나의 유전적 소인이 있어 개인에 따라서 병의 진행 시기에 따라서 여러 우울증의 spectrum으로 표현되는 것인지 문제가 제기되어 왔지만, 현재로서는 분명히 알 수 없다. 저자들은 먼저 "우울증 스펙트럼" "양극성 우울과 단극성 우울이 공통의 하나의 유전적 인자를 가지는가" "양극성 스펙트럼 장애"등 강한 주장들이 있어 문헌 고찰을 통해서 알아보았다. 그리고, 최근 생물학적인 연구로부터 나온 세로토닌 관련 우울증 가설을 알아보았다. 이 우울증 가설(SeCA depression)은 조기 모성 분리 혹은 모성 박탈 같은 유년시절의 부정적 경험, 불안, 공격성, co-rtisol 증가, cortisol flattening, DST 양성, 스트레스 사건, CRF 상승, 5HIAA저하 등을 연결하여 우울증의 역동을 쉽게 설명하였고 생물-심리-사회적 접근을 가능하게끔 하는 우울증의 모델이다. 둘째로 고전적인 생물학적 지표 즉 DST, TRH 자극 검사, 및 뇨 MHPG 검사 결과에 따르는 우울증 아형을 구분하고 특징을 살펴보았고 이들의 역사적이고 임상적인 의미를 알아보았다. 그밖에 APOE epsilon 4 allele, 기질-성격이론(Temperament Character Inventory : TCI) 심박동 변이도(heart rate variability : HRV) 같은 요인들을 비롯하여 잘 알려진 증상이나 진단으로 분류된 아형들을 조사하여 임상적인 의미를 찾아보았다.

• Journal of Preventive Medicine and Public Health
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• 제44권3호
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• pp.125-130
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• 2011

Objectives: The microRNA (miRNA) miR-196a2 may play an important role in lung cancer development and survival by altering binding activity of target mRNA. In this study, we evaluated their associations with the susceptibility of non-small cell lung cancers (NSCLC) by case-control study in a Korean population. Methods: We performed genotyping analyses for miR-196a2 rs11614913 T/C at miRNA regions in a case-control study using blood samples of 406 NSCLC patient and 428 cancer-free control groups. Results: The total C allele frequencies for miR-196a2 were 48.8% for the patients and 45.6% for the controls; and the genotype frequencies of TT, TC, and CC were 23.7%, 55.2%, and 21.1% for the patients and 31.1%, 46.35%, and 22.4% for the controls (p<0.05). Participants who possesses TC/CC genotypes showed high risk for NSCLC compared to those possessed TT genotypes (OR, 1.42; 95% CI, 1.03 to 1.96). The association was persisted in 60 and older age group, male, smokers, those without family history for cancer. However, no significant association of CC genotypes in recessive genetic model was observed. Conclusions: In conclusion, this case-control study provides evidence that miR-196a2 rs11614913 C/T polymorphisms are associated with a significantly increased risk of NSCLC in a dominant model, indicating that common genetic polymorphisms in miR-196a2 rs11614913 are associated with NSCLC. The association of miR196a2 rs11614913 polymorphisms and NSCLC risk require confirmation through additional larger studies.

• Clinical and Experimental Pediatrics
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• 제48권8호
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• pp.877-880
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• 2005

목 적 : 한국인 당원병 제 Ia형 환자에서 G6Pase 유전자 돌연변이를 찾아내고, 유전형과 임상양상과의 연관관계를 밝히는 것이다. 방 법 : 서울대학교병원 소아과에서 Ia형 당원병으로 진단 받은 환자 20명을 대상으로 G6Pase 유전자에 대하여 직접 염기서열 분석하였다. 유전형과 임상 양상의 상관성을 알아보기 위하여 진단시 연령, 저신장, 저혈당, 고콜레스테롤혈증, 고요산혈증, 고칼슘뇨증, 신석회화증, 간선종 발생을 조사하였다. 결 과 : 총 5종류의 돌연변이가 발견되었고, splice site 돌연변이인 727G>T가 40개의 대립 유전자 중 32개에서 발견되어 80%의 빈도를 보였다. 전체 20명 중에서 12명이 727G>T 동형접합자이고, 8명이 727G>T 복합 이형접합자이었다. 8명의 이형접합자에서 G122D 3명, P178A 1명, G222R 2명, 새로운 돌연변이인 S339R 2명 등 다른 돌연변이를 찾을 수 있었다. 727G>T 동형접합자와 복합 이형접합자 두 군 사이에 저신장, 저혈당, 고콜레스테롤혈증, 고요산혈증, 신석회화증, 간선종의 빈도는 차이를 보이지 않았다. 결 론 : 임상 양상, 생화학적 검사와 함께 유전자 돌연변이 분석을 이용하면 간생검을 통한 효소측정을 하지 않고 Ia형 당원병을 진단할 수 있으며, 727G>T 동형접합 돌연변이가 이형접합과 비교할 때 질병 양상에 큰 영향을 미치지 않는다.

• BMB Reports
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• 제36권2호
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• pp.179-184
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• 2003

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited manifestations. In some rare cases, the disease can also be manifested in females. The aim of the present study was to determine the molecular alteration in two cases of nonrelated DMD symptomatic carriers with no previous history of DMD. Multiplex PCR is commonly used to search for deletion in the DMD gene of affected males. This method could not be used in females because the normal X chromosome masks the deletion of the mutated one. Therefor, we used a set of seven highly polymorphic dinucleotide $(CA)_n$ repeat markers that lie within the human dystrophin gene. The deletions were evidenced by hemizygosity of the loci under study. We localized a deletion in the locus 7A (intron 7) on the maternal X chromosome in one case, and a deletion in the region of introns 49 and 50 on the paternal X chromosome in the other. The use of microsatellite genotyping within the DMD gene enables the detection of the mutant allele in female carriers. It is also a useful method to provide DMD families with more accurate genetic counseling.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1215-1219
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• 2016

Background: Worldwide, breast cancer is the most common cancer among women and is a leading cause of cancer death. In the present study, we investigated the NQO1 C609T genotypic and allelic distribution in north Indian breast cancer patients. Materials and Methods: The genotypic distribution of the NQ01 C609T polymorphism was assessed in 100 invasive ductal carcinoma (IDC) breast cancer patients and 100 healthy controls using allele specific PCR (AS-PCR). Results: A lower frequency of the CC genotype was found in breast cancer patients (24%) than in the controls. On the other hand, TT genotype frequency was also found to be higher in female healthy controls (32%) than the female breast cancer patients (20%). The frequencies of all three genotypes CC, CT, TT in patients were 24%, 56% and 20% and in healthy controls 50%, 22% and 32% respectively. We did not find any significant correlation between the NQO1 C609T polymorphism and age group, grading, menopausal status and distant metastasis. A less significant association was found between the NQ01 C609T polymorphism and the stage of breast cancer (X2=5.931, P=0.05). Conclusions: The present study shows a strong association between NQO1 C609T polymorphism with the breast cancer risk in the north Indian breast cancer patients so that possible use as a risk factor should be further expel.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.5871-5876
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• 2013

Background: Single nucleotide polymorphisms (SNPs) occurring in Toll-like receptors (TLRs) may contribute to cancer risk. Many polymorphisms of TLR2 have been studied for associations, but the findings are conflicting. Methodology/Principal Findings: We performed a meta-analysis of 14 studies to confirm the association between TLR2+597T>C (rs3804099), +1350C>T (rs3804100) and Arg753Gln (rs5743708) polymorphisms and cancer risk. Odds ratio (OR) and 95% confidence intervals (95% CI) were used to assess the strength of associations. There was no significant association between TLR2+597T>C and cancer risk in the codominant models (CC vs. TT: OR = 1.01, 95%CI = 0.86-1.17, $P_{heterogeneity}=0.148$; CT vs. TT: OR = 0.92, 95%CI = 0.69-1.23, $P_{heterogeneity}$ < 0.001), the recessive model (CC vs. CT+TT: OR = 0.86, 95%CI = 0.67-1.10, $P_{heterogeneity}=0.007$), the dominant model (CC+CT vs. TT: OR = 0.93, 95%CI = 0.76-1.15, $P_{heterogeneity}=0.001$) and the allele model (C vs. T: OR =0.93, 95%CI = 0.81-1.08, $P_{heterogeneity}=0.019$). Similarly, no significant associations between TLR2+1350C>T, Arg753Gln polymorphisms and cancer risk were found. However, in the sub-group analysis of ethnicities, the trend of pooled ORs in Asians was opposite to Caucasians. Conclusions: The present meta-analysis suggests that TLR2+597T>C (rs3804099), +1350C>T (rs3804100) and Arg753Gln (rs5743708) polymorphisms are not associated with cancer risk.

• Asian Pacific Journal of Cancer Prevention
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• 제14권8호
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• pp.4559-4565
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• 2013

Background: Methylenetetrahydrofolate reductase (MTHFR) is involved in DNA synthesis and repair. We here aimed to investigate two common polymorphisms, C677T and A1298C, with genotype and haplotype frequencies in colorectal cancer (CRC) cases among Jordanian. Materials and Methods: 131 CRC cases were studied for MTHFR C677T and A1298C polymorphisms, compared to 117 controls taken from the general population, employing the PCR-RFLP technique. Results: We found the frequency of the three different genotypes of MTHFR C677T among Jordanians to be CC: 61.7%, CT: 35.2%, and TT 3.1% among CRC cases and 50.9%, 38.8% and 10.3% among controls. Carriers of the TT genotype were less likely to have CRC (OR=0.25; 95%CI: 0.076-0.811; p=0.021) as compared to those with the CC genotype. Genotype analysis of MTHFR A12987C revealed AA: 38.9%, AC: 45%, and CC 16% among CRC cases and 37.4%, 50.4% and 12.2% among controls. There was no significant association between genetic polymorphism at this site and CRC. Haplotype analysis of MTHFR polymorphism at the two loci showed differential distribution of the TA haplotype (677T-1298A) between cases and controls. The TA haplotype was associated with a decreased risk for colorectal cancer (OR=0.6; 95% CI: 0.4-0.9, p=0.03). Conclusions: The genetic polymorphism of MTHFR at 677 and the TA haplotype may modulate the risk for CRC development among the Jordanian population. Our findings may reflect an importance of genes involved in folate metabolism in cancer risk.

• Asian-Australasian Journal of Animal Sciences
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• 제31권4호
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• pp.473-479
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• 2018

Objective: The study was designed to perform a genome-wide association (GWA) and partitioning of genome using Illumina's PorcineSNP60 Beadchip in order to identify variants and determine the explained heritability for the total number of teats in Yorkshire pig. Methods: After screening with the following criteria: minor allele frequency, $MAF{\leq}0.01$; Hardy-Weinberg equilibrium, $HWE{\leq}0.000001$, a pair-wise genomic relationship matrix was produced using 42,953 single nucleotide polymorphisms (SNPs). A genome-wide mixed linear model-based association analysis (MLMA) was conducted. And for estimating the explained heritability with genome- or chromosome-wide SNPs the genetic relatedness estimation through maximum likelihood approach was used in our study. Results: The MLMA analysis and false discovery rate p-values identified three significant SNPs on two different chromosomes (rs81476910 and rs81405825 on SSC8; rs81332615 on SSC13) for total number of teats. Besides, we estimated that 30% of variance could be explained by all of the common SNPs on the autosomal chromosomes for the trait. The maximum amount of heritability obtained by partitioning the genome were $0.22{\pm}0.05$, $0.16{\pm}0.05$, $0.10{\pm}0.03$ and $0.08{\pm}0.03$ on SSC7, SSC13, SSC1, and SSC8, respectively. Of them, SSC7 explained the amount of estimated heritability along with a SNP (rs80805264) identified by genome-wide association studies at the empirical p value significance level of 2.35E-05 in our study. Interestingly, rs80805264 was found in a nearby quantitative trait loci (QTL) on SSC7 for the teat number trait as identified in a recent study. Moreover, all other significant SNPs were found within and/or close to some QTLs related to ovary weight, total number of born alive and age at puberty in pigs. Conclusion: The SNPs we identified unquestionably represent some of the important QTL regions as well as genes of interest in the genome for various physiological functions responsible for reproduction in pigs.

• Journal of Animal Science and Technology
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• 제45권1호
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• pp.13-22
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• 2003

성장호르몬 유전자는 하나의 작은 공통 선조 유전자로부터 아주 오랜 기간동안 유전자 중복에 의해 진화되어 온 그룹들 중의 하나이다. 이들에 속하는 유전자들은 동물 종간에 구조적인 상동성과 기능적 공통성 등 유사성이 비교적 높게 나타난다. 이런 연구결과들을 근거로 하여 소 성장호르몬 유전자에서 아미노산을 암호화하는 영역으로부터 새로운 아미노산의 변이(missense mutation)를 검출하였고, 이 변이의 대립유전자 빈도는 소(cattle)의 종(species) 및 품종의 지리적 분포에 따라 일정한 경향 치를 보여 주었다. 한편 변경되어진 아미노산은 Tryptophan으로 이는 생물체에 존재하는 많은 단백질들을 구성하는 아미노산중에서도 그 출현빈도가 가장 낮은 것이다. 또한 검출된 변이는 성장호르몬이 그의 수용체와 강하게 결합하는 부위로서, 성장호르몬의 구조적 변이를 초래하여 수용체와의 결합이 비정상적으로 이루어져, 이후 성장호르몬이 표적세포로의 신호전달과 같은 역할을 제대로 수행치 못하게 되고, 이로 인하여 가축의 표현되어지는 경제형질에 영향을 미칠 것으로 추정된다. 그러므로 이러한 대립유전자를 보유하는 개체는 집단에서 제거하는 방법에 의한 개량이 가능할 것으로 사료된다.