• 제목/요약/키워드: gene association score

검색결과 118건 처리시간 0.026초

한국인 공황장애 환자의 트립토판 가수분해 효소와 세로토닌 전달체 유전자 다형성 (No Association between Genetic Polymorphism of Tryptophan Hydroxylase A218C and Serotonin Transporter Linked Polymorphic Region and Panic Disorder)

  • 최영희;우종민;박헌구;윤경식;조대연;이민수
    • 생물정신의학
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    • 제11권2호
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    • pp.136-145
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    • 2004
  • Objectives:Genetic variations of the tryptophan hydroxylase(TPH) gene and the serotonin transporter linked polymorphic region(5-HTTLPR) polymorphism have been associated with its functional capacity. The authors investigated whether the allelic constitution of the TPH gene and 5-HTTLPR are associated in Korean panic patients. Methods:244 Korean patients with panic disorder and 227 normal healthy controls were tested for a genetic polymorphism of TPH A218C and 5-HTTLPR polymorphism. To assess the severity of panic disorder during the last one month, anticipatory anxiety, panic difficulty, panic distress, agoraphobic difficulty and agoraphobic distress were measured with visual analogue scale(VAS) score, STAI-S & T, BDI, SCL-90-R, ASI-R, CGI, PDSS, and HAMD. Results:There was no significant difference in genotype and allele frequencies of TPH A218C and 5-HTTLPR polymorphism between panic patients and controls. Although we observed some differences in genotype and allele frequencies of TPH A218C polymorphism among male subjects, these differences disappeared after Bonferroni correction. And there were no significant differences in clinical variables. Conclusion:Our results suggested that there are no association between the genetic polymorphism of TPH gene and 5-HTTLPR with panic disorder.

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GSTM1 Polymorphisms and Lung Cancer Risk in the Chinese Population: a Meta-Analysis Based on 47 Studies

  • Chen, Xin-Ping;Xu, Wei-Hua;Xu, Da-Feng;Xie, Xian-He;Yao, Jia;Fu, Sheng-Miao
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권18호
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    • pp.7741-7746
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    • 2014
  • Although a number of studies have been conducted on the association between GSTM1 polymorphisms and lung cancer in China, this association remains elusive and controversial. To clarify the effects of GSTM1 polymorphisms on the risk of lung cancer, a meta-analysis was performed in the Chinese population. Related studies were identified from PubMed, Springer Link, Ovid, Chinese Wanfang Data Knowledge Service Platform, Chinese National Knowledge Infrastructure (CNKI), and Chinese Biology Medicine (CBM) up to 5th April 2014. A total of 45 articles (47 studies) including 6,623 cases and 7,865 controls were involved in this meta-analysis. Overall, a significant association (OR = 1.45, 95%CI: 1.32-1.60) was found between the null GSTM1 and lung cancer risk when all studies in Chinese population pooled into the meta-analysis. In subgroup analyses stratified by quality score, geographic area and source of controls, the same results were observed under all the models. This meta-analysis showed that the null GSTM1 may be a potential biomarker for lung cancer risk in Chinese, but further studies with gene-gene and gene-environment interactions are required for definite conclusions.

한국인 주의력결핍-과잉행동장애 아동의 세로토닌 수송체 유전자 다형성 (The Serotonin Transporter Gene Polymorphism in Korean Attention-Deficit/Hyperactivity Disorder Children)

  • 조수철;손정우;김붕년;김재원;유희정;황준원;조대연;정운선;박태원
    • 생물정신의학
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    • 제16권1호
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    • pp.25-36
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    • 2009
  • Objectives : The aim of this study was to investigate the association between Korean ADHD patients and the l/s polymorphism of serotonin transporter(5-HTTLPR). Methods : The study sample consisted of 189 Korean ADHD children diagnosed by Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean Version(K-SADS-PL), both parents of ADHD children, and 150 normal children. DNA were extracted from the blood of all samples, and genotyping was done. Based on the allele and genotype information, not only the case-control analysis between ADHD and normal children but also the family-based association test among ADHD children and their parents. Transmission disequilibrium test(TDT) were performed for family-based associated test(number of trio=113). The results of the clinical rating and neuropsychological tests were compared according to the l/s genotype of ADHD children. Results : In case-control analysis, there were no statistically significant difference of l/s gene polymorphism between ADHD and normal children in various kinds of analysis condition. In family-based association study, TDT failed to detect linkage disequilibrium between l/s gene polymorphism and ADHD in whole ADHD families. However, in the families of ADHD inattentive type only(number of trio=23), I allele was transmitted more preferentially in the proband with ADHD even if the number of families was small(${\chi}^2$=4.57, p=.032). In the analysis of the results from the clinical scales and neuropsychological tests in ADHD children, the score of the Novelty- Seeking of ADHD children with l/l genotype was significantly lower than with the other genotypes(F=3.15, p=.047), and that of Self Transcendence was significantly higher(F=4.25, p=.017). Conclusion : The results of this study suggest there were no significant genetic association between the 5- HTTLPR gene polymorphism and Korean ADHD.

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신생아 행동 특성과 Dopamine Transporter 유전자 및 Dopamine D2, D3, D4 수용체 유전자의 다형성 (NEONATAL BEHAVIORAL CHARACTERISTICS AND DOPAMINE TRANSPORTER GENE AND DOPAMINE D2, D3, D4 RECEPTOR GENE POLYMORPHISMS)

  • 박영남;김대광;김성욱
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제12권2호
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    • pp.179-191
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    • 2001
  • 연구목적:신생아의 행동 특성과 DAT1, DRD2, DRD3 및 DRD4 유전자 다형성 사이에 연관이 있는지 평가하였다. 방 법:2000년 4월 17일부터 2000년 6월 17일까지 출생한 정상 신생아 114명을 대상으로 하였다. 신생아 행동 평가는 Neonatal Behavioral Assessment Scale(NBAS)을 이용하여 생후 약 18시간에 평가하였으며, 출산시 제대혈액을 채취하여 DAT1, DRD2, DRD3 및 DRD4 유전자 다형성을 검사하였다. DAT1, DRD2, DRD3 및 DRD4 유전자의 유전자형에 따라서 집단 사이에 NBAS 7개 항목 점수를 비교하였다. 결 과:DAT1 유전자는 10/10 유전자형 집단과 비교해서 기타 유전자형 집단이 사회성-상호작용, 상태 조직력 및 상태 조절 능력 항목에서 유의하게 점수가 높았다. DRD2 유전자 Ser311/Cys311 유전자형은 Ser/Ser 유전자형 집단과 기타 유전자형 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD2 유전자는 TaqI A 및 TaqI B 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD3 유전자는 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD4 유전자 promoter 유전자형에 의한 집단 사이에 NBAS 항목 점수에 유의한 차이가 없었다. DRD4 유전자 반복배열이 긴 유전자형 집단은 짧은 유전자형 집단보다 습관화 항목 점수가 유의하게 높았다. 결 론:이러한 성적은 DAT1 및 DRD4 유전자 반복배열 다형성이 신생아 행동 특성에 영향을 미치는 유전적 기전일 가능성을 시사한다.

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ADFP promoter polymorphism associated with marbling score in Korean cattle

  • Cheong, Hyun-Sub;Yoon, Du-Hak;Bae, Joon-Seol;Kim, Lyoung-Hyo;Kim, Eun-Mi;Kim, Ji-On;Hong, Jin;Kim, Nae-Soo;Shin, Hyoung-Doo
    • BMB Reports
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    • 제42권8호
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    • pp.529-534
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    • 2009
  • Marbling score (MS) is the major trait that affects carcass quality in beef cattle. In this study, we investigated the association between genetic polymorphisms of the adipose differentiation-related protein gene (ADFP) and carcass traits in Korean cattle (also known as Hanwoo). Using direct DNA sequencing in 24 unrelated Korean cattle, 25 novel polymorphisms were identified within all exons and their flanking regions of ADFP, including the promoter region (1.5 kb). Among them, 21 polymorphic sites were selected for genotyping in the beef cattle (n = 425). Statistical analyses revealed that one promoter polymorphism (c.-56-18A > G) was associated with MS (P = 0.009). The 'A' allele of c.-56-18A > G exerted a lowering effect on MS, e.g., the lowest MS was found in 'A/A' (MS = 2.09 ${\pm}$ 1.23), intermediate in 'A/G' (MS = 2.11 ${\pm}$ 1.31), and the highest in 'G/G' (MS = 2.47 ${\pm}$ 1.47). Our findings suggest that these polymorphisms in ADFP might be important genetic factors involved in carcass quality in beef cattle.

정신분열병 환자의 도파민 $D_1$ 수용체 유전자형과 치료반응간의 연관 (The Association between the Dopamine $D_1$ Receptor Genotype and Treatment Response in Korean Schizophrenic Patients)

  • 백종우;이민수;이충순;임동준;함원훈
    • 생물정신의학
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    • 제8권1호
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    • pp.106-110
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    • 2001
  • Background : Dopamine receptors have been regarded as a strong candidate involved in etiology of schizophrenia and a target for various antipsychotic drugs. The purpose of our study was to investigate whether dopamine $D_1$ receptor(DRD1) gene polymorphisms would predict the treatment response to antipsychotics in schizophrenia. Method : One hundred thirty-four schizophrenic patients, who met DSM-IV criteria for schizophrenia were entered into a 48 -week study. The psychopathology of the patients was assessed at baseline, 12th, 24th 48th weeks of treatment by PANSS. Responders were defined by a 20% of the reduction in total PANSS score at end point. The genomic DNA fragment corresponding to nucleotides of dopamine $D_1$ receptor gene was amplified by polymerase chain reaction(PCR). Result: Neither allelic frequencies nor genotypes for dopamine $D_1$ receptor differed significantly between responders and non-responders. Also, there was no difference of changes of PANSS scores among three genotype groups of the dopamine $D_1$ receptor. Conclusion : Allelic variation in the dopamine $D_1$ gene is not associated with individual differences in antipsychotic response.

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Relationship between Single Nucleotide Polymorphisms in the Peroxisome Proliferator-Activated Receptor Gamma Gene and Fatty Acid Composition in Korean Native Cattle

  • Lee, Jea-young;Ha, Jae-jung;Park, Yong-soo;Yi, Jun-koo;Lee, Seunguk;Mun, Seyoung;Han, Kyudong;Kim, J.-J.;Kim, Hyun-Ji;Oh, Dong-yep
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권2호
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    • pp.184-194
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    • 2016
  • The peroxisome proliferator-activated receptor gamma ($PPAR{\gamma}$) gene plays an important role in the biosynthesis process controlled by a number of fatty acid transcription factors. This study investigates the relationships between 130 single-nucleotide polymorphisms (SNPs) in the $PPAR{\gamma}$ gene and the fatty acid composition of muscle fat in the commercial population of Korean native cattle. We identified 38 SNPs and verified relationships between 3 SNPs (g.1159-71208 A>G, g.42555-29812 G>A, and g.72362 G>T) and the fatty acid composition of commercial Korean native cattle (n = 513). Cattle with the AA genotype of g.1159-71208 A>G and the GG genotype of g.42555-29812 G>A and g.72362 G>T had higher levels of monounsaturated fatty acids and carcass traits (p<0.05). The results revealed that the 3 identified SNPs in the $PPAR{\gamma}$ gene affected fatty acid composition and carcass traits, suggesting that these 3 SNPs may improve the flavor and quality of beef in commercial Korean native cattle.

RORA 유전자 다형성과 한국인 젊은 성인에서 일중선호도와의 연관성 (Association of the RORA Gene Polymorphism and Diurnal Preference in a Young Korean Population)

  • 주훈;조철현;문정호;김린;이헌정
    • 수면정신생리
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    • 제23권1호
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    • pp.25-28
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    • 2016
  • 목 적 : Retinoid-related orphan receptor A (RORA) 유전자가 일주기리듬의 조절에 영향을 미친다는 사실이 알려져 왔다. 본 연구에서는 RORA 유전자다형성과 일중선호도의 연관성을 한국인 젊은 성인을 대상으로 분석하였다. 방 법 : 광고를 통해 모집한 504명의 젊은 성인이 최종적으로 대상에 포함되었다. 모든 대상은 13문항 composite scale for morningness (CSM)를 작성하였다. RORA rs11071547 단일염기다형성은 PCR 기반한 실험 방법을 통하여 분석하였다. 결 과 : CSM 점수결과 일중선호도는 RORA rs11071547 SNP의 유전자형과 대립유전자 보유여부에 따라 차이를 보이지 않았다. 결 론 : 이러한 연구결과는 RORA rs11071547 SNP가 일중선호도에 중요한 역할을 하지 않을 가능성을 보여준다.

대도시 및 농촌지역 주민의 구강위생실태 조사 연구 (A STUDY ON THE ORAL HYGIENE STATUS OF RESIDENTS WHO LIVED IN LARGE CITIES AND RURAL AREA)

  • 최유진
    • 대한치과의사협회지
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    • 제22권2호통권177호
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    • pp.141-148
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    • 1984
  • The auther had studied on the debri index, calculus index and simplified oral hygiene index, which was made according to the oral examination criteria recommened by WHO in 1971. The examined persons were 14,825 persons who lived in large cities and rural area. The obtained results were as follows: 1. the simplified oral hygiene index were 1.81 in male and 1.54 in female who lived I large cities. In rural area, the simplified oral hygiene index were 2.23 in male and 1.92 in female. 2. the debri index, calculus index and oral hygiene index were lower in upper jaw than in lower jaw. 3. According to the aging, debri, index, calculus index and simplified oral hygiene index score wee increased. 4. Dental health education what had done was not so effective on oral hygiene.

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Somatic cell score: gene polymorphisms and other effects in Holstein and Simmental cows

  • Citek, Jindrich;Brzakova, Michaela;Hanusova, Lenka;Hanus, Oto;Vecerek, Libor;Samkova, Eva;Jozova, Eva;Hostickova, Irena;Travnicek, Jan;Klojda, Martin;Hasonova, Lucie
    • Animal Bioscience
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    • 제35권1호
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    • pp.13-21
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    • 2022
  • Objective: The aim of the study was to evaluate the influence of gene polymorphisms and nongenetic factors on the somatic cell score (SCS) in the milk of Holstein (n = 148) and Simmental (n = 73) cows and their crosses (n = 6). Methods: The SCS was calculated by the formula SCS = log2(SCC/100,000)+3, where SCC is the somatic cell count. Polymorphisms in the casein alpha S1 (CSN1S1), beta-casein (CSN2), kappa-casein (CSN3), beta-lactoglobulin (LGB), acyl-CoA diacylglycerol transferase 1 (DGAT1), leptin (LEP), fatty acid synthase (FASN), stearoyl CoA desaturase 1 (SCD1), and 1-acylglycerol-3-phosphate O-acyltransferase 6 (AGPAT6) genes were genotyped, and association analysis to the SCS in the cow's milk was performed. Further, the impact of breed, farm, year, month of the year, lactation stage and parity on the SCS were analysed. Phenotype correlations among SCS and milk constituents were computed by Pearson correlation coefficients. Results: Only CSN2 genotypes A1/A2 were found to have significant association with the SCS (p<0.05), and alleles of CSN1S1 and DGAT1 genes (p<0.05). Other polymorphisms were not found to be significant. SCS had significant association with the combined effect of farm and year, lactation stage and month of the year. Lactation parity and breed had not significant association with SCS. The phenotypic correlation of SCS to lactose content was negative and significant, while the correlation to protein content was positive and significant. The correlations of SCS to fat, casein, nonfat solids, urea, citric acid, acetone and ketones contents were very low and not significant. Conclusion: Only CSN2 genotypes, CSN1S1 and DGAT1 alleles did show an obvious association to the SCS. The results confirmed the importance of general quality management of farms on the microbial milk quality, and effects of lactation stage and month of the year. The lactose content in milk reflects the health status of the udder.