• 제목/요약/키워드: Transmission/disequilibrium test

검색결과 17건 처리시간 0.024초

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
    • /
    • 제16권1호
    • /
    • pp.25-36
    • /
    • 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.

  • PDF

한국인 자폐스펙트럼장애와 SLC6A4 유전다형성의 연관 연구 (No Association Study of SLC6A4 Polymorphisms with Korean Autism Spectrum Disorder)

  • 유희정;조인희;박미라;양소영;김순애
    • 생물정신의학
    • /
    • 제16권2호
    • /
    • pp.121-126
    • /
    • 2009
  • Objectives : The serotonin transporter gene(SLC6A4) is one of the most widely studied candidate genes in autism spectrum disorder(ASD), but there have been conflicting results from studies into the association between SLC6A4 and ASD. The aim of this study was to evaluate the association between single nucleotide polymorphisms(SNPs) in the SLC6A4 gene and ASD in the Korean population. Methods : We selected 12 SNPs in SLC6A4 and observed the genotype of 151 Korean ASD trios. We tested the family-based association for each individual polymorphism and haplotype by using the standard TDT method in Haploview(http://www.broad.mit.edu/mpg/haploview/). Results : Through transmission-disequilibrium testing and haplotype analysis, we could not find any statistically significant transmitted allele or haplotype. In addition, a case-control association test with Korean HapMap data did not reveal any statistical significance. Conclusion : Although serotonin-related genes must be considered candidate genes for ASD, we suggest that common SNPs of SLC6A4 are not important markers for associations with Korean ASD.

  • PDF

Co-integration and Causality Analysis among Major Black gram Markets in Andhra Pradesh, India

  • Kumar, K. Nirmal Ravi
    • Agribusiness and Information Management
    • /
    • 제12권2호
    • /
    • pp.40-54
    • /
    • 2021
  • Market integration and prices in pulse crops like black gram play an important role in determining the production decisions of the farmers and diversification towards high value nutritious crops. In this context, the present study explores extent of market integration and price transmission in selected major black gram markets in Andhra Pradesh using Johansen co-integration, Vector Error Correction Model and Granger causality test. The study used monthly prices data of black gram (Rs/quintal) sourced from selected markets of Srikakulam, Krishna and Kurnool spanning January, 1990 to December, 2019. The results of the study strongly buttressed the existence of co-integration and interdependence of selected black gram markets in Andhra Pradesh. However, the speed of adjustment of the prices found to be moderate in Krishna market and quite weaker in Srikakulam market and thereby prices correct a small percentage of the disequilibrium in these markets with the greatest percentage by the external and internal forces. So, it necessitates the need for future research, to investigate the influence of external and internal factors such as market infrastructure, Government policy and self-sufficient production, product characteristics and utilization towards market integration. As there exists only unidirectional causality from Krishna to Kurnool and from Krishna to Srikakulam markets, it calls for strengthening the information technology for flow of market information regularly to help the farmers for increasing their income.

한국인 주의력결핍 과잉행동장애와 Dopamine Beta Hydroxylase 유전자의 관련성 : 가족기반 연구 및 환자-대조군 연구 (A FAMILY-BASED AND CASE-CONTROL ASSOCIATION STUDY OF THE DOPAMINE BETA HYDROXYLASE GENE POLYMORPHISM IN ATTENTION DEFICIT HYPERACTIVITY DISORDER)

  • 박태원;김붕년;임명호;유희정;강대희;조수철
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
    • /
    • 제16권1호
    • /
    • pp.54-62
    • /
    • 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.

  • PDF

일배체형에 기초한 고혈압과 ACE 유전자의 연관성 분석 (Haplotype-Based Association and Linkage Analysis of Angiotensin-I Converting Enzyme(ACE) Gene with a Hypertension)

  • 김진흠;남정모;강대룡;서일
    • 응용통계연구
    • /
    • 제18권2호
    • /
    • pp.297-310
    • /
    • 2005
  • 본 연구에서는 강화연구(서일, 2004)를 통해 수집된 277명의 환자-대조군 자료와 40개의 가계 자료를 이용하여 ACE(angiotensin-I converting enzyme) 유전자 내에 있는 4개의 단일염기다형성(single nucleotide polymorphism; SNP)으로 이루어진 일배체형(haplotype)과 고혈압의 관련성을 알아보고자 한다. 이를 위해 일배체형에 기초한 환자-대조군의 우도비 검정과 가계 자료의 TDT(transmission/disequilibrium test) 연구를 수행하고자 한다. 또한 이 일배체형을 동정(identification)할 수 있는 tag-SNPs에 기초하여 동일한 연구를 하고자 하며, Seltman 등(2003)이 제안한 분기도(cladogram) 분석 방법을 써서 일배체형의 진화 과정에서 가깝게 위치하고 질병 발생 위험이 비슷한 클레이드(clade)를 찾아내고 이 클레이드와 고혈압의 연관성을 살펴보고자 한다.

청소년 고혈압 관련 유전자의 연관성 분석: Kangwha Study (Association Analysis of the Essential Hypertension Susceptibility Genes in Adolescents: Kangwha Study)

  • 서일;남정모;김성주;신동직;허남욱;강대룡
    • Journal of Preventive Medicine and Public Health
    • /
    • 제39권2호
    • /
    • pp.177-183
    • /
    • 2006
  • Objectives : In this study we examined the association between the genetic markers ACE (A-240T, C-93T, I/D, A2350G), AGT (M235T), AT1R (A1166C), CYP11B2 (T344C, V386A), REN (G2646A), ADRB2 (G46A, C79G, T47C, T1641), GNB3 (C825T) and ADD1 (G460W) and the presence of essential hypertension in adolescents. Methods : The Kangwha Study is an 18-year prospective study that is aimed at elucidating the determinants of the blood pressure level from childhood to early adulthood. For this study, we constructed a case-control dataset of size of 277 and 40 family trios data from the Kangwha Study. For this purpose, we perform a single locus-based case-control association study and a single locus-based TDT (transmission/disequilibrium test) study. Results : In the case-control study, the single locus-based association study indicated that the ADD1 (G460W) (p=0.0403), AGT (M235T) (p=0.0002), and REN (G2646A) (p=0.0101) markers were significantly associated with the risk of hypertension. These results were not confirmed on the TDT study. This study showed that genetic polymorphisms of the ADD1, AGT and REN genes might be related to the hypertension in Korean adolescents. Conclusions : This study provided useful information on genetics markers related to blood pressure. Further study will be needed to confirm the effect of the alpha adducin gene, the angiotensinogen gene and the renin gene on essential hypertension.

A Major Locus for Quantitatively Measured Shank Skin Color Traits in Korean Native Chicken

  • Jin, S.;Lee, J.H.;Seo, D.W.;Cahyadi, M.;Choi, N.R.;Heo, K.N.;Jo, C.;Park, H.B.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제29권11호
    • /
    • pp.1555-1561
    • /
    • 2016
  • Shank skin color of Korean native chicken (KNC) shows large color variations. It varies from white, yellow, green, bluish or grey to black, whilst in the majority of European breeds the shanks are typically yellow-colored. Three shank skin color-related traits (i.e., lightness [$L^*$], redness [$a^*$], and yellowness [$b^*$]) were measured by a spectrophotometer in 585 progeny from 68 nuclear families in the KNC resource population. We performed genome scan linkage analysis to identify loci that affect quantitatively measured shank skin color traits in KNC. All these birds were genotyped with 167 DNA markers located throughout the 26 autosomes. The SOLAR program was used to conduct multipoint variance-component quantitative trait locus (QTL) analyses. We detected a major QTL that affects $b^*$ value (logarithm of odds [LOD] = 47.5, $p=1.60{\times}10^{-49}$) on GGA24 (GGA for Gallus gallus). At the same location, we also detected a QTL that influences $a^*$ value (LOD = 14.2, $p=6.14{\times}10^{-16}$). Additionally, beta-carotene dioxygenase 2 (BCDO2), the obvious positional candidate gene under the linkage peaks on GGA24, was investigated by the two association tests: i.e., measured genotype association (MGA) and quantitative transmission disequilibrium test (QTDT). Significant associations were detected between BCDO2 g.9367 A>C and $a^*$ ($P_{MGA}=1.69{\times}10^{-28}$; $P_{QTDT}=2.40{\times}10^{-25}$). The strongest associations were between BCDO2 g.9367 A>C and $b^*$ ($P_{MGA}=3.56{\times}10^{-66}$; $P_{QTDT}=1.68{\times}10^{-65}$). However, linkage analyses conditional on the single nucleotide polymorphism indicated that other functional variants should exist. Taken together, we demonstrate for the first time the linkage and association between the BCDO2 locus on GGA24 and quantitatively measured shank skin color traits in KNC.