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Linkage Disequilibrium Information within Monozygotic Twin Pairs - a Rationale for Genotyping Twins

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Authors
J. Kim1; K. Kim2; J. Sung1
Issue Date
2012-04
Publisher
AUSTRALIAN ACAD PRESS
Citation
TWIN RESEARCH AND HUMAN GENETICS Vol.15 No.2, pp. 206-207
Keywords
복합학
Abstract
Recently genome-wide association studies have become a standard gene mapping method, but MZs have been either considered to be redundant or treated as unrelated individuals after randomly selecting one cotwin. It has been a common sense in academia that monozygotic twin (MZ) pairs, although they have unique strengths in detecting non-genomic etiology, do not contribute to gene mapping studies. It is indeed true for linkage analysis, but resemblance of phenotypes between MZ cotwins does include information about linkage disequilibrium (LD) between the genetic markers and postulated disease-susceptibility loci (DSL) when the concordance/discordance rates are compared across genotypes. The authors attempted to formulate a method to detect association and suggest several ways of applying the information using triglyceride and hypertriglyceridemia as a model phenotype. Genome-wide association test findings from the Healthy Twin Study, Korea which do not utilize MZ concordance information were compared with the tests of MZ concordance only from 493 MZs with genetic markers It is natural to assume that if allele D (wild type allele is +) is in LD with true DSL, MZ twins with genotype DD or D+ should have more diseases, and thus concordance rate than those with ++ genotype. Numerically, the observed concordance rate of MZ twins will exceed the expected concordance rate under null hypothesis of non-association (Equation 1) Equation 1 H0: Obs (A*A|DD)= Obs (A*A |D+)= Obs (A*A |++) = (prevalence)2, H1: Obs(A*A|DD)>Obs(A*A|D+)>Obs(A*A|++) and Obs(U*U|DD)
ISSN
1832-4274
Language
English
URI
https://hdl.handle.net/10371/94266
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Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Others_보건학과
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