کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4502964 1320613 2008 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mathematical properties of the r2r2 measure of linkage disequilibrium
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک علوم کشاورزی و بیولوژیک (عمومی)
پیش نمایش صفحه اول مقاله
Mathematical properties of the r2r2 measure of linkage disequilibrium
چکیده انگلیسی

Statistics for linkage disequilibrium (LD), the non-random association of alleles at two loci, depend on the frequencies of the alleles at the loci under consideration. Here, we examine the r2r2 measure of LD and its mathematical relationship to allele frequencies, quantifying the constraints on its maximum value. Assuming independent uniform distributions for the allele frequencies of two biallelic loci, we find that the mean maximum value of r2r2 is ∼0.43051, and that r2r2 can exceed a threshold of 4/5 in only ∼14.232% of the allele frequency space. If one locus is assumed to have known allele frequencies–the situation in an association study in which LD between a known marker locus and an unknown trait locus is of interest–we find that the mean maximum value of r2r2 is greatest when the known locus has a minor allele frequency of ∼0.30131. We find that in 1/4 of the space of allowed values of minor allele frequencies and haplotype frequencies at a pair of loci, the unconstrained maximum r2r2 allowing for the possibility of recombination between the loci exceeds the constrained maximum assuming that no recombination has occurred. Finally, we use rmax2 to examine the connection between r2r2 and the D′D′ measure of linkage disequilibrium, finding that r2/rmax2=D′2 for ∼72.683% of the space of allowed values of (pa,pb,pab)(pa,pb,pab). Our results concerning the properties of r2r2 have the potential to inform the interpretation of unusual LD behavior and to assist in the design of LD-based association-mapping studies.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Theoretical Population Biology - Volume 74, Issue 1, August 2008, Pages 130–137
نویسندگان
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