Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase

Article Abstract:

Nucleotide-sequence variation in human lipoprotein lipase has been studied and some population genetic inferences have been drawn from the study. Two major clades which seem to be very old were found in a scoring of allelic variation of 9.7 kb of genomic DNA sequence from the human lipoprotein lipase gene (LPL) (ital). The scoring involved 71 healthy subjects from African American, Finnish and non-Hispanic white populations. A rich history of past recombination was indicated. Nevertheless extensive linkage disequilibrium was seen. The number of haplotypes is far greater than would be expected given the infinite-sites model. It appears that design and interpretation of disease-association studies may not be as straightforward as is generally assumed. Population founding, selection, drift, and recombination may occur in complex historical patterns and may be factors to consider.

author: Clark, Andrew G., Vartiainen, Erkki, Buchanan, Anne, Boerwinkle, Eric, Sing, Charles F., Weiss, Kenneth M., Nickerson, Deborah A., Perola, Markus, Taylor, Scott L., Stengard, Jari, Salomaa, Veikko
Planning, Chromosome mapping, Cladistic analysis, Experimental design, Research design, Lipoprotein lipase

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Multiple genes for essential-hypertension susceptibility on chromosome 1q

Article Abstract:

Essential-hypertension defined as elevated levels of blood pressure (BP) is a major risk factor for coronary heart disease, stroke and renal disease. Genomewide linkage and candidate-gene-based association studies demonstrates that a replicated linkage peak for BP regulation on human chromosome 1q, homologous to mouse and rat quantitative trait loci for BP contains three genes associated with BP levels in multiple samples.

author: Cooper, Richard S., Rao, D.C., Weder, Alan B., Boerwinkle, Eric, Kardia, Sharon L.R., Xin Liu, Yen-Pei Christy Chang, Kim, James Dae Ok, Ikeda, Moma A., Layton, Marnie R., Hunt, Steve C., Luke, Amy, Chakravarti, Arvinda
Hypertension, Risk factors, Heart diseases

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The quantitative LOD score: test statistic and sample size for exclusion and linkage of quantitative traits in human sibships

Article Abstract:

A test statistic, the quantitive LOD (QLOD) score can be used for the testing of both exclusion and linkage of quantitative-trait loci in randomly selected human sibships. The boundary values of 3 for linkage and -2 for exclusion can be used for the score. Sample sizes needed have been investigated.

author: Boerwinkle, Eric, Amos, Christopher I., Page, Grier P.
Statistics, Genetic markers, Brothers and sisters, Medical statistics, Linkage (Genetics)

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subjects list: Research, United States, Usage, Genetic aspects, Genetic disorders
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