ArticleBMC genetics2004
Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
Article in BMC genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 38 citations in OpenAlex.
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- Identification, analysis of deleterious SNPs of the human GSR gene and their effects on the structure and functions of associated proteins and other diseases.Scientific reports · 2022Article
- The GWAS Analysis of Body Size and Population Verification of Related SNPs in Hu Sheep.Frontiers in genetics · 2021Article
- SNP-SNP interactions within APOE gene influence plasma lipids in postmenopausal osteoporosis.Rheumatology international · 2011Article
- Composite likelihood-based inferences on genetic data from dependent loci.Journal of mathematical biology · 2011Article
- Estrogen receptor alpha polymorphisms and the risk of malignancies.Pathology oncology research : POR · 2010Article
- Low linkage disequilibrium in wild Anopheles gambiae s.l. populations.BMC genetics · 2010Article
- Association of transforming growth factor-β1 gene variants with risk of coal workers' pneumoconiosis.Journal of biomedical research · 2010Article
- Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis.BMC medical genetics · 2010Article
- Accurate haplotype inference for multiple linked single-nucleotide polymorphisms using sibship data.Genetics · 2006Article
- A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women.Human genetics · 2006Article
- Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.Human genetics · 2006Review
- Extreme population differences across Neuregulin 1 gene, with implications for association studies.Molecular psychiatry · 2006Article
- Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis.Journal of human genetics · 2006Article
- Association of PLXNA2 polymorphisms with vertebral fracture risk and bone mineral density in postmenopausal Korean population.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2006Article
- A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases.Journal of medical genetics · 2005Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe adequacy of association studies for complex diseases depends critically on the existence of linkage disequilibrium (LD) between functional alleles and surrounding SNP markers.
resultsWe examined the patterns of LD and haplotype distribution in eight candidate genes for osteoporosis and/or obesity using 31 SNPs in 1,873 subjects. These eight genes are apolipoprotein E (APOE), type I collagen alpha1 (COL1A1), estrogen receptor-alpha (ER-alpha), leptin receptor (LEPR), parathyroid hormone (PTH)/PTH-related peptide receptor type 1 (PTHR1), transforming growth factor-beta1 (TGF-beta1), uncoupling protein 3 (UCP3), and vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR). Yin yang haplotypes, two high-frequency haplotypes composed of completely mismatching SNP alleles, were examined. To quantify LD patterns, two common measures of LD, D' and r2, were calculated for the SNPs within the genes. The haplotype distribution varied in the different genes. Yin yang haplotypes were observed only in PTHR1 and UCP3. D' ranged from 0.020 to 1.000 with the average of 0.475, whereas the average r2 was 0.158 (ranging from 0.000 to 0.883). A decay of LD was observed as the intermarker distance increased, however, there was a great difference in LD characteristics of different genes or even in different regions within gene.
conclusionThe differences in haplotype distributions and LD patterns among the genes underscore the importance of characterizing genomic regions of interest prior to association studies.
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