ArticleJournal of medical genetics2005
A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 50 citations in OpenAlex.
- Article
- Hap10: reconstructing accurate and long polyploid haplotypes using linked reads.BMC bioinformatics · 2020Article
- Complex Haplotypes ofG3 (Bethesda, Md.) · 2018Article
- The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking.International journal of molecular sciences · 2015Article
- The power comparison of the haplotype-based collapsing tests and the variant-based collapsing tests for detecting rare variants in pedigrees.BMC genomics · 2014Article
- A hidden Markov model for haplotype inference for present-absent data of clustered genes using identified haplotypes and haplotype patterns.Frontiers in genetics · 2014Article
- Detecting rare haplotype-environment interaction with logistic Bayesian LASSO.Genetic epidemiology · 2014Article
- Diplotyper: diplotype-based association analysis.BMC medical genomics · 2013Article
- The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population.PloS one · 2013Article
- Haplotype-based methods for detecting uncommon causal variants with common SNPs.Genetic epidemiology · 2012Article
- Efficacy of vitamin D3-fortified-yogurt drink on anthropometric, metabolic, inflammatory and oxidative stress biomarkers according to vitamin D receptor gene polymorphisms in type 2 diabetic patients: a study protocol for a randomized controlled clinical trial.BMC endocrine disorders · 2011Article
- A Bayesian hierarchical model for detecting haplotype-haplotype and haplotype-environment interactions in genetic association studies.Human heredity · 2011Article
- Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010Article
- An NOS3 Haplotype is Protective against Hypertension in a Caucasian Population.International journal of hypertension · 2010Article
- Article
- Genome-wide association studies: progress and potential for drug discovery and development.Nature reviews. Drug discovery · 2008Review
- 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.American journal of respiratory and critical care medicine · 2007Article
- Vitamin D receptor haplotypes protect against development of colorectal cancer.European journal of clinical pharmacology · 2007Article
- Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.Diabetologia · 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
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe haplotype based association method offers a powerful approach to complex disease gene mapping. In this method, a few common haplotypes that account for the vast majority of chromosomes in the populations are usually examined for association with disease phenotypes. This brings us to a critical question of whether rare haplotypes play an important role in influencing disease susceptibility and thus should not be ignored in the design and execution of association studies.
methodsTo address this question we surveyed, in a large sample of 1873 white subjects, six candidate genes for osteoporosis (a common late onset bone disorder), which had 29 SNPs, an average marker density of 13 kb, and covered a total of 377 kb of the DNA sequence.
resultsOur empirical data demonstrated that two rare haplotypes of the parathyroid hormone (PTH)/PTH related peptide receptor type 1 and vitamin D receptor genes (PTHR1 and VDR) with frequencies of 1.1% and 2.9%, respectively, had significant effects on osteoporosis phenotypes (p = 4.2 x 10(-6) and p = 1.6 x 10(-4), respectively). Large phenotypic differences (4.0 approximately 5.0%) were observed between carriers of these rare haplotypes and non-carriers. Carriers of the two rare haplotypes showed quantitatively continuous variation in the population and were derived from a wide spectrum rather than from one extreme tail of the population phenotype distribution.
conclusionsThese findings indicate that rare haplotypes/variants are important for disease susceptibility and cannot be ignored in genetics studies of complex diseases. The study has profound implications for association studies and applications of the HapMap project.
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