ReviewHuman genomics2006
Functional single nucleotide polymorphism-based association studies.
Review in Human genomics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis.European journal of clinical pharmacology · 2021Pooled it
- The importance of gene polymorphism in familial inheritance of endometriosis.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Functional Variants of the RAD51 Gene Contribute to Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population.Orthodontics & craniofacial research · 2026Article
- Interactive effects between lead-cadmium co-exposure and VEGFA gene polymorphisms on renal dysfunction: a gene-environment interaction study.Frontiers in public health · 2025Article
- Potassium channels in depression: emerging roles and potential targets.Cell & bioscience · 2024Review
- Genetic architecture of hippocampus subfields volumes in Alzheimer's disease.CNS neuroscience & therapeutics · 2024Article
- Development and application of a 1K functional liquid chip for lactation performance in Bactrian camels.Frontiers in veterinary science · 2024Article
- Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.Cells · 2023Article
- IRAK3 modulates downstream innate immune signalling through its guanylate cyclase activity.Scientific reports · 2019Article
- Article
- Low pyrrolizidine alkaloid levels in perennial ryegrass is associated with the absence of a homospermidine synthase gene.BMC plant biology · 2018Article
- Identification of SNPs associated with muscle yield and quality traits using allelic-imbalance analyses of pooled RNA-Seq samples in rainbow trout.BMC genomics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs. LD-based association studies can be comprehensive for common causative variants, but they perform poorly for rare alleles. Conversely, functional SNP-based studies are efficient because they focus on the SNPs with the highest a priori chance of being associated. Our poor ability to predict the functional effect of SNPs, however, hampers attempts to make these studies comprehensive. Recent progress in comparative genomics, and evidence that functional elements tend to lie in conserved regions, promises to change the landscape, permitting functional SNP association studies to be carried out that comprehensively assess common and rare alleles. SNP genotyping technologies are already sufficient for such studies, but studies will require continued genomic sequencing of multiple species, research on the functional role of conserved sequences and additional SNP discovery and validation efforts (including targeted SNP discovery to identify the rare alleles in functional regions). With these resources, we expect that comprehensive functional SNP association studies will soon be possible.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.