SNP alleles in human disease and evolution

Editorial: “Disease-Only” alleles and genotypes in complex disorders?

Autoimmune Disease Classification by Inverse Association with SNP Alleles

With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction of allele-specific disease associations for SNPs. In this work, we refine the...

Derived SNP Alleles are Used More Frequently than Ancestral Alleles as Risk-associated Variants in Common Human Diseases

Evolutionary aspects of the genetic architecture of common human diseases remain enigmatic. The results of more than 200 genome-wide association studies published to date were compiled in a catalog (). We used cataloged data to determine whether derived (mutant) alleles are associated with higher risk of human disease more frequently than ancestral alleles. We placed all allelic variants into t...

Evolution in diagnosis and treatment of Legg-Calve-Perthes disease

Legg-Calvé-Perthes disease (LCPD) is an idiopathic osteonecrosis of the femoral head with variable complications and resultant deformity of the femoral head and osteoarthritis. Suggested risk factors are acetabular retroversion, obesity, latitude, hyperactivity, and coagulopathy. The most commonly applied classification is based on radiolucency in the lateral pillar of the femoral head, which i...

Direct detection of null alleles in SNP genotyping data.

Pinpointing genetic associations in the human genome relies heavily on the accuracy of the underlying genotype data. Null alleles can generate significant inaccuracies in genotype data and can negatively affect the statistical power of a study. Existing quality control (QC) tests, including tests of Hardy-Weinberg equilibrium, are not sensitive enough to detect the presence of even moderately f...