Of particular interest was that four of the 10 sites most strongly linked to the AOSI scores were located
near genes linked to Prader - Willi syndrome, a genetic disorder that shares some behavioral symptoms with autism.
Not exact matches
After
gene - typing about 3,000 people, Sturm found that how OCA2 is expressed — and how much pigment a person has — is strongly
linked to three single nucleotide polymorphisms (SNPs), or single letter variations, in a DNA sequence
near the OCA2
gene.
Although they have not been implicated directly in pancreatic function, genomewide association studies have
linked the presence of a mutation
near the
genes to an impaired ability to properly manage fasting blood - glucose levels.
In the first paper, utilizing genomic analysis of nearly 8,500 Icelandic and Dutch participants, the deCODE team identified a novel, tightly -
linked pair of single - letter variants (SNPs)
near the ASIP (agouti signaling protein)
gene on chromosome 20 that greatly increase the likelihood of an individual being prone to freckles and sunburn.
Currently and in the
near future, resources such as the Kaiser Permanente Research Program on
Genes, Environment and Health; the UK Biobank; the VA Million Veteran Program; and others are making available genetic data
linked to comprehensive EHR - based clinical outcomes and traits on over a million people.
A
link between
genes near an individual's disrupted transcription factor binding sites and their phenotype data is established in this paper, in a further foray beyond the exome: http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004711.