His team found
a variant near the gene associated with earlier breast development in girls and, in boys, earlier voice - breaking.
The other finding was of
a variant near genes for several so - called semaphorins, proteins that guide developing nerve cells as they grow toward their final targets.
The other big hit, the team reports in the journal PLoS Genetics, was
a variant near a gene called AHR, which regulates how CYP1A2 is expressed.
An associated
variant near a gene may have nothing to do with that gene.
Not exact matches
The researchers found, for example, that extraversion was associated with
variants in the
gene WSCD2 and
near gene PCDH15; neuroticism was associated with
variants on chromosome 8p23.1 and
gene L3MBTL2.
McRae and colleagues found that the genetic
variants associated all lie in or
near genes that encode so - called odorant or olfactory receptors.
The study adds to evidence that
gene editing may need to be adapted to each patient's genome, to ensure there aren't
variants in DNA sequence in or
near the
gene being targeted that would throw off the technology.
The
variant lies
near a
gene called telomerase RNA component, or TERC, and earlier studies in animals have shown that low TERC expression is associated with shorter telomeres, and faster biological aging.
Some of the letter
variants were inside a
gene, while others were
near key
genes.
Several different
variants are all uniquely associated with pigmentation
near these
genes, and
variants in these
genes have been associated with pigmentation in animals.
Many cluster around sets of
genes associated with growth, including 21
variants found in or
near genes that regulate the building of bone.
The team identified
variants in a region
near the engrailed homeobox ‐ 1
gene (EN1) that were associated with bone mineral density in the lumbar area of the spine.
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.
By performing a meta - analysis of rare coding
variants in whole - exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number
variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging
variants in 3,488
genes previously identified as having a
near - complete depletion of loss - of - function
variants.