ASHG 2015: Common
Gene Variant Linked to Chromosome Errors and Early Pregnancy Loss ASHG Press Release — October 8, 2015
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Gene variant linked to schizophrenia, bipolar disorder, alcoholism.»
The gene variant linked to graying is found only in people with European ancestry, and it has previously been associated with light hair colors.
Researchers at Karolinska Institutet, and the Sahlgrenska Academy at Gothenburg University in Sweden have identified
a gene variant linked to psychotic symptoms and cognitive impairment in people with bipolar disorder.
We did not find any evidence for a so - called «positive selection» but instead found that many
gene variants linked to schizophrenia reside in regions of the genome in which natural selection is not very effective in the first place.
Last week, Nature reported that Pier Valerio Reinotti, an appeal court judge in Trieste, Italy, cut Bayout's sentence by a year after finding out he has
gene variants linked to aggression.
After analyzing human DNA from several populations around the world and examining primate genomes dating back to the shared ancestor of both humans and chimpanzees, researchers reached a striking conclusion that several
gene variants linked to schizophrenia were actually positively selected and remained largely unchanged over time, suggesting that there was some advantage to having them.
«Identifying
these gene variants linked to both type 2 diabetes and CHD risk in principle opens up opportunities to lower the risk of both outcomes with a single drug,» said study co-senior author Danish Saleheen, PhD, an assistant professor of Biostatistics and Epidemiology.
Not exact matches
The company will now be able to sell health risk reports on three
variants found on the BRCA1 and BRCA2
genes, which are
linked with a higher risk of breast, ovarian, and prostate cancer.
In 2008, researchers
linked variants in the
gene to the strong, frightful reaction some people have to horror movies.
Three of the darker - skin
gene variants appear to have evolved from
variants linked with less pigment.
Their landmark findings will open the door to identify
gene variants controlling skin microbiota and to define their
link to various diseases such as skin inflammatory disorders.
To
link, at a molecular level, a
gene variant with biochemical changes and clinical symptoms related to a heritable psychiatric disorder, as in this present study, is therefore something of a breakthrough.
MUSICAL ability is
linked to
gene variants that help control social bonding.
They discovered that several genetic
variants in the hunter - gatherers were
linked to a
gene associated with physical performance, which they hypothesise could be part of the physiological adaptation to cold.
Other
gene variants — like mutations in FTO or the
gene for leptin, an energy - balancing hormone — had been
linked to overeating or fat cell type.
The team also examined data from a prior genetic study of children with asthma and found that a
variant of the dectin - 1
gene — which reduces production of the receptor — is strongly
linked to increased asthma risk.
New genome - sequencing research suggests white European people with two copies of
variant forms of MC1R, a
gene linked to pale skin and red hair, have faces that appear up to two years older than those who are the same age but don't have both copies.
These discoveries build upon previous findings about
genes linked to Alzheimer's, such as the APOE - 4
gene, which is a powerful marker for late - onset Alzheimer's disease; about 40 percent of those diagnosed have this DNA
variant.
A
variant of this
gene has been
linked to aches in response to statins.
Gene variants have been
linked to elevated risks for disorders from Alzheimer's disease to breast cancer, and they may help explain why, for example, some smokers develop lung cancer whereas many others don't.
The
variant is in a
gene called HMGA2, which has previously been
linked with people's height.
A study of people from an isolated village in the Netherlands reveals a
link between rare
variants in the
gene NKPD1 and depressive symptoms.
Interestingly, a
variant of the WNT10A
gene associated with lower levels of its protein's expression has been
linked to a greater likelihood of male pattern baldness, according to a recent genome - wide association study.
Their analysis — which used DNA data from a Neandertal woman from the Altai Mountains in Siberia (SN: 1/25/14, p. 17) and 112,338 present - day British people — confirmed some
links between Neandertal heritage and human diseases made by previous studies (SN: 3/5/16, p. 18), but didn't find evidence that Neandertal
gene variants contribute to obesity.
This year, however, researchers
linked variants of more than 50
genes to increased risk for a dozen diseases.
Results from the analysis confirmed previous findings of some copy number
variants already associated with autism, but they also found a host of other
genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome —
linked DDX53 - PTCHD1 locus) in which mutations seem to be
linked to autism.
The scientists have also
linked the
gene variant to a mechanism that explains the elevated risk and offers clues about the broader anti-viral immune response.
Genetic screening later revealed that 24 percent of centenarians from Ashkenazi Jewish populations carry a
variant in the CETP
gene — an enzyme important for cholesterol metabolism — that reduces the level of the protein CETP in the blood and is
linked to a lower prevalence of hypertension, cardiovascular disease and memory loss.
A
variant in the
gene for this receptor previously had been
linked to asthma in genetic studies, but the potential role of the receptor, called CDHR3, in asthma was unknown.
«Surprisingly, when we looked for shared
gene variants that might help explain part of the
link between migraine and heart disease, we found no shared
gene variations between migraine with aura and heart disease,» said study author Aarno Palotie, MD, of the Broad Institute of MIT and Harvard.
Stice's group also genotyped these young women to determine whether or not they possessed
variant alleles of two
genes (DRD2 Taq1A A1 and DRD4 - 7 +) that have been
linked with lower dopamine activity and, in some studies, obesity.
«Men with the
gene variant that is
linked to aggression may be less able to inhibit their emotional responses»
PEOPLE with a
gene variant known to be
linked to aggression may have been born with key brain differences that could make them more likely to snap under pressure.
With their analyses of the genome data, the scientists were also able to identify eight specific
gene variants that are strongly
linked to altered risk for both diseases.
Additional studies showed that other CYP
gene variants are
linked to the rapid metabolism of clopidogrel and that patients with those
variants had a higher risk of bleeding.
There's also a genetic component: The condition, which can occur at any age, often runs in families and specific
gene variants have been
linked to it.
These scientists studied whether a
gene variant in the FTO
gene, which regulates the appetite and thereby increases the individual's BMI, is also
linked to a series of cardiovascular diseases and metabolism.
Also, a number of large - scale genomics studies have
linked variants of the CPEB4
gene with the impairment of fat metabolism.
The Neurogenomiks research group,
linked to the Achucarro Basque Centre for Neuroscience (EHUgroup) and the University of the Basque Country (UPV / EHU), has just had a research article published in the scientific publication Journal of Immunology; it details how they have managed to show that the
gene known as ANKRD55 produces 3 different transcripts of the messenger RNA, and that the genetic
variant associated with MS greatly increases the production of these transcripts.
To probe the
link between
gene and virus, neuroscientist HowardFederoff, of the University of Rochester School of Medicine, and his colleagues created mouse - cell cultures that expressed either theAPOE - e4
gene or another
variant (APOE - e2 or APOE - e3), then infected the cells with herpes.
About 30 years ago, scientists found a
link between MS and certain
variants in the major histocompatibility complex (MHC), a cluster of
genes that help the immune system distinguish between the body's own proteins and those of microbial invaders.
But specific
gene variants are also
linked to greater risks of developing many of these diseases.
They then used the model to predict how autism -
linked variants in the NHE9
gene would affect the protein's shape and function.
Other medical sequencing projects will use DNA sequencing to: discover new
genes that are involved in common diseases; identify the
genes responsible for dozens of relatively rare, single -
gene (autosomal Mendelian) diseases; sequence all of the
genes on the X chromosome from affected individuals to identify those involved in sex -
linked diseases; and survey the range of
variants in
genes known to contribute to certain common diseases.
After looking at 9 million genetic
variants in those who were asparagus anosmic, they
linked this deficiency to 871 individual sequence variations they discovered in chromosome 1, on
genes associated with our sense of smell.
This finding underscores the role of genetics in the pathogenesis of this devastating illness, and represents a critical milestone on the way to identifying a
gene and its disease -
linked variants.
At the time of the initial Fetalis results assessment of Case 7 in May 2015, there had been no published reports directly
linking ZIC1
gene variants to a recognizable pathological phenotype and thus, in accordance with our testing and reporting guidelines, the maternally inherited ZIC1
gene variant was reported as a VOUS.
In 2007, researchers found that
variants of the FTO
gene were
linked to obesity, but despite intense scrutiny, no direct
link was found.
Nearly all of the affected children had the HLA - QB * 06:02
gene variant already
linked with narcolepsy.