Sentences with phrase «of a gene variant previously»

The increased risk closely correlates with the frequency of a gene variant previously associated with that adverse reaction, supporting recommendations to screen for that variant in patients from those populations.

Not exact matches

Professor Peter Kraft at Harvard TH Chan School of Public Health, USA, says: «Given the size of these studies, we expected that we would find a lot of new breast cancer risk variants, but the studies tells us a lot more about which genes are involved, revealing many previously unsuspected genes and genetic mechanisms underlying breast carcinogenesis.

«Here we show that the bitterness of sampled ethanol varies with genetic differences in bitter taste receptor genes, which suggests a likely mechanism to explain previously reported relationships between these gene variants and alcohol intake.»

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.

The effects of this previously discovered gene variant were analysed by utilising data from the unique and extensive METSIM study.

A new variant of the gene - editing CRISPR / Cas9 system is safer and more specific than versions previously used in early research towards a treatment for Huntington's disease, shows research published today in Frontiers in Neuroscience.

One of their findings was a variant in a gene called Ret that had not been previously associated with the disease, although other variations in Ret had been fingered as culprits.

«It is also possible that these data will reveal that some previously identified disease - associated sequence variants actually fall within a formerly unrecognized primary miRNA gene, thereby raising the possibility that such variants may influence expression of the encoded miRNA,» Mendell said.

The alliance will employ Illumina's platform for high - multiplex single - nucleotide polymorphism (SNP) genotyping to develop tests for gene variants deCODE has previously shown to have impact on the risk of a growing number of common diseases with major public health impact.

Deeper analyses, revealed that the RNA expression pattern of a rare variant of the NCAN gene was highly correlated with that of the previously suggested susceptibility genes for developmental dyslexia.

This signature of recent positive selection had previously been observed for coding variants in melanogenesis pathway genes.

One of the rare variant burden genes, TIMP3, was previously associated with Sorsby's fundus dystrophy, a rare disease similar to AMD but with earlier on set and Mendelian inheritance.

Having this gene variant increases the odds of having blood pressure that is sensitive to salt, the researchers determined previously.

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.

Their gene expression analysis throughout the protocol matched that of a previously published profile for hESCs [24], which included the significant upregulation of mesodermal and chondrogenic markers (PDGFRB, SOX6, SOX9, ACAN, COL2A1 types A and B), with the more mature COL2A1 type B splice variant [42] being more highly expressed by the end of stage 3.

The results from this study also revealed an association between the presence of XMRV and patients known to be homozygous for the R462Q variant of RNAse L, a gene previously linked to the hereditary prostate cancer 1 locus [4].

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CONCLUSIONS: Early - onset antisocial behavior in a high - risk clinical group is predicted by a specific COMT gene variant previously linked with prefrontal cortical function and birth weight, and those possessing the val / val genotype are more susceptible to the adverse effects of prenatal risk as indexed by lower birth weight.