The genes encoding GABR subunits represent major candidates for idiopathic generalised epilepsy
susceptibility genes because of the widespread distribution of GABRs in the CNS, their ability to produce postsynaptic inhibition and their potential modulation by clinically important anticonvulsant drugs including benzodiazepines and barbiturates.
Frequency of germline mutations in 25 cancer
susceptibility genes in a sequential series of patients with breast cancer.
The NRG1gene is identified as a
susceptibility gene for schizophrenia by using association methodologies based on microsatellite markers, detecting SNPs.
TGFB1 as a
susceptibility gene for high myopia: a replication study with new findings.
Considering the growing number of PHEO
susceptibility genes and the well-established genotype-phenotype correlations for some of these gene mutations [3, 22], it is recommended that clinicians follow an algorithm based on the phenotype when requesting a genetic analysis [22, 23].
Of note, this patient is a young adult of 26 years old, and the presence of a germline variant in a known cancer
susceptibility gene may suggest that the PCC in this patient could be the first clinical expression of a hereditary disease still undefined.
However, in recent years, ring finger protein 213 ( RNF213 ) was identified as a
susceptibility gene among East Asian populations,[sup][1],[6] which resulted in a shift of people's attention to the relevant genetic factors.
In 2003, we reported peptidylariginine deiminase type 4 (PADI4) as a
susceptibility gene for RA in a Japanese population.
Only a small percentage of women inherit the same faulty gene, known as BRCA1 -- the name stands for breast cancer
susceptibility gene. These mutations are most commonly found in women of Eastern European Jewish descent, though other groups, including the Norwegian, Dutch and Icelandic, also have slightly higher rates of these mutations.
Tavtigian said originally, the gene we are currently studying, called RINT1, was not considered a human cancer
susceptibility gene. But then we discovered there was a two- to three-fold increase in risk for breast cancer in families that carry a mutation in that gene.
Because of a
susceptibility gene, emerging and getting rampant H7N9 flu virus may only infect residents of China.
However, apart from RNaseL-, ElaC2-, MSR1-genes, there are not other identified high-risk genetic variants which might be considered responsible for hereditary PC, moreover suggesting that familial PC is a genetically heterogeneous disease, many gene loci rather than a specific major
susceptibility gene predisposing to it.