No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor
نویسندگان
چکیده
منابع مشابه
Genome-wide association study in essential tremor identifies three new loci
We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown. We included 2807 patients and 6441 controls of European descent in our two-st...
متن کاملCTNNA3 (α-catenin) gene variants are associated with diisocyanate asthma: a replication study in a Caucasian worker population.
Recently, a genome-wide association study (GWAS) conducted in Korean subjects identified four CTNNA3 (alpha-T catenin) single nucleotide polymorphisms (SNPs) (rs10762058, rs7088181, rs1786929, and rs4378283) associated with diisocyanate-induced occupational asthma (DA). The CTNNA3 gene codes for a cadherin involved in formation of stretch-resistant cell-cell adhesions. We conducted a candidate ...
متن کاملGenetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive
Sepsis is a life-threatening organ dysfunction caused by dysregulated host response to infection. For its clinical course, host genetic factors are important and rare genomic variants are suspected to contribute. We sequenced the exomes of 59 Greek and 15 German patients with bacterial sepsis divided into two groups with extremely different disease courses. Variant analysis was focusing on rare...
متن کاملAre patients with limb and head tremor a clinically distinct subtype of essential tremor?
BACKGROUND Essential tremor (ET) is the most common tremor disorder in adults. In addition to upper limbs, the tremor in ET may also involve head, jaw, voice, tongue, and trunk. Though head tremor (HT) is commonly present in patients with ET, large comparative studies of ET patients with HT (HT+) and without HT (HT-) are few. METHODS To determine whether ET with HT is a distinct clinical subt...
متن کاملSLC1A2 Variant Is Associated with Essential Tremor in Taiwanese Population
Essential tremor (ET), which is one of the most common movement disorders, may lead to severe interference in quality of life. The first genome-wide association study (GWAS) has identified an association of the LINGO1 variant (rs9652490) with ET in Americans and Europeans. Recently, a second GWAS that was performed in a European population has discovered a new variant (rs3794087) of the main gl...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2017
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000195