rs82334
This variant is located in the HTT gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
frailty measurement
▶Research that mentions this SNP (1)
▶Ancient origin of the CAG expansion causing Huntington disease in a Spanish populationCase reportN=115Javier García-Planells et al.(2005)· Human Mutation
This study investigates the genetic history and evolutionary origin of Huntington disease mutations in 83 Spanish families from the Land of Valencia. Using haplotype analysis of five polymorphic markers (rs1313770, rs82334, HD/CCG repeat, D4S126, D4S3034), the authors identified that over 56% of affected chromosomes carry a shared ancestral haplotype H1 (A-7-A), suggesting a single ancient founder event. Mathematical modeling using two independent approaches (Serre's method and Monte Carlo likelihood) estimates the CAG expansion associated with haplotype H1 originated between 4,700 and 10,000 years ago, likely during the Neolithic expansion into Europe.
About HTT
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
View all HTT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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