LongevityMap Gene

Gene details

HGNC symbol
TH 
Aliases
TYH; DYT14; DYT5b 
Common name
tyrosine hydroxylase 
Description
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
OMIM
191290
Ensembl
ENSG00000180176
UniProt/Swiss-Prot
P78428_HUMAN
Entrez Gene
7054
UniGene
435609
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
th
Drosophila melanogaster
ple
Mus musculus
Th
Rattus norvegicus
Th

Studies (5)

Significant/Non-significant: 2/3

Study 1

Longevity Association
Non-significant
Population
German
Study Design
The TH01 short tandem repeat polymorphism was studied for longevity association in 471 long-lived individuals (96-110 years) and 462 younger controls (19-75 years) from Germany
Conclusions
No association between TH01 and longevity was observed
Indentifier
TH01
Reference

    Study 2

    Longevity Association
    Significant
    Population
    Italian
    Study Design
    Polymorphic repeats in intron 1 (Short and Long alleles) were examined in 196 centenarians (143 females and 53 males) and 358 controls (196 females and 162 male; 10-85 years old)
    Conclusions
    A significant loss of LL homozygous genotypes was found at the THO locus in male but not in female centenarians with respect to matched controls
    Indentifier
    TH
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      European
      Study Design
      The chromosomal region 11p.15.5 was investigated in 1321 centenarians and 1140 younger subjects from European samples
      Conclusions
      No significant results were observed for genes previously associated with longevity: TH, IGF2, INS and HRAS1
      Indentifier
      TH
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Italian (Southern)
        Study Design
        A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
        Conclusions
        After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
        Indentifier
        rs2070762
        Reference

          Study 5

          Longevity Association
          Significant
          Population
          Italian
          Study Design
          An STR marker (HUMTHO1.STR) lies inside TH intron 1 a region involved in RNA alternative splicing of the TH primary transcript for generating four tissue-specific types of mRNA. Association between HUMTHO1 variability (alleles 6, 7, 8, 9, 10*, 10 as defined according to the number of repeats) and longevity was examined in 210 centenarians (68 males and 142 females) and 755 controls (from 13 to 99 years).
          Conclusions
          Among all the alleles examined, allele 10* (10 imperfect repeats) shows a remarkable dominant and beneficial effect in both heterozygous and homozygous genotypes that reduces the log hazard of death in an additive manner
          Indentifier
          TH
          Reference