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

Caenorhabditis elegans: cat-2
Danio rerio: th
Drosophila melanogaster: ple
Mus musculus: Th
Rattus norvegicus: Th

Studies (5)

Significant/Non-significant: 2/3

Study 1

Longevity Association

Population

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

Reference

Study 2

Longevity Association

Population

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

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Reference

Study 3

Longevity Association

Non-significant

Population

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

Reference

Study 4

Longevity Association

Non-significant

Population

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

Reference

Study 5

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.
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