LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A sample of 277 unrelated individuals (>70 years old, mean age, 82.9) was recruited in 2000 and genotyped. On the basis of mortality data collected in 2009, the sample was divided into two groups of subjects surviving over 90 years (long-lived) or not (controls).
Conclusions
The frequency of the FSHR 680 Ser/Ser genotype was significantly higher in the sample of long-lived women compared to controls, indicating that the FSHR 680 Ser/Ser genotype may favor survival to more than 90 years of age in women only
Identifier
rs6166
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser

Gene details

HGNC symbol
FSHR
Aliases
LGR1; ODG1; FSHR1; FSHRO 
Common name
follicle stimulating hormone receptor 
Description
The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
OMIM
136435
Ensembl
ENSG00000170820
UniProt/Swiss-Prot
A0A1D5RMN4_HUMAN
Entrez Gene
2492
UniGene
1428
HapMap
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Homologs in model organisms

Danio rerio
fshr
Mus musculus
Fshr
Rattus norvegicus
Fshr

References

Corbo et al. (2013)

Other variants which are also part of this study