ESR1

Gene Name:

estrogen receptor 1

Synonyms:

ER-alpha

Chromosome:

6

Chromosomal Location:

152,128,454: 152,424,406

Entrez Gene ID:

2099

OMIM ID:

133430

UNIPROT ID:

P03372

Function:

nuclear estrogen receptor

Phenotype/Disease:

migraine, dysmenorrhea, osteoarthritis pain

Pain Data in Humans:

ESR1-v1

Variant Type:

common polymorphism

Variant ID:

594G>A

Phenotype/Disease:

any migraine

SNP ID:

rs2228480

SNP Type:

coding, synonymous

Minor Allele:

A

Phenotype of Minor Allele:

higher risk of any migraine

Reference(s):

Schürks et al., 2010

Notes:

Schurks et al., 2010 is a meta-analysis of data from polymorphisms that had been investigated in two or more studies up until August 2009. The same analysis finds no assocation for Pvu II C>T (rs2234693) variant or an insert polymorphism in the progesterone receptor.

ESR1-v2

Variant Type:

common polymorphism

Variant ID:

325C>G

Phenotype/Disease:

any migraine

SNP ID:

rs1801132

SNP Type:

coding, synonymous

Minor Allele:

G

Phenotype of Minor Allele:

higher risk of any migraine, higher VAS report in women with degenerative spondylolisthesis

Reference(s):

Schürks et al., 2010

Roh et al., 2013

Notes:

Schurks et al., 2010 is a meta-analysis of data from polymorphisms that had been investigated in two or more studies up until August 2009. The same analysis finds no assocation for Pvu II C>T (SNP rs2234693) variant or an insert polymorphism in the progesterone receptor.

ESR1-v3

Variant Type:

common polymorphism

Variant ID:

Pvu II C>T

Phenotype/Disease:

dysmenorrhea

SNP ID:

rs2234693

SNP Type:

intronic

Minor Allele:

C

Phenotype of Minor Allele:

higher risk of dysmenorrhea

Reference(s):

Woo et al., 2010

ESR1-v4

Variant Type:

haplotype

Variant ID:

Pvu II C>T and Xba I G>A

Phenotype/Disease:

osteoarthritis pain in women

SNP ID:

rs2234693, rs9340799

SNP Type:

intronic

Minor Allele:

C, G

Phenotype of Minor Allele:

higher risk of moderate to severe pain in women with TMJ osteoarthritis, higher pain intensity in women with degenerative spondylolisthesis

Reference(s):

Kang et al., 2007

Roh et al., 2013

Notes:

Negative findings: Kim et al., 2010 report no significant assocation for the same variants to temporomandibular disorders.

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ESR1

ESR1-v1

ESR1-v2

ESR1-v3

ESR1-v4

Research Resources

Harvard NeuroDiscovery Center

Collaborating to cure Neurodegenerative Disease

Mass General Institute for Neurodegenerative Disease