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GHR

From SNPedia

is agene
is mentioned by
Full namegrowth hormone receptor
EntrezGene2690
PheGenI2690
VariationViewer2690
ClinVarGHR
GeneCardsGHR
dbSNP2690
DiseasesGHR
SADR2690
HugeNav2690
wikipediaGHR
googleGHR
gopubmedGHR
EVSGHR
HEFalMpGHR
MyGene2GHR
23andMeGHR
UniProtP10912
EnsemblENSG00000112964
OMIM600946
# SNPs32
 Max MagnitudeChromosome positionSummary
rs1060499692
rs121909357042,694,991
rs121909358042,688,934
rs121909359042,688,921
rs121909360042,699,978
rs121909361042,688,937
rs121909362042,699,919
rs121909363042,711,291
rs121909364042,711,312
rs121909365042,699,830
rs121909366042,699,892
rs121909367042,699,896
rs121909368042,699,899
rs121909369042,699,902
rs121909370042,629,069
rs121909371042,694,953
rs121909372042,694,985
rs121909373042,699,888
rs13188386042,473,453
rs294094442,489,040
rs34838342042,565,884
rs38564015231,909,478
rs45588036042,711,314
rs4590183242,626,104
rs6180042,719,137
rs6413484042,699,868
rs6873545242,631,162
rs689874342,602,390
rs730880281042,711,206
rs730880282042,713,519
rs730880308042,718,051
rs886037910042,699,943

The GHR gene on chromosome 5 encodes the growth hormone receptor. Mutations in the GHR gene can lead to altered sensitivity to growth hormone, resulting in abnormal height (among other characteristics).

There are 2 major forms of the GHR mRNA in humans, based on whether exon 3 is present or absent. The full-length form is the most prevalent form, but the isoform lacking exon 3, which is known as d3GHR or d3-GHR, is found in most populations worldwide at a low but still significant frequency (~10% of individuals in many populations are d3/d3 homozygotes). The d3-GHR form is generated from a GHR (germline) allele that lacks exon 3; it is not generated by alternative splicing.

An interesting although preliminary study published in 2017 concluded that males carrying two d3-GHR alleles lived ~10 years longer than those carrying one or more full-length alleles; on average, these males were also 1 inch taller, had lower serum IGF-1 levels, and were more responsive to growth hormone. Male centenarians were also more likely to have two d3-GHR alleles than non-centenarians. Note that these longevity effects were not seen in females.10.1126/sciadv.1602025

"The GH receptor exon 3 deletion is a marker of male-specific exceptional longevity associated with increased GH sensitivity and taller stature."

There are at least two SNPs that 'tag' the d3-GHR allele with near certainty, at least in Caucasian/European populations (and perhaps others) and that are also present on most genotyping chips. [PMID 23740230OA-icon.png],[PMID 17220348OA-icon.png] These SNPs, shown below with the tagging (minor) allele correlated with the d3-GHR allele, are: