rs696217

This is a variant in the GHRL gene that changes a leucine to an methionine.

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ClinVar annotation

Pathogenic★★★☆
6 submitters5 publications

Inherited obesity; Metabolic syndrome, susceptibility to; Obesity; Obesity, age at onset of

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Research that mentions this SNP (1)

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Possible role of preproghrelin gene polymorphisms in susceptibility to bulimia nervosa
AssociationN=140Tetsuya Ando et al.(2006)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This case-control study examined the Leu72Met polymorphism (c.214C>A, rs696217) in the GHRL ghrelin gene among 100 Ukrainian children with gastroesophageal reflux disease (GERD) versus 40 healthy controls. The GHRL 214CC (Leu/Leu) genotype was significantly associated with increased GERD risk (OR=3.37, 95% CI 1.50-7.56), while the 214CA (Leu/Met) heterozygous genotype was protective (OR=0.24, 95% CI 0.10-0.55). In boys specifically, the Leu/Leu genotype conferred over 6-fold increased GERD risk (OR=6.7, 95% CI 2.04-21.82).

Traits studied:Gastroesophageal reflux disease (GERD)
PubMedDOIMetascience Observatory

About GHRL

This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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