title: Frequency of the GPR7 Tyr135Phe allelic variant in lean and obese subjects.
abstract: BACKGROUND
  GPR7, the endogenous coupled receptor for neuropeptide B and neuropeptide W, is expressed in several regions of the central nervous system, which are involved in the regulation of feeding behavior. GPR7 affects the regulation of energy balance through a mechanism independent of leptin and melanocortin pathways.
  
  
  OBJECTIVE
  Aim of this study was to investigate whether GPR7 gene mutations can be detected in human subjects and, in that event, if they are differently distributed among lean and obese subjects.
  
  
  METHODS
  The coding region of GPR7 were sequenced in 150 obese patients and 100 normal-weight unrelated controls. Functional studies of the allelic variants were performed.
  
  
  RESULTS
  One genetic GPR7 variant was found (Tyr135Phe - rs33977775) in obese subjects (13.3%) and lean control (25%). Functional studies did not reveal significant differences between the wild type and the Tyr135Phe allelic variants in their NPW-mediated capacity to inhibit forskolin-induced cAMP production.
  
  
  CONCLUSIONS
  Screening of GPR7 gene mutations among lean and obese subjects revealed a Tyr135Phe allelic variant that was fairly common in the study population. As indicated by in vitro and in silico studies, this variant is unlikely to cause a functional derangement of the receptor.
authors.affiliation: Obesity Center, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Pelosini
authors.forename: M
authors.initials: M
authors.lastname: Maffei
authors.forename: G
authors.initials: G
authors.lastname: Ceccarini
authors.forename: M
authors.initials: M
authors.lastname: Marchi
authors.forename: A
authors.initials: A
authors.lastname: Marsili
authors.forename: G
authors.initials: G
authors.lastname: Galli
authors.forename: G
authors.initials: G
authors.lastname: Scartabelli
authors.forename: A
authors.initials: A
authors.lastname: Tamberi
authors.forename: F
authors.initials: F
authors.lastname: Latrofa
authors.forename: P
authors.initials: P
authors.lastname: Fierabracci
authors.forename: P
authors.initials: P
authors.lastname: Vitti
authors.forename: A
authors.initials: A
authors.lastname: Pinchera
authors.forename: F
authors.initials: F
authors.lastname: Santini
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics* / Q000502:physiology; D018013:Receptors, Neuropeptide / Q000235:genetics* / Q000502:physiology; D013851:Thinness / Q000235:genetics*
chemical_list: C485722:NPBWR1 protein, human; D043562:Receptors, G-Protein-Coupled; D018013:Receptors, Neuropeptide
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