Growth hormone receptor gene polymorphism. Spontaneous catch up growth in small for gestational age patients.

NATALIA PEREZ GARRIDO; PUJANA M; BERGER M; PABLO RAMIREZ; GABRIELA GUERCIO; BELGOROSKY A; MARINO R

MEDICINA (BUENOS AIRES)

MEDICINA (BUENOS AIRES)

Lugar: Buenos Aires; Año: 2021 vol. 81 p. 574 - 580

0025-7680

The growth hormone receptor(GHR) mediates the effect of growth hormone (GH) on linear growth andmetabolism. In humans, it exists as two isoforms differing by the retention orexclusion of exon 3; a full-length GHR isoform (GHRfl) and the exon 3-deletedisoform that lacks exon 3 (GHRd3). The genotypic frequency of this polymorphismwas analyzed in several studies and in different human populations. Howeverscarce information in Argentinian population is available. Associations betweenGHRd3 and growth have been reported previously. Several studies have shown thatthe presence of GHRd3 polymorphism might be a potential variant that improve,in patients born small for gestational age (SGA), among others, growth responseto recombinant human GH (rhGH) therapy. However, over the years the resultshave been controversial and inconclusive. Based on this, it would be proposedthat variants at the genomic level are not completely reflected at the mRNAlevel.Ouraim was to evaluate the frequency of GHRd3 and GHRfl alleles in normalArgentinian population and SGA patients, and the expression of thesepolymorphisms at mRNA and DNA levels in placenta tissues were analyzed. Inaddition, their association with spontaneous postnatal catch-up growth in SGApatients was also evaluated. Inthis study, we show a significant increment of compensatory growth in SGAchildren associated to the presence of the GHRd3allele polymorphism. In addition, GHRexpression in healthy placentas revealed that no splicing mechanism in GHR expression would occur whichoriginates an isoform not present in the patient's genome.@font-face{font-family:"Cambria Math";panose-1:2 4 5 3 5 4 6 3 2 4;mso-font-charset:0;mso-generic-font-family:roman;mso-font-pitch:variable;mso-font-signature:-536870145 1107305727 0 0 415 0;}@font-face{font-family:Calibri;panose-1:2 15 5 2 2 2 4 3 2 4;mso-font-charset:0;mso-generic-font-family:swiss;mso-font-pitch:variable;mso-font-signature:-536859905 -1073732485 9 0 511 0;}p.MsoNormal, li.MsoNormal, div.MsoNormal{mso-style-unhide:no;mso-style-qformat:yes;mso-style-parent:"";margin-top:0cm;margin-right:0cm;margin-bottom:10.0pt;margin-left:0cm;line-height:115%;mso-pagination:widow-orphan;font-size:11.0pt;font-family:"Calibri",sans-serif;mso-fareast-font-family:Calibri;mso-bidi-font-family:"Times New Roman";mso-fareast-language:EN-US;}.MsoChpDefault{mso-style-type:export-only;mso-default-props:yes;font-size:10.0pt;mso-ansi-font-size:10.0pt;mso-bidi-font-size:10.0pt;font-family:"Calibri",sans-serif;mso-ascii-font-family:Calibri;mso-fareast-font-family:Calibri;mso-hansi-font-family:Calibri;}div.WordSection1{page:WordSection1;}@font-face{font-family:"Cambria Math";panose-1:2 4 5 3 5 4 6 3 2 4;mso-font-charset:0;mso-generic-font-family:roman;mso-font-pitch:variable;mso-font-signature:-536870145 1107305727 0 0 415 0;}@font-face{font-family:Calibri;panose-1:2 15 5 2 2 2 4 3 2 4;mso-font-charset:0;mso-generic-font-family:swiss;mso-font-pitch:variable;mso-font-signature:-536859905 -1073732485 9 0 511 0;}p.MsoNormal, li.MsoNormal, div.MsoNormal{mso-style-unhide:no;mso-style-qformat:yes;mso-style-parent:"";margin-top:0cm;margin-right:0cm;margin-bottom:10.0pt;margin-left:0cm;line-height:115%;mso-pagination:widow-orphan;font-size:11.0pt;font-family:"Calibri",sans-serif;mso-fareast-font-family:Calibri;mso-bidi-font-family:"Times New Roman";mso-fareast-language:EN-US;}.MsoChpDefault{mso-style-type:export-only;mso-default-props:yes;font-size:10.0pt;mso-ansi-font-size:10.0pt;mso-bidi-font-size:10.0pt;font-family:"Calibri",sans-serif;mso-ascii-font-family:Calibri;mso-fareast-font-family:Calibri;mso-hansi-font-family:Calibri;}div.WordSection1{page:WordSection1;}