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. 2018 Apr;39:29-33.
doi: 10.1016/j.ghir.2017.12.001. Epub 2017 Dec 6.

Growth Hormone Receptor (GHR) Gene Polymorphism and Scoliosis in Prader-Willi Syndrome

Free PMC article

Growth Hormone Receptor (GHR) Gene Polymorphism and Scoliosis in Prader-Willi Syndrome

Merlin G Butler et al. Growth Horm IGF Res. .
Free PMC article


Objective: A growth hormone receptor (GHR) gene polymorphism impacts sensitivity to endogenous and exogenous growth hormone (GH) to moderate growth and development. Increased sensitivity may accelerate spinal growth and contribute to scoliosis, particularly in GH-deficient and treated populations such as Prader-Willi syndrome (PWS). Therefore, we examined the relationship between GHR genotype and scoliosis (case and control) in PWS cohorts.

Design: We utilized a case-control design in a study of 73 subjects (34M; 39F) with genetically confirmed PWS in 32 individuals previously diagnosed with moderate to severe scoliosis (mean age=16.9±10.2years; age range of 1 to 41years) and 41 adults with no evidence of scoliosis (mean age=30.8±9.7years; age range of 18 to 56years). The GHR gene polymorphism was determined using PCR specific primers to capture the two recognized GHR gene fragment sizes [i.e., full length (fl) or exon 3 deletions (d3)].

Results: Twenty-three (72%) of the 32 case subjects with scoliosis required surgical correction with an approximately equal balance for gender and PWS genetic subtype among cases and 41 control subjects without scoliosis. The GHR d3/d3 genotype was identified in N=2 of 8 (25%) cases with scoliosis and the d3/fl genotype was identified in N=11 of 25 (44%) cases with scoliosis but the distribution difference did not statistically differ. The GHR fl/fl genotype was correlated with a significantly faster rate and heavier weight gain among case subjects.

Conclusion: Our examination of demographic and genetic markers associated with scoliosis and surgical repair in PWS found no evidence to support differences in gender, PWS genetic subtype or GHR d3 allele distributions among the case vs control groups. Those with fl/fl alleles were heavier than those with d3/d3 or d3/fl genotypes and warrant further study with a larger sample size and possibly to include other vulnerable populations requiring growth hormone treatment.

Keywords: GHR d3 allele; Growth hormone receptor (GHR) polymorphism; Growth hormone treatment; Prader-Willi syndrome (PWS); Scoliosis.

Conflict of interest statement

Conflict of interest

The submitted manuscript contains original material not submitted or under consideration elsewhere and addresses an important issue in the treatment and care of individuals with Prader-Willi syndrome. We have no conflict of interests in the conduct and reporting of this research to declare.


Fig. 1.
Fig. 1.
Representative examples of growth hormone receptor gene (GHR) alleles using polymerase chain reaction to identify the wild type fl/fl; heterozygous fl/d3 and homozygous exon-3 deletion (d3/d3) alleles.
Fig. 2.
Fig. 2.
Scatter plot representations of height (A, B) and weight (C, D) for scoliosis cases (A, C) and control (B, D) subjects with Prader-Willi syndrome. Open squares with solid trendlines represent individuals with the fl/fl genotype. Closed circles with dotted trendlines indicate individuals with a d3/d3 or d3/fl genotype. Scoliosis case subjects homozygous for the d3/d3 allele are highlighted with arrows.

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