ArticleGrowth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society2018
Growth hormone receptor (GHR) gene polymorphism and scoliosis in Prader-Willi syndrome.
Article in Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- The d3GHR carrier epigenome in Druze clan longevity.Scientific reports · 2024Article
- Postural-motor development, spinal range of movement and caregiver burden in Prader-Willi syndrome-associated scoliosis: an observational study.European journal of translational myology · 2024Article
- The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism-A Favorable Backdoor Mechanism for the GHR Function.International journal of molecular sciences · 2023Review
- Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Review
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveA 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.
designWe 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)].
resultsTwenty-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.
conclusionOur 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.
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