Endocrinol Metab.  2015 Sep;30(3):312-317. 10.3803/EnM.2015.30.3.312.

Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly

• Park HY
• Hwang IR
• Seo JB
• Kim SW
• Seo HA
• Lee IK
• Kim JG

• KMID: 2407082
• DOI: http://doi.org/10.3803/EnM.2015.30.3.312

Abstract

BACKGROUND
This study investigated the association between the frequency of growth hormone receptor (GHR) exon 3 polymorphism (exon 3 deletion; d3-GHR) and metabolic factors in patients with acromegaly in Korea.
METHODS
DNA was extracted from the peripheral blood of 30 unrelated patients with acromegaly. GHR genotypes were evaluated by polymerase chain reaction and correlated with demographic data and laboratory parameters.
RESULTS
No patient had the d3/d3 genotype, while four (13.3%) had the d3/fl genotype, and 26 (86.7%) had the fl/fl genotype. Body mass index (BMI) in patients with the d3/fl genotype was significantly higher than in those with the fl/fl genotype (P=0.001). Age, gender, blood pressure, insulin-like growth factor-1, growth hormone, fasting plasma glucose, triglycerides, high density lipoprotein cholesterol, and low density lipoprotein cholesterol levels showed no significant differences between the two genotypes.
CONCLUSION
The d3-GHR polymorphism may be associated with high BMI but not with other demographic characteristics or laboratory parameters.

Keyword

Growth hormone receptor exon 3 deletion; Polymorphism; Acromegaly; Body mass index; Fasting plasma glucose

MeSH Terms

Acromegaly*
Blood Glucose
Blood Pressure
Body Mass Index
Cholesterol, HDL
Cholesterol, LDL
DNA
Exons
Fasting
Genotype
Growth Hormone*
Humans
Korea
Polymerase Chain Reaction
Receptors, Somatotropin*
Triglycerides
Cholesterol, HDL
Cholesterol, LDL
DNA
Growth Hormone
Receptors, Somatotropin
Triglycerides

Figure

• 

  Fig. 1 Scatter plot of growth hormone receptor exon 3 deletion gene polymorphism and body mass index (BMI). aBMI was significantly higher in patients with the d3/fl genotype compred to fl/fl.

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