Analysis of Polymorphisms of the Vitamin D Receptor, Estrogen Receptor, and Collagen Iα1 Genes and Their Relationship With Height in Children With Bone Cancer
The authors' objectives were to compare height at diagnosis of children
with bone tumors with that of Spanish reference children; to analyze the
frequency of the genotypes for the polymorphisms of the vitamin D receptor (VDR),
estrogen receptor (ER), and collagen Ialpha1 (COLIalpha1) genes in patients and
in healthy controls; and to test the relationship between the genetic markers and
height. PATIENTS AND METHODS: Height and weight at diagnosis were measured in 58
osteosarcoma and 36 Ewing sarcoma patients and compared with standards published
for Spanish reference children according to sex and age. For the molecular
analysis, genetic polymorphisms of the VDR (Fok I, Apa I, and TaqI), ER (Pvu II
and XbaI), and COLIalpha1 (Msc I) genes were characterized in 72 osteosarcoma and
53 Ewing sarcomas and in a group of 143 healthy matched children. RESULTS:
Osteosarcoma and Ewing sarcoma patients were significantly taller than Spanish
reference children. Osteosarcoma patients showed a significantly higher frequency
of the Ff genotype for the Fok I polymorphism (VDR gene) than the control group.
The odds ratio for this genotype was 1.78, with an increased relative risk of 78%
for heterozygous Ff carriers. Among Ewing sarcoma patients, this same genotype
was significantly associated with lower height than homozygotes (FF or ff).
CONCLUSIONS: Children with bone cancer are significantly taller than the
reference population, which may be influenced by the genotype for the Fok I
polymorphism of the VDR gene