No association between body mass index and beta(3)-adrenergic receptor variant (W64R) in children with premature pubarche and adolescent girls with hyperandrogenism.
OBJECTIVE
To determine if the Trp(64)Arg (W64R) variant of the beta(3)-adrenergic receptor (ADRB3) could be used as a genetic marker to define risk for polycystic ovary syndrom (PCOS) and/or obesity in children and adolescents.


METHODS
Association study.


METHODS
Academic research environment.


METHODS
Children referred for evaluation of premature pubic hair (n = 63), adolescent girls referred for evaluation of hirsutism and/or oligomenorrhea (n = 33), and healthy adult controls (n = 67).


METHODS
None.


METHODS
Relationship of body mass index (BMI) to presence or absence of W64R variant and frequency of W64R variant in our patient population.


RESULTS
Body mass index (kg/m(2)) was determined for 63 children (55 girls and 8 boys) and 33 adolescent girls. Presence or absence of the W64R variant was assayed by polymerase chain reaction (PCR) amplification followed by allele-specific restriction fragment digest. Twelve subjects and 11 healthy controls were found to be heterozygous for the W64R variant. One subject was found to be homozygous for the W64R variant. Allele frequency for the W64R variant was comparable between patients and controls. Among the patients, mean BMI values were not different between carriers and noncarriers.


CONCLUSIONS
Although other studies suggest that the W64R variant is associated with the development of obesity and insulin resistance, we cannot demonstrate that it has a major effect on BMI in children with premature pubarche or in adolescent girls with hyperandrogenism. Serial observations are necessary to determine if this variant predicts the development of obesity and/or PCOS in adulthood.
Witchel
S F
SF
Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA. siegels@chplink.chp.edu
Fagerli
J
J
Siegel
J
J
Smith
R
R
Mitwally
M F
MF
Lewy
V
V
Arslanian
S
S
Lee
P A
PA
D000293:Adolescent; D001835:Body Weight / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D017588:Hyperandrogenism / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000235:genetics; D011629:Puberty, Precocious / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics; D011943:Receptors, Adrenergic, beta / Q000235:genetics*; D022702:Receptors, Adrenergic, beta-3
D005819:Genetic Markers; D011943:Receptors, Adrenergic, beta; D022702:Receptors, Adrenergic, beta-3