Transforming growth factor beta receptor I polyalanine repeat polymorphism does not increase ovarian cancer risk.
OBJECTIVE
It has been suggested that the 6A allele of the type I TGFbeta receptor (TGFbetaR1) polyalanine repeat tract polymorphism may increase susceptibility to various types of cancer including ovarian cancer.


METHODS
The TGFbetaR1 polyalanine polymorphism was genotyped in 588 ovarian cancer cases and 614 controls from a population-based case-control study in North Carolina.


RESULTS
Significant racial differences in the frequency of the 6A allele were observed between Caucasian (10.7%) and African-American (2.4%) controls (P < 0.001). One or two copies of the 6A allele of the TGFbetaR1 polyalanine polymorphism was carried by 18% of all controls and 19% of cases, and there was no association with ovarian cancer risk (OR = 1.07, 95% CI 0.80-1.44). The odds ratio for 6A homozygotes was 1.81 (95% CI 0.655.06), but these comprised only 0.98% of controls and 1.70% of cases.


CONCLUSIONS
The 6A allele of the TGFbetaR1 polyalanine polymorphism does not appear to increase ovarian cancer risk. Larger studies would be needed to exclude the possibility that the small fraction of individuals who are 6A homozygotes have an increased risk of ovarian or other cancers.
Spillman
Monique A
MA
Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Duke University, DUMC Box 3079, Durham, NC 27710, USA.
Schildkraut
Joellen M
JM
Halabi
Susan
S
Moorman
Patricia
P
Calingaert
Brian
B
Bentley
Rex C
RC
Marks
Jeffrey R
JR
Murphy
Susan
S
Berchuck
Andrew
A
D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009657:North Carolina / Q000453:epidemiology; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D010455:Peptides / Q000235:genetics; D011110:Polymorphism, Genetic; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D020449:Repetitive Sequences, Amino Acid
D010455:Peptides; D018125:Receptors, Transforming Growth Factor beta; C019529:polyalanine