Progesterone receptor gene polymorphisms and risk of endometriosis: results from an international collaborative effort.
OBJECTIVE
To investigate the association between self-reported endometriosis and the putative functional promoter +331C/T single nucleotide polymorphism and the PROGINS allele.


METHODS
Control subjects from ovarian cancer case-control studies participating in the international Ovarian Cancer Association Consortium. The majority of controls are drawn from population-based studies.


METHODS
An international ovarian cancer consortium including studies from Australia, Europe, and the United States.


METHODS
Five thousand eight hundred twelve white female controls, of whom 348 had endometriosis, from eight ovarian cancer case-control studies.


METHODS
None.


METHODS
Genotypes for the +331C/T single nucleotide polymorphism and PROGINS allele and a history of endometriosis.


RESULTS
The occurrence of endometriosis was reduced in women carrying one or more copies of the +331 T allele (odds ratio=0.65; 95% confidence interval: 0.43-0.98), whereas there was no association between the PROGINS allele and endometriosis (odds ratio=0.94, 95% confidence interval 0.76-1.16).


CONCLUSIONS
Additional studies of the +331C/T variant are warranted given the current finding and the equivocal results of previous studies. The +331 T allele has been shown to result in a reduced progesterone (P) receptor A to P receptor B ratio, and if the observed association with endometriosis is confirmed it would suggest that this ratio is important for this disease.
Near
Aimee M
AM
Cancer Control Program, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, DC, USA.
Wu
Anna H
AH
Templeman
Claire
C
Van Den Berg
David J
DJ
Doherty
Jennifer A
JA
Rossing
Mary Anne
MA
Goode
Ellen L
EL
Cunningham
Julie M
JM
Vierkant
Robert A
RA
Fridley
Brooke L
BL
Chenevix-Trench
Georgia
G
Webb
Penelope M
PM
Kjær
Susanne Krüger
SK
Hogdall
Estrid
E
Gayther
Simon A
SA
Ramus
Susan J
SJ
Menon
Usha
U
Gentry-Maharaj
Aleksandra
A
Schildkraut
Joellen M
JM
Moorman
Patricia G
PG
Palmieri
Rachel T
RT
Ness
Roberta B
RB
Moysich
Kirsten
K
Cramer
Daniel W
DW
Terry
Kathryn L
KL
Vitonis
Allison F
AF
Pike
Malcolm C
MC
Berchuck
Andrew
A
Pearce
Celeste Leigh
CL
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia / Q000453:epidemiology; D003299:Cooperative Behavior; D004715:Endometriosis / Q000453:epidemiology* / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D007391:International Cooperation; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D011980:Receptors, Progesterone / Q000235:genetics*; D012307:Risk Factors; D014481:United States / Q000453:epidemiology; D055815:Young Adult
D011980:Receptors, Progesterone; C101118:progesterone receptor A; C097314:progesterone receptor B