374
Current understanding of the cause of preeclampsia
and eclampsia of pregnancy is limited, although specific
aspects of the pathogenesis are understood
1
and precon-
ceptional and pregnancy-associated risk factors have
been identified.
2
Genetic influences have long been re-
garded as etiologically important in preeclampsia and
eclampsia,
3
and although several candidates have been
identified for preeclampsia
4
and pregnancy-induced hy-
pertension,
5
predisposing genes have yet to be indis-
putably found. A family history of preeclampsia or
eclampsia is associated with a 4-fold increase in the rela-
tive risk of severe preeclampsia in primigravid women.
6
After a prolonged period of questioning the (maternal)
genetic basis of preeclampsia and eclampsia because no
concordant monozygotic twin pairs had been described,
3 monozygotic female twin pairs concordant for pre-
eclampsia have now been reported.
7
No twin pair con-
cordance and discordance rates were available from that
study, however, so no conclusions were possible concern-
ing maternal genetic influences. A recent British study
reported negligible heritability of confirmed proteinuric
preeclampsia, on the basis of data from a cohort of adult
female twin pairs.
8
Whether the genetic origin of pre-
eclampsia and eclampsia is fetal rather than stemming
from the maternal genotype alone or is the result of an
interaction between the two is still unresolved.
9
Implan-
tation failure is a key feature of preeclampsia and
eclampsia.
10
Pairs of monozygotic twins share the same genotype
and, if raised in the same family, share the same family
background. Dizygotic twins share, on average, 50% of
their genes. Differences between monozygotic twins in a
pair must be caused by either environmental influences
or measurement error, whereas differences between di-
zygotic twins may be caused by effects of differing genetic
or individual-specific environmental effects. We describe
an exploratory epidemiologic study that sought to iden-
tify concordance and discordance rates for a history of
preeclampsia or eclampsia in pregnancies of adult twin
pairs. To investigate a fetal versus a maternal cause of pre-
eclampsia and eclampsia, we explored concordance be-
tween parous female partners of monozygotic and di-
zygotic male co-twins and between female partners and
female co-twins in dizygotic opposite-sex pairs. If paternal
From the Queensland Institute of Medical Research and the Joint Genet-
ics Program, The University of Queensland, Brisbane
a
; the School of Bi-
ological Sciences, Macquarie University, Sydney
b
; the Department of
Perinatal Medicine, Royal Women’s Hospital, Melbourne
c
; and the De-
partment of Obstetrics and Gynaecology, University of Melbourne and
Royal Women’s Hospital.
d
Supported by the Australian National Health and Medical Research
Council (grant No. 960744).
Received for publication December 9, 1999; revised June 6, 2000;
accepted June 12, 2000.
Reprint requests: Susan A. Treloar, PhD, Queensland Institute of Med-
ical Research, PO Royal Brisbane Hospital, Queensland 4029, Aus-
tralia.
Copyright © 2001 by Mosby, Inc.
0002-9378/2001 $35.00 + 0 6/1/109400
doi:10.1067/mob.2001.109400
An Australian twin study of the genetic basis of preeclampsia
and eclampsia
Susan A. Treloar, PhD,
a
Desmond W. Cooper, PhD,
b
Shaun P. Brennecke, MB, BS, DPhil,
c, d
Madonna M. Grehan, RN, RM,
c
and Nicholas G. Martin, PhD
a
Brisbane, Queensland, Sydney, New South Wales, and Melbourne, Victoria, Australia
OBJECTIVE: We investigated maternal versus fetal genetic causes of preeclampsia and eclampsia by as-
sessing concordance between monozygotic and dizygotic female co-twins, between female partners of male
monozygotic and dizygotic twin pairs, and between female twins and partners of their male co-twins in di-
zygotic opposite-sex pairs.
STUDY DESIGN: Two large birth cohorts of volunteer Australian female twin pairs (N = 1504 pairs and N =
858 pairs) were screened and interviewed, and available medical and hospital records were obtained and re-
viewed where indicated, with diagnoses assigned according to predetermined criteria.
RESULTS: With strict diagnostic criteria used for preeclampsia and eclampsia, no concordant female twin
pairs were found. Collapsing diagnoses of definite, probable, or possible preeclampsia or eclampsia resulted
in very low genetic recurrence risk estimates.
CONCLUSION: Results from these two cohorts of female twin pairs do not support clear, solely maternal ge-
netic influences on preeclampsia and eclampsia. Numbers of parous female partners of male twins were too
low for conclusions to be drawn regarding paternal transmission. (Am J Obstet Gynecol 2001;184:374-81.)
Key words: Genetic, preeclampsia, twin study