Beta2-adrenergic receptor gene polymorphisms and pregnancy outcome.
OBJECTIVE
The association between alleles at two loci of the polymorphic beta2-adrenergic receptor (beta2AR) gene and pregnancy outcome was determined.


METHODS
In a case-control study, buccal swabs obtained from 159 mother-infant pairs after a preterm or term birth were analyzed by gene amplification and endonuclease digestion for polymorphisms at codons 16 and 27 of the beta2AR gene.


RESULTS
Homozygosity for allele A at codon 16 (Arg-16) occurred in 26 (20.5%) of 127 mothers with a term birth and in none of the mothers who had a spontaneous preterm birth (p=0.002). Conversely, 24 of 32 (75.0%) mothers with a spontaneous preterm birth, as compared to 58 of 127 (45.7%) mothers with term births, were Arg-16/ allele G (Gly-16) heterozygotes (p=0.003). There was no relation between pregnancy outcome and infant genotype at codon 16 or maternal or infant genotypes at codon 27. The alleles at codon 16 and 27 were in linkage disequilibrium and the combinations of Arg-16-Gln-27 homozygosity (p=0.04) and Arg-16/Gly-16-Gln homozygous (p=0.01) were associated with a decreased and increased rate of spontaneous preterm birth, respectively.


CONCLUSIONS
At codon 16 of the beta2-AR gene, maternal Arg-16 homozygosity protects against, and Gly-16 predisposes to spontaneous preterm birth.
Doh
Kunihiko
K
Division of Immunology and Infectious Diseases, Weill Medical College of Cornell University, New York, New York 10021, U.S.A.
Sziller
Istvan
I
Vardhana
Santosh
S
Kovacs
Eszter
E
Papp
Zoltan
Z
Witkin
Steven S
SS
D000328:Adult; D016022:Case-Control Studies; D017931:DNA Primers; D005260:Female; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008499:Medical Records; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011256:Pregnancy Outcome; D047928:Premature Birth / Q000453:epidemiology / Q000235:genetics*; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics*; D012189:Retrospective Studies
D017931:DNA Primers; D018343:Receptors, Adrenergic, beta-2