Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.
OBJECTIVE
The objective of the study was to study the genetic risk factors of spontaneous preterm birth (PTB) in African Americans.


METHODS
Case-control analyses were performed using maternal and fetal deoxyribonucleic acid from 279 African American birth events (82 PTB and 197 term) and 1432 single-nucleotide polymorphisms from 130 candidate genes. Single-locus association and haplotype analyses were performed.


RESULTS
The most significant associations were in the maternal interleukin (IL)-15 (rs10833, allele P = 2.91 x 10(-4), genotype P = 2.00 x 10(-3)) gene and the fetal IL-2 receptor B (IL-2RB) (rs84460, allele P = 1.37 x 10(-4), genotype P = 6.29 x 10(-4)) gene. The best models for these markers were additive (rs10833, odds ratio [OR], 0.30; 95% confidence interval [CI], 0.14-0.62; P = 1.0 x 10(-3); rs84460, OR, 2.32; 95% CI, 1.47-3.67; P < 1.0 x 10(-3)). The largest number of significant associations was found in genes related to infection and inflammation. There were overall a larger number of significant associations in infants than in mothers.


CONCLUSIONS
These results support a strong role for genes involved in infection and inflammation in the pathogenesis of PTB, particularly IL-12 and IL-12RB, and indicate that in African Americans there may be complementarity of maternal and fetal genetic risks for PTB.
Velez
Digna R
DR
Dr John T. Macdonald Foundation Department of Human Genetics and Miami Institute of Human Genomics, University of Miami, Miami, FL, USA.
Fortunato
Stephen
S
Thorsen
Poul
P
Lombardi
Salvatore J
SJ
Williams
Scott M
SM
Menon
Ramkumar
R
D000328:Adult; D001741:Black or African American; D005260:Female; D005333:Fetus; D020022:Genetic Predisposition to Disease; D006801:Humans; D007239:Infections / Q000235:genetics*; D007249:Inflammation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D047928:Premature Birth / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult