Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants

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• 作者：Digna R. Velez ; Stephen Fortunato ; Poul Thorsen ; Salvatore J. Lombardi ; Scott M. Williams ; Ramkumar Menon
• 关键词：complex disease ; genetic epidemiology ; infection/inflammation ; reproductive genetics
• 刊名：American Journal of Obstetrics and Gynecology
• 出版年：2009
• 出版时间：February 2009
• 年：2009
• 卷：200
• 期：2
• 页码：209.e1-209.e27
• 全文大小：738 K

文摘

Objective

The objective of the study was to study the genetic risk factors of spontaneous preterm birth (PTB) in African Americans.

Study Design

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 × 10⁻⁴, genotype P = 2.00 × 10⁻³) gene and the fetal IL-2 receptor B (IL-2RB) (rs84460, allele P = 1.37 × 10⁻⁴, genotype P = 6.29 × 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 × 10⁻³; rs84460, OR, 2.32; 95 % CI, 1.47-3.67; P < 1.0 × 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.

Conclusion

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.