Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth
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- 作者：Jude J. McElroy (1) (2)
Courtney E. Gutman (3)
Christian M. Shaffer (1) (4)
Tamara D. Busch (5)
Hilkka Puttonen (6)
Kari Teramo (6)
Jeffrey C. Murray (5)
Mikko Hallman (7)
Louis J. Muglia (8) (9) - 刊名：Human Genetics
- 出版年：2013
- 出版时间：August 2013
- 年：2013
- 卷：132
- 期：8
- 页码：935-942
- 全文大小：301KB
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Courtney E. Gutman (3)
Christian M. Shaffer (1) (4)
Tamara D. Busch (5)
Hilkka Puttonen (6)
Kari Teramo (6)
Jeffrey C. Murray (5)
Mikko Hallman (7)
Louis J. Muglia (8) (9)
1. Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA
2. Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN, USA
3. Division of Neonatology, Vanderbilt University School of Medicine and Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, TN, USA
4. Genome Technology Core, Vanderbilt University, Nashville, TN, USA
5. Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa, IA, USA
6. Department of Obstetrics and Gynecology, University Central Hospital, Helsinki, Finland
7. Department of Pediatrics, Institute of Clinical Medicine, University of Oulu, Oulu, Finland
8. Center for Prevention of Preterm Birth, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave. MLC 7009, Cincinnati, OH, 45229, USA
9. Perinatal Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
文摘
Preterm birth (PTB) is a major global public health concern. However, little is known about the pathophysiology of spontaneous idiopathic PTB. We tested the hypothesis that rare variants in families would target specific genes and pathways that contribute to PTB risk in the general population. Whole-exome sequencing was performed on 10 PTB mothers from densely affected families including two mother–daughter pairs. We identified novel variants shared between the two mother–daughter pairs when compared to a 1000 Genomes Project background exome file and investigated these genes for pathway aggregation using the Kyoto Encyclopedia of Genes and Genomes (KEGG). Genes in enriched pathways were then surveyed in the other six PTB exomes and tested for association in a larger number of nuclear families. The KEGG complement and coagulation cascade was one of the most enriched pathways in our two mother–daughter pairs. When the six genes found in this pathway (CFH, CR1, F13B, F5, CR2, and C4BPA) were examined for novel missense variants, half of all the exomes harbored at least one. Association analysis of variants in these six gene regions in nuclear families from Finland (237 cases and 328 controls) found statistically significant associations after multiple test corrections in three CR1 SNPs; the strongest in an exonic missense SNP, rs6691117, p value?=?6.91e?, OR?=?1.71. Our results demonstrate the importance of the complement and coagulation cascades in the pathophysiology of PTB, and suggest potential screening and intervention approaches to prevent prematurity that target this pathway.