Localization of a major susceptibility locus influencing preterm birth

G. Chittoor, V. S. Farook, S. Puppala, S. P. Fowler, J. Schneider, T. D. Dyer, S. A. Cole, J. L. Lynch, J. E. Curran, L. Almasy, J. W. MacCluer, A. G. Comuzzie, D. E. Hale, R. S. Ramamurthy, D. J. Dudley, E. K. Moses, R. Arya, D. M. Lehman, C. P. Jenkinson, B. S. BradshawR. A. DeFronzo, J. Blangero, R. Duggirala

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Pretermbirth (PTB) is a complex trait, but little is known regarding its major genetic determinants. The objective of this study is to localize genes that influence susceptibility toPTBinMexican Americans (MAs), a minority population in the USA, using predominantly microfilmed birth certificate-based data obtained from the San Antonio Family BirthWeight Study. Only 1302 singleton births from 288 families with information on PTB and significant covariateswere considered for genetic analysis. PTB is defined as a childbirth that occurs at <37 completed weeks of gestation, and the prevalence of PTB in this sample was 6.4%. An ~10 cM genetic map was used to conduct a genome-wide linkage analysis using the program SOLAR. The heritability of PTB was high (h2±SE: 0.75±0.20) and significant (P = 4.5 × 10-5), after adjusting for the significant effects of birthweight and birth order.We found significant evidence for linkage of PTB (LOD = 3.6; nominal P = 2.3 ×10-5; empirical P = 1.0× 1010-5) on chromosome 18q between markers D18S1364 and D18S541. Several other chromosomal regions (2q, 9p, 16q and 20q) were also potentially linked with PTB. A strong positional candidate gene in the 18q linked region is SERPINB2 or PAI-2, a member of the plasminogen activator system that is associated with various reproductive processes. In conclusion, to our knowledge, perhaps for the first time in MAs or US populations, we have localized a major susceptibility locus for PTB on chromosome 18q21.33-q23.

Original languageEnglish (US)
Article numbergat036
Pages (from-to)687-696
Number of pages10
JournalMolecular Human Reproduction
Issue number10
StatePublished - Oct 2013

All Science Journal Classification (ASJC) codes

  • General Medicine


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