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Maternal KIR in combination with paternal HLA-C2 regulate human birth weight
Susan E Hiby1, Richard Apps2, Olympe Chazara1
1Department of Pathology, University of Cambridge, Cambridge CB2 1QP, United Kingdom; Centre for Trophoblast Research, University of Cambridge, Cambridge CB2 1QP, United Kingdom;
Journal of Immunology (Baltimore, Md. : 1950)
|April 30, 2014
Summary
Maternal killer cell immunoglobulin-like receptors (KIR) and fetal HLA-C genes influence human birth weight. Activating maternal KIR2DS1 with paternally inherited fetal HLA-C2 is linked to higher birth weights, balancing selection at birth weight extremes.
Area of Science:
- Reproductive immunology
- Human genetics
- Maternal-fetal interactions
Background:
- Human birth weight is regulated by stabilizing selection, with deviations from the norm impacting survival.
- Specific maternal killer cell immunoglobulin-like receptor (KIR) and fetal human leukocyte antigen C (HLA-C) gene combinations are linked to low birth weight (≤ 5th centile), particularly inhibitory maternal KIR AA with paternally derived fetal HLA-C2.
Purpose of the Study:
- To investigate the association between maternal KIR and fetal HLA-C genotypes and high birth weight (>5th centile).
- To determine the role of paternal versus maternal inheritance of HLA-C ligands in these associations.
Main Methods:
- Genotyping of maternal KIR and fetal/maternal HLA-C in 1316 mother/baby pairs.
- Statistical analysis (linear and logistic regression) to assess the association between maternal KIR2DS1 and birth weight for pregnancies >5th centile.
- Examination of the effect of KIR2DS1 based on the inheritance pattern (paternal vs. maternal) of its ligand, HLA-C2.
Main Results:
- The presence of a maternal-activating KIR2DS1 gene was significantly associated with increased birth weight in pregnancies above the 5th centile (p = 0.005).
- This association was most pronounced when the fetal HLA-C2 ligand was paternally inherited (p = 0.005, OR = 2.65).
- Maternal KIR genotypes show opposing effects at birth weight extremes: inhibitory for small babies and activating for large babies, with paternal HLA-C2 inheritance being crucial in both scenarios.
Conclusions:
- Maternal KIR and fetal HLA-C gene systems play a role in successful reproduction by modulating birth weight.
- Activating maternal KIR, specifically KIR2DS1, is associated with higher birth weights, particularly when the HLA-C2 ligand is paternally inherited.
- Paternal HLA-C inheritance has a significant role in the interplay between KIR and HLA-C in maintaining optimal birth weight.
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