Genetic variation in pentraxin (PTX) 3 gene associates with PTX3 production and fertility in women.

Linda May, Maris Kuningas, David van Bodegom, Hans J. Meij, Marijke Frolich, P. Eline Slagboom, Alberto Mantovani, R. G. Westendorp

Research output: Contribution to journalArticlepeer-review


Pentraxin 3 (PTX3) plays an important role in innate immune responses and in female fertility, as discovered with studies in mice. However, the role of PTX3 in human fertility is unknown. Here, we report on a population-based study from a rural area of Upper East Ghana (n = 4346). We studied the association between the number of children given birth by women during their lifetime and ex vivo, lipopolysaccharide (LPS)-induced PTX3 production (n = 362). In addition, we studied the association of genetic variation in the PTX3 gene with PTX3 production (n = 617) and with female fertility (n = 1999). We found that ex vivo LPS-induced PTX3 production was associated with fertility (P = 0.040). Furthermore, we identified genetic variants in the PTX3 gene that influence PTX3 production, and also fertility. The strongest associations were observed for the rs6788044 single-nucleotide polymorphism (SNP). We found that carriers of this SNP had higher PTX3 production capacity (P = 0.003) and higher fertility (P = 0.043). The results reported here provide the first evidence, based on protein production and analysis of polymorphisms, that the long pentraxin PTX3 plays a role in female fertility in humans.

Original languageEnglish
Pages (from-to)299-304
Number of pages6
JournalBiology of Reproduction
Issue number2
Publication statusPublished - Feb 2010

ASJC Scopus subject areas

  • Cell Biology


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