Genetic Variation in Pentraxin (PTX) 3 Gene Associates with PTX3 Production and Fertility in Women
Genetic Variation in Pentraxin (PTX) 3 Gene Associates with PTX3 Production and Fertility in Women
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DOI：
10.1095/biolreprod.109.079111
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发表时间：
2010-02-01
影响因子：
3.6
通讯作者：
Westendorp, Rudi G. J.
中科院分区：
文献类型：
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作者：
May, Linda;Kuningas, Maris;Westendorp, Rudi G. J.
在小鼠身上的研究发现，五肽3(PTX3)在先天免疫反应和雌性生育中发挥着重要作用。然而，PTX3在人类生育中的作用尚不清楚。在这里，我们报告了一项基于人口的研究，该研究来自上东加纳的一个农村地区(n=4346)。我们研究了女性一生中生育的孩子数量与体外培养、脂多糖(LPS)诱导的PTX3产生之间的关系(n=362)。此外，我们还研究了PTX3基因遗传变异与PTX3产量的关系(n=617)和与雌性生育能力的关系(n=1999)。我们发现，体外脂多糖诱导的PTX3的产生与生育力有关(P=0.040)。此外，我们还发现了影响PTX3产量和生育能力的PTX3基因的遗传变异。观察到rs6788044单核苷酸多态(SNP)的相关性最强。我们发现携带该SNP的人具有更高的PTX3生产能力(P=0.003)和更高的生育力(P=0.043)。这里报道的结果首次提供了基于蛋白质生产和多态分析的证据，证明了长的五角蛋白PTX3在人类女性生育中发挥了作用。
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.