Meirhaeghe Aline, Boreham Colin A G, Murray Liam J, Richard Florence, Davey Smith George, Young Ian S, Amouyel Philippe
INSERM U744, Institut Pasteur de Lille, Université de Lille, 1 rue du Pr. Calmette, BP 245, 59019 Lille Cedex, France.
Diabetes. 2007 Feb;56(2):494-8. doi: 10.2337/db06-0915.
The links between preterm birth, low birth weight, and adult vascular/metabolic morbidity remain unclear. Genetic susceptibility of babies related to these three conditions might contribute to this long-term association. We tested whether the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma (PPARG) gene could play a role in birth weight and duration of gestation. We genotyped two independent cross-sectional studies from Northern Ireland (n = 382 and 620). In combined populations, the PPARG Ala12 allele was associated (P = 0.03) with lower birth weight, primarily caused by shorter gestational duration (P = 0.04). The frequency of Ala12 allele carriers was higher (P = 0.027) in the group of individuals born before term (35%, n = 60) than in the group of individuals born at term (22%, n = 942). The odds ratios (95% CI) of preterm birth for Ala12 allele carriers were 1.9 (1.1-3.4), P = 0.022, and 4.2 (1.9-9.7), P = 0.0006 (adjusted for sex, maternal age, and study), when considering 37 or 35 weeks of pregnancy as a threshold for preterm birth, respectively. Interestingly, the same allele was also associated with a moderate decreased risk of miscarriages in mothers. In conclusion, the PPARG Pro12Ala polymorphism might represent a genetic susceptibility factor for preterm birth and constitute a link between preterm birth and metabolic diseases later in life.
早产、低出生体重与成人血管/代谢疾病之间的联系仍不明确。与这三种情况相关的婴儿遗传易感性可能导致了这种长期关联。我们测试了过氧化物酶体增殖物激活受体γ（PPARG）基因的Pro12Ala多态性是否会在出生体重和妊娠期时长中发挥作用。我们对来自北爱尔兰的两项独立横断面研究进行了基因分型（n = 382和620）。在合并人群中，PPARG Ala12等位基因与较低出生体重相关（P = 0.03），主要是由较短的妊娠期所致（P = 0.04）。早产组（35%，n = 60）中Ala12等位基因携带者的频率高于足月出生组（22%，n = 942）（P = 0.027）。当将妊娠37周或35周作为早产阈值时，Ala12等位基因携带者早产的优势比（95% CI）分别为1.9（1.1 - 3.4），P = 0.022，以及4.2（1.9 - 9.7），P = 0.0006（根据性别、母亲年龄和研究进行了调整）。有趣的是，同一等位基因还与母亲流产风险适度降低相关。总之，PPARG Pro12Ala多态性可能是早产的一个遗传易感性因素，并构成早产与日后代谢疾病之间的一种联系。
