Wang S, Qiao F Y, Feng L
Department of Gynecology and Obstetrics, Prenatal Eugenics Diagnosis Center, Tongji Medical College, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Genet Mol Res. 2013 Jul 15;12(3):2416-22. doi: 10.4238/2013.January.4.14.
The aim of this study was to investigate the relationship between the leptin receptor (LEPR) polymorphism/serum leptin level and preeclampsia. The prevalence of a single nucleotide polymorphism in the LEPR gene exon 14 at -656 and the serum leptin concentrations in 97 preeclamptic pregnant mothers were compared to those of 110 healthy controls. The Lys656Asn genotype and Lys656Asn + Asn656Asn frequencies in the LEPR gene were significantly more prevalent in preeclampsia mothers than in controls (P < 0.05). The serum leptin levels of preeclampsia cases were significantly higher than those of controls. In addition, there were higher serum leptin levels in individuals with the GC + CC genotype both in the total cohort and in women with preeclampsia than in those with the GG genotype. Our findings suggest that the Lys656Asn polymorphism is a functional variant in the LEPR, which can affect the interaction of leptin and its receptor. Furthermore, high leptin level and the LEPR variant are risk factors for preeclampsia in Chinese women.
本研究旨在探讨瘦素受体（LEPR）基因多态性/血清瘦素水平与子痫前期之间的关系。将97例子痫前期孕妇母亲的LEPR基因外显子14第-656位单核苷酸多态性的发生率及血清瘦素浓度与110例健康对照者进行比较。LEPR基因中的Lys656Asn基因型和Lys656Asn + Asn656Asn频率在子痫前期母亲中显著高于对照组（P < 0.05）。子痫前期病例的血清瘦素水平显著高于对照组。此外，在整个队列以及子痫前期女性中，GC + CC基因型个体的血清瘦素水平高于GG基因型个体。我们的研究结果表明，Lys656Asn多态性是LEPR中的一个功能变异，可影响瘦素与其受体的相互作用。此外，高瘦素水平和LEPR变异是中国女性子痫前期的危险因素。
