Author:
Várkonyi Tibor,Lázár Levente,Molvarec Attila,Than Nándor Gábor,Rigó János,Nagy Bálint
Abstract
Abstract
Background
Several studies have shown overexpression of leptin in microarray experiments in pre-eclampsia (PE) and in hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. We decided to study four leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients by using quantitative real-time PCR and melting curve analysis.
Methods
DNA was isolated from blood samples from 83 normotensive pregnant women and 75 HELLP syndrome patients. Four SNPs, LEPR c.326A>G (K109), LEPR c.668A>G (Q223R), LEPR c.1968G>C (K656N) and LEPR c.3024A>G (S1008) were determined by quantitative real-time PCR and melting curve analysis. Investigators were blinded to clinical outcomes.
Results
LEPR c.326A>G, LEPR c.668A>G, LEPR c.1968G>C and LEPR c.3024A>G allele, genotype and haplotype polymorphisms were not different in HELLP syndrome patients and normotensive healthy pregnants. There were strong linkage disequilibrium (LD) between loci c.326A>G and c.6687A>G (D' = 0.974), and c.668A>G and c.1968G>C (D' = 0.934), and c.326A>G and c.1968G>C (D' = 0.885), and c.1968G>C and c.3024A>G (D' = 1.0). However, linkages of c.3024A>G with c.668A>G (D' = 0.111) and c.326A>G (D' = 0.398) were weak. The Hardy-Weinberg equilibrium was observed for all polymorphisms. However the LEPR c.326A>G AG genotype was twice more frequent and the (AG AG GG AG) haplotype was three times more frequent in HELLP syndrome patients. The introduced quantitative real-time PCR combined with melting curve analysis is a fast and reliable method for the determination of LEPR SNPs.
Conclusion
Although certain LEPR haplotypes are more frequent in HELLP syndrome, we conclude that there is no compelling evidence that the four studied LEPR SNP polymorphisms associated with the development of HELLP syndrome.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference33 articles.
1. Tartaglia LA, Dembski M, Weng X, Deng N, Culpepper J, Devos R: Identification and expression cloning of a leptin receptor, OB-R. Cell. 1995, 83: 1263-1271. 10.1016/0092-8674(95)90151-5.
2. Houseknecht KL, Mantzoros CS, Kuliawat R, Hadro E, Flier JS, Kahn BB: Evidence for leptin binding to proteins in serum of rodents and humans: modulation with obesity. Diabetes. 1996, 45: 1638-1643. 10.2337/diabetes.45.11.1638.
3. Lewandowski K, Horn R, O'Callaghan CJ, Dunlop D, Medley GF, O'Hare P, Brabant G: Free leptin, bound leptin, and soluble leptin receptor in normal and diabetic pregnancies. J Clin Endocrinol Metab. 1999, 47: 847-850.
4. Tsiotra PC, Pappa V, Raptis SA, Tsigos C: Expression of the long and short leptin receptor isoforms in peripheral blood mononuclear cells: implications for leptin's actions. Metabolism. 2000, 49: 1537-1541. 10.1053/meta.2000.18519.
5. Snoussi K, Strosberg AD, Bouaouina N, Ben Ahmed S, Helal AN, Chouchane L: Leptin and leptin receptor polymorphisms are associated with increased risk and poor prognosis of breast carcinoma. BMC Cancer. 2006, 6: 38-10.1186/1471-2407-6-38.
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