Document Detail


Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis.
MedLine Citation:
PMID:  20149225     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Tibor Várkonyi; Levente Lázár; Attila Molvarec; Nándor Gábor Than; János Rigó; Bálint Nagy
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-02-11
Journal Detail:
Title:  BMC medical genetics     Volume:  11     ISSN:  1471-2350     ISO Abbreviation:  BMC Med. Genet.     Publication Date:  2010  
Date Detail:
Created Date:  2010-03-08     Completed Date:  2010-03-25     Revised Date:  2010-09-28    
Medline Journal Info:
Nlm Unique ID:  100968552     Medline TA:  BMC Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  25     Citation Subset:  IM    
Affiliation:
1st Department of Obstetrics and Gynecology, Semmelweis University, 1088 Budapest, Hungary.
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MeSH Terms
Descriptor/Qualifier:
Adult
Case-Control Studies
Female
Gene Frequency
HELLP Syndrome / blood,  genetics*
Haplotypes
Humans
Nucleic Acid Denaturation
Polymerase Chain Reaction
Polymorphism, Single Nucleotide*
Pregnancy
Receptors, Leptin / blood,  genetics*
Time Factors
Transition Temperature*
Chemical
Reg. No./Substance:
0/Receptors, Leptin
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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