OBJECTIVE: To study single nucleotide polymorphisms (SNPs) involved in angiogenesis ( @entity7 , @entity7309 , @entity6758 , @entity319 , @entity7738 ) and plasma levels of the corresponding proteins ( @entity7 , @entity7309 , sVEGFR1, sVEGFR2) in @entity1 with and without @entity46 . DESIGN: Allele frequencies of @entity7 ( @entity7 ) pathway SNPs and plasma levels of the corresponding proteins  were investigated in @entity1 with @entity46 and in controls. SETTING: University hospital. @entity1 (S): Samples of DNA from 1,931 Caucasian @entity1 were included (1,109 @entity1 with @entity46 and 822 controls). An additional study group included 973 DNA samples from volunteers, self-reported to be healthy without laparoscopic evaluation. INTERVENTION(S): @entity1 who underwent a laparoscopy for subfertility and/or @entity158 and healthy volunteers without laparoscopic evaluation. MAIN OUTCOME MEASURE(S): Functional SNPs of the @entity7 , @entity6758 , @entity319 , @entity7738 genes and Hap Map tagging SNPs of the  @entity7309 gene were genotyped by using iPLEX technology on a Sequenom MassArray and TaqMan SNP Genotyping Assay.  The @entity7 levels were determined in @entity1098 plasma samples by using Bio-Plex Protein Array System. @entity7309 , sVEGFR1, and sVEGFR2 levels were measured in @entity1098 plasma samples by using ELISA Quantikine kits. RESULT(S): A significant association was found between the @entity70137 polymorphism in the @entity7309 gene and @entity7309 plasma levels. In  all study subjects, @entity1 with the AA variant of the @entity70137 @entity7309 gene had significantly lower @entity7309 plasma levels (median  [interquartile range] 9.36 [8.19-10.43] pg/mL) than those with the AG variant (12.1 [11.81-20.84] pg/mL; P(a)=.0085, P(b)=.04), both before and after multiple testing. Plasma levels of @entity7 were elevated in @entity46 @entity1 (especially in minimal-mild @entity46 during the menstrual cycle phase) compared with laparoscopic controls but had a moderate diagnostic  performance (area under the curve, 0.73) in this discovery dataset. At a cut-off plasma level of @entity7 >3.88 pg/mL, minimal-mild stages of @entity46 were diagnosed with a sensitivity of 74% and a specificity of 80% during the menstrual phase of cycle. The associations between the presence of @entity46 and SNPs in @entity7309 ( @entity70138 ), @entity7738 ( @entity70139 ), and @entity6758 ( @entity35887 ) genes lost statistical significance after multiple testing. CONCLUSION(S): Genetic variants in the @entity7309 @entity70137 gene may influence plasma levels of the corresponding protein. Plasma levels of @entity7 were elevated in @entity46 @entity1 compared with controls. The associations between the presence of @entity46 and SNPs in @entity7309 ( @entity70138 ), @entity7738 ( @entity70139 ), and @entity6758 ( @entity35887 ) genes lost statistical significance after multiple testing.

@entity7 pathway in XXXX : genetic variants and plasma biomarkers.

@entity1 :: ('9606', 'Species') :: ['women', 'patients', 'Women', 'PATIENT'] @entity7738 :: ('3091', 'Gene') :: ['HIF-1a'] @entity7309 :: ('5228', 'Gene') :: ['PLGF'] @entity70138 :: ('rs2268614', 'SNP') :: ['rs2268614'] @entity7 :: ('7422', 'Gene') :: ['vascular endothelial growth factor', 'VEGF'] @entity35887 :: ('rs9582036', 'SNP') :: ['rs9582036'] @entity70139 :: ('rs11549465', 'SNP') :: ['rs11549465'] @entity70137 :: ('rs2268613', 'SNP') :: ['rs2268613'] @entity319 :: ('3791', 'Gene') :: ['VEGFR2'] @entity46 :: ('MESH:D004715', 'Disease') :: ['endometriosis'] @entity158 :: ('MESH:D010146', 'Disease') :: ['pain'] @entity6758 :: ('2321', 'Gene') :: ['VEGFR1'] @entity1098 :: ('MESH:D004492', 'Chemical') :: ['ethylenediaminetetraacetic acid']
@entity46 :: (MESH:D004715,Disease) :: ['endometriosis']
