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Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

ABSTRACT: Post-heparin lipoprotein lipase and hepatic lipase activities are used to identify primary disorders of triglyceride and HDL-cholesterol metabolism. Their ability to identify common variants in the lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes is unclear. To investigate the ability of lipase testing to detect common lipase gene variants, we included 183 patients who had undergone post-heparin lipase testing and genotyped the LPL D9N, N291S, PvuII, HindIII, and S447X and the LIPC-514CT, V73M, V133V, and N193S polymorphisms. Allele frequencies were compared with 163 controls. Polymorphisms with different allele frequencies in patients and controls or influencing lipids, were analyzed further. The diagnostic value of post-heparin lipase testing was assessed using logistic regression and receiver operating characteristic curves. We found that lipase activities did not predict the LPL D9N and N291S polymorphisms, but predicted the LPL S447X and LIPC-514CT polymorphisms. Adjusted for covariates, the area under the receiver operating characteristic curves was 0.643, 0.478, 0.686, and 0.657 for LPL D9N, N291S S447X and LIPC-514CT, respectively. On the basis of these findings, we conclude that high-LPL and low-HL activities associate with the LPL S447X and LIPC-514CT polymorphisms, but low-LPL activity was not related to LPL polymorphisms. Overall, the discriminative ability of post-heparin lipase tests in identifying carriers of common variants in the LPL and LIPC genes was limited. This indicates that conclusions on the genetic causes of lipase activities outside of the normal range should be drawn with caution.

SUBMITTER: van Hoek M

PROVIDER: S-EPMC2986675 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature

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Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

van Hoek Mandy M Dallinga-Thie Geesje M GM Steyerberg Ewout W EW Sijbrands Eric J G EJ

European journal of human genetics : EJHG 20090415 11

Post-heparin lipoprotein lipase and hepatic lipase activities are used to identify primary disorders of triglyceride and HDL-cholesterol metabolism. Their ability to identify common variants in the lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes is unclear. To investigate the ability of lipase testing to detect common lipase gene variants, we included 183 patients who had undergone post-heparin lipase testing and genotyped the LPL D9N, N291S, PvuII, HindIII, and S447X and the LIPC-514CT ...[more]

PMID: 19367320

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Project description:ImportanceLow-value care is associated with harm among patients and with wasteful health care spending but has not been well characterized in the Veterans Health Administration.ObjectivesTo characterize the frequency of and variation in low-value diagnostic testing for 4 common conditions at Veterans Affairs medical centers (VAMCs) and to examine the correlation between receipt of low-value testing for each condition.Design, setting, and participantsThis retrospective cohort study used Veterans Health Administration data from 127 VAMCs from fiscal years 2014 to 2015. Data were analyzed from April 2018 to March 2020.ExposuresContinuous enrollment in Veterans Health Administration during fiscal year 2015.Main outcomes and measuresReceipt of low-value testing for low back pain, headache, syncope, and sinusitis. For each condition, sensitive and specific criteria were used to evaluate the overall frequency and range of low-value testing, adjusting for sociodemographic and VAMC characteristics. VAMC-level variation was calculated using median adjusted odds ratios. The Pearson correlation coefficient was used to evaluate the degree of correlation between low-value testing for each condition at the VAMC level.ResultsAmong 1 022 987 veterans, the mean (SD) age was 60 (16) years, 1 008 336 (92.4%) were male, and 761 485 (69.8%) were non-Hispanic White. A total of 343 024 veterans (31.4%) were diagnosed with low back pain, 79 176 (7.3%) with headache, 23 776 (2.2%) with syncope, and 52 889 (4.8%) with sinusitis. With the sensitive criteria, overall and VAMC-level low-value testing frequency varied substantially across conditions: 4.6% (range, 2.7%-10.1%) for sinusitis, 12.8% (range, 8.6%-22.6%) for headache, 18.2% (range, 10.9%-24.6%) for low back pain, and 20.1% (range, 16.3%-27.7%) for syncope. With the specific criteria, the overall frequency of low-value testing across VAMCs was 2.4% (range, 1.3%-5.1%) for sinusitis, 8.6% (range, 6.2%-14.6%) for headache, 5.6% (range, 3.6%-7.7%) for low back pain, and 13.3% (range, 11.3%-16.8%) for syncope. The median adjusted odds ratio ranged from 1.21 for low back pain to 1.40 for sinusitis. At the VAMC level, low-value testing was most strongly correlated for syncope and headache (ρ = 0.56; P < .001) and low back pain and headache (ρ = 0.48; P < .001).Conclusions and relevanceIn this cohort study, low-value diagnostic testing was common, varied substantially across VAMCs, and was correlated between veterans' receipt of different low-value tests at the VAMC level. The findings suggest a need to address low-value diagnostic testing, even in integrated health systems, with robust utilization management practices.

Dataset Information

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

Publications

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

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