ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study.

von Krogh, Anne-Sophie; Kremer Hovinga, Johanna Anna; Romundstad, Pål R; Roten, Linda T; Lämmle, Bernhard; Waage, Anders; Quist-Paulsen, Petter (2015). ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study. Thrombosis research, 136(2), pp. 282-288. Elsevier 10.1016/j.thromres.2015.06.022

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INTRODUCTION Known genetic variants with reference to preeclampsia only explain a proportion of the heritable contribution to the development of this condition. The association between preeclampsia and the risk of cardiovascular disease later in life has encouraged the study of genetic variants important in thrombosis and vascular inflammation also in relation to preeclampsia. The von Willebrand factor-cleaving protease, ADAMTS13, plays an important role in micro vascular thrombosis, and partial deficiencies of this enzyme have been observed in association with cardiovascular disease and preeclampsia. However, it remains unknown whether decreased ADAMTS13 levels represent a cause or an effect of the event in placental and cardiovascular disease. METHODS We studied the distribution of three functional genetic variants of ADAMTS13, c.1852C>G (rs28647808), c.4143_4144dupA (rs387906343), and c.3178C>T (rs142572218) in women with preeclampsia and their controls in a nested case-control study from the second Nord-Trøndelag Health Study (HUNT2). We also studied the association between ADAMTS13 activity and preeclampsia, in serum samples procured unrelated in time of the preeclamptic pregnancy. RESULTS No differences were observed in genotype, allele or haplotype frequencies of the different ADAMTS13 variants when comparing cases and controls, and no association to preeclampsia was found with lower levels of ADAMTS13 activity. CONCLUSION Our findings indicate that ADAMTS13 variants and ADAMTS13 activity do not contribute to an increased risk of preeclampsia in the general population.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)

UniBE Contributor:

Kremer Hovinga, Johanna Anna and Lämmle, Bernhard

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0049-3848

Publisher:

Elsevier

Language:

English

Submitter:

Verena Zwahlen

Date Deposited:

24 Mar 2016 13:52

Last Modified:

11 Sep 2017 20:48

Publisher DOI:

10.1016/j.thromres.2015.06.022

PubMed ID:

26139087

Uncontrolled Keywords:

ADAMTS13; Case–control; Mutations; Preeclampsia; The HUNT study

BORIS DOI:

10.7892/boris.78717

URI:

https://boris.unibe.ch/id/eprint/78717

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