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Association of the protein Z ATG haplotype with symptomatic nonvascular stroke or thromboembolism in white children: a family-based cohort study.
Blood. 2009 Mar 05; 113(10):2336-41.Blood

Abstract

To clarify the role of protein Z (PZ) in children with stroke/thromboembolism (TE), the present haplotype (HT)-based family study was performed. We genotyped 365 pediatric stroke/TE families (stroke n = 216; TE n = 149) for 4 single nucleotide polymorphisms (SNPs; rs3024718, rs3024731, rs3024772, and rs3024778) to assess the association between genetic variation within a conserved block of linkage disequilibrium harboring the PZ gene and pediatric TE. Association was assessed with use of the transmission disequilibrium test (TDT), corrected for multiple testing (permutation testing: HAPLOVIEW). In addition, PZ antigen was determined and correlated with carriership of PZ haplotypes and the FV G1691A mutation. Rs3024718, rs3024731, and rs3024772 are in tight linkage disequilibrium (LD) and define 4 haplotypes, capturing 97% of the genetic variation for this LD block. HT1 (ATG) was significantly overtransmitted from parents to affected offspring (HT frequency 73.5%, T:U 122:80, chi(2) = 8.791, P = .003). The ATG risk haplotype was significantly correlated with greater PZ antigen levels. Multivariate analysis adjusted for age, sex, established thrombophilias, smoking, fibrinogen, and PZ levels revealed a significant association of the ATG haplotype and TE in children (odds ratio [OR] 1.4; 95% confidence interval [95% CI] 1.08-1.93). Our results suggest that the ATG haplotype of the PZ gene is a genetic marker for symptomatic TE in white German children.

Authors+Show Affiliations

Pediatric Hematology/Oncology, University Clinics Münster, Münster, Germany. leagottl@unimuenster.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19050305

Citation

Nowak-Göttl, Ulrike, et al. "Association of the Protein Z ATG Haplotype With Symptomatic Nonvascular Stroke or Thromboembolism in White Children: a Family-based Cohort Study." Blood, vol. 113, no. 10, 2009, pp. 2336-41.
Nowak-Göttl U, Fröhlich B, Thedieck S, et al. Association of the protein Z ATG haplotype with symptomatic nonvascular stroke or thromboembolism in white children: a family-based cohort study. Blood. 2009;113(10):2336-41.
Nowak-Göttl, U., Fröhlich, B., Thedieck, S., Huge, A., & Stoll, M. (2009). Association of the protein Z ATG haplotype with symptomatic nonvascular stroke or thromboembolism in white children: a family-based cohort study. Blood, 113(10), 2336-41. https://doi.org/10.1182/blood-2008-10-181461
Nowak-Göttl U, et al. Association of the Protein Z ATG Haplotype With Symptomatic Nonvascular Stroke or Thromboembolism in White Children: a Family-based Cohort Study. Blood. 2009 Mar 5;113(10):2336-41. PubMed PMID: 19050305.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of the protein Z ATG haplotype with symptomatic nonvascular stroke or thromboembolism in white children: a family-based cohort study. AU - Nowak-Göttl,Ulrike, AU - Fröhlich,Birgit, AU - Thedieck,Sabine, AU - Huge,Andreas, AU - Stoll,Monika, Y1 - 2008/12/02/ PY - 2008/12/4/pubmed PY - 2009/4/30/medline PY - 2008/12/4/entrez SP - 2336 EP - 41 JF - Blood JO - Blood VL - 113 IS - 10 N2 - To clarify the role of protein Z (PZ) in children with stroke/thromboembolism (TE), the present haplotype (HT)-based family study was performed. We genotyped 365 pediatric stroke/TE families (stroke n = 216; TE n = 149) for 4 single nucleotide polymorphisms (SNPs; rs3024718, rs3024731, rs3024772, and rs3024778) to assess the association between genetic variation within a conserved block of linkage disequilibrium harboring the PZ gene and pediatric TE. Association was assessed with use of the transmission disequilibrium test (TDT), corrected for multiple testing (permutation testing: HAPLOVIEW). In addition, PZ antigen was determined and correlated with carriership of PZ haplotypes and the FV G1691A mutation. Rs3024718, rs3024731, and rs3024772 are in tight linkage disequilibrium (LD) and define 4 haplotypes, capturing 97% of the genetic variation for this LD block. HT1 (ATG) was significantly overtransmitted from parents to affected offspring (HT frequency 73.5%, T:U 122:80, chi(2) = 8.791, P = .003). The ATG risk haplotype was significantly correlated with greater PZ antigen levels. Multivariate analysis adjusted for age, sex, established thrombophilias, smoking, fibrinogen, and PZ levels revealed a significant association of the ATG haplotype and TE in children (odds ratio [OR] 1.4; 95% confidence interval [95% CI] 1.08-1.93). Our results suggest that the ATG haplotype of the PZ gene is a genetic marker for symptomatic TE in white German children. SN - 1528-0020 UR - https://www.unboundmedicine.com/medline/citation/19050305/Association_of_the_protein_Z_ATG_haplotype_with_symptomatic_nonvascular_stroke_or_thromboembolism_in_white_children:_a_family_based_cohort_study_ L2 - https://ashpublications.org/blood/article-lookup/doi/10.1182/blood-2008-10-181461 DB - PRIME DP - Unbound Medicine ER -