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Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients.
Ann Hematol. 2012 Aug; 91(8):1215-20.AH

Abstract

We investigated the association of protein Z (PZ) promoter (rs3024718, rs3024719, and rs3024731) and intron (rs3024735; G79A) SNPs with sickle cell disease (SCD) vaso-occlusive crisis (VOC). Study subjects included 239 SCD patients with VOC and 138 pain-free SCD control patients. PZ genotyping was done by allelic discrimination (real-time PCR) assays. The minor allele frequency of rs3024718 (P=0.03), rs3024719 (P=0.02), rs3024731 (P<0.001), and rs3024735 (P<0.001) were higher in VOC patients than control SCD patients. Significant differences in the distribution of rs3024731 (P=0.028) and rs3024735 (P=0.045) genotypes were seen between VOC and steady-state SCD patients. This association remained significant after adjusting for gender, HbS, and HbF. Four-locus (rs3024718/rs3024719/rs3024731/rs3024735) PZ haplotypes analysis demonstrated increased frequency of GAAA (P=0.024), AGAA (P=0.011), and GGTG (P=0.002), and reduced frequency of AGTG haplotype (P=0.001) in VOC than in steady-state control patients, thereby conferring disease susceptibility and protective nature to these haplotypes, respectively. Of these, only AGTG (P(c)=0.001) and GGTG (P(c)=0.018) remained significant after applying the Bonferroni correction. In conclusion, specific PZ variants and haplotypes are significantly associated with SCD VOC.

Authors+Show Affiliations

Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22576309

Citation

Mahdi, Najat, et al. "Protein Z Polymorphisms Associated With Vaso-occlusive Crisis in Young Sickle Cell Disease Patients." Annals of Hematology, vol. 91, no. 8, 2012, pp. 1215-20.
Mahdi N, Abu-Hijleh TM, Abu-Hijleh FM, et al. Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients. Ann Hematol. 2012;91(8):1215-20.
Mahdi, N., Abu-Hijleh, T. M., Abu-Hijleh, F. M., Sater, M. S., Al-Ola, K., & Almawi, W. Y. (2012). Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients. Annals of Hematology, 91(8), 1215-20. https://doi.org/10.1007/s00277-012-1474-6
Mahdi N, et al. Protein Z Polymorphisms Associated With Vaso-occlusive Crisis in Young Sickle Cell Disease Patients. Ann Hematol. 2012;91(8):1215-20. PubMed PMID: 22576309.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients. AU - Mahdi,Najat, AU - Abu-Hijleh,Tala M, AU - Abu-Hijleh,Farah M, AU - Sater,Mai S, AU - Al-Ola,Khadija, AU - Almawi,Wassim Y, Y1 - 2012/05/11/ PY - 2011/12/01/received PY - 2012/04/10/accepted PY - 2012/5/12/entrez PY - 2012/5/12/pubmed PY - 2012/9/18/medline SP - 1215 EP - 20 JF - Annals of hematology JO - Ann. Hematol. VL - 91 IS - 8 N2 - We investigated the association of protein Z (PZ) promoter (rs3024718, rs3024719, and rs3024731) and intron (rs3024735; G79A) SNPs with sickle cell disease (SCD) vaso-occlusive crisis (VOC). Study subjects included 239 SCD patients with VOC and 138 pain-free SCD control patients. PZ genotyping was done by allelic discrimination (real-time PCR) assays. The minor allele frequency of rs3024718 (P=0.03), rs3024719 (P=0.02), rs3024731 (P<0.001), and rs3024735 (P<0.001) were higher in VOC patients than control SCD patients. Significant differences in the distribution of rs3024731 (P=0.028) and rs3024735 (P=0.045) genotypes were seen between VOC and steady-state SCD patients. This association remained significant after adjusting for gender, HbS, and HbF. Four-locus (rs3024718/rs3024719/rs3024731/rs3024735) PZ haplotypes analysis demonstrated increased frequency of GAAA (P=0.024), AGAA (P=0.011), and GGTG (P=0.002), and reduced frequency of AGTG haplotype (P=0.001) in VOC than in steady-state control patients, thereby conferring disease susceptibility and protective nature to these haplotypes, respectively. Of these, only AGTG (P(c)=0.001) and GGTG (P(c)=0.018) remained significant after applying the Bonferroni correction. In conclusion, specific PZ variants and haplotypes are significantly associated with SCD VOC. SN - 1432-0584 UR - https://www.unboundmedicine.com/medline/citation/22576309/Protein_Z_polymorphisms_associated_with_vaso_occlusive_crisis_in_young_sickle_cell_disease_patients_ L2 - https://dx.doi.org/10.1007/s00277-012-1474-6 DB - PRIME DP - Unbound Medicine ER -