Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patients

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• 作者：Najat Mahdi (2)
  Tala M. Abu-Hijleh (1)
  Farah M. Abu-Hijleh (1)
  Mai S. Sater (1)
  Khadija Al-Ola (2)
  Wassim Y. Almawi (1) wassim@agu.edu.bh
• 关键词：Protein Z – ; Sickle cell disease – ; Vaso ; occlusive crisis
• 刊名：Annals of Hematology
• 出版年：2012
• 出版时间：August 2012
• 年：2012
• 卷：91
• 期：8
• 页码：1215-1220
• 全文大小：180.0 KB
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• 作者单位：1. Department of Medical Biochemistry, College of Medicine and Medical Sciences, Arabian Gulf University, PO Box 22979, Manama, Bahrain2. Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain
• ISSN：1432-0584

文摘

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.