THE XmnI AND BCL11A SINGLE NUCLEOTIDE POLYMORPHISMS MAY HELP PREDICT HYDROXYUREA RESPONSE IN IRANIAN β-THALASSEMIA PATIENTS

被引：33

作者：

Banan, Mehdi ^{[1
]}

Bayat, Hadi ^{[1
]}

Azarkeivan, Azita ^{[2
,3
]}

Mohammadparast, Saeid ^{[1
]}

Kamali, Koorosh ^{[4
]}

Farashi, Samaneh ^{[1
]}

Bayat, Nooshin ^{[5
]}

Khani, Masumeh Hadavand ^{[3
]}

Neishabury, Maryam ^{[1
]}

Najmabadi, Hossein ^{[1
,5
]}

机构：

[1] Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran

[2] Blood Transfus Org, Tehran, Iran

[3] Adult Thalassemia Clin, Tehran, Iran

[4] Avicenna Res Inst, Reprod Biotechnol Res Ctr, Tehran, Iran

[5] Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran

来源：

HEMOGLOBIN | 2012年 / 36卷 / 04期

关键词：

beta-Thalassemia (beta-thal); Hydroxyurea (HU); BCL11A Single nucleotide polymorphism (SNP); XmnI Polymorphism; FETAL-HEMOGLOBIN PRODUCTION; INTERMEDIA; DNA; MUTATIONS; THERAPY;

D O I：

10.3109/03630269.2012.691147

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Hydroxyurea (HU), a drug which can reactivate fetal hemoglobin (Hb F) production, is frequently prescribed to beta-thalassemia (beta-thal) patients. However, transfusion requirements of only a subset of patients are reduced upon HU treatment. Because of its potential side-effects, targeted prescription of HU is imperative. To identify genetic markers that correlate with drug response, we have carried out a retrospective association study of single nucleotide polymorphisms (SNPs) in three Hb F quantitative trait loci (QTLs): the XmnI polymorphism, BCL11A, and the HBS1L-MYB intergenic region, with the response to HU in a cohort of 81 transfusion-dependent Iranian beta-thal patients. An increase in blood transfusion intervals post-therapy was used to measure drug response. Our results suggest that presence of the XmnI T/T genotype or the BCL11A rs766432 C allele correlates strongly with response to HU (p < 0.001). Accordingly, these markers may be used to accurately predict the HU response of Iranian beta-thal patients.

引用

页码：371 / 380

页数：10

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