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

Mahdi, Najat; Abu-Hijleh, Tala M.; Abu-Hijleh, Farah M.; Sater, Mai S.; Al-Ola, Khadija; Almawi, Wassim Y.

doi:10.1007/s00277-012-1474-6

Cited by 5 publications

(6 citation statements)

References 38 publications

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“…(48,49). Variability in the genes encoding for receptors, enzymes, or transporter channels such as GTP cyclohydroxylase, COMT, TRPV1, and KCNS1 has been implicated in non-SCD painful conditions (50)(51)(52)(53)(54)(55); some of which have been examined in SCD pain (35,(56)(57)(58)(59)(60).…”

Section: Lessons From Non-scd Pain Conditions and Future Directionsmentioning

confidence: 99%

Thinking beyond sickling to better understand pain in sickle cell disease

Darbari

Ballas

Clauw

2014

European J of Haematology

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Painful vaso-occlusive crises (VOCs) are the hallmark of sickle cell disease (SCD); however, many patients experience frequent daily pain that does not follow the pattern of typical VOCs. This pain of variable severity, also referred as persistent pain in the SCD literature, contributes to significant morbidity and poor quality of life and often fails to respond adequately to standard SCD therapies. In this article, we briefly describe types of pain encountered in SCD with a special emphasis on persistent pain. We discuss altered pain processing as a potential contributing mechanism, which may lead to development and maintenance of persistent pain. We describe the advances in the non-SCD pain field that may help improve the understanding of SCD pain. We highlight the need for further investigation in this area because some of these patients with persistent pain may benefit from receiving adjuvant mechanism-based therapies used successfully in other non-SCD chronic pain conditions.

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Section: Lessons From Non-scd Pain Conditions and Future Directionsmentioning

confidence: 99%

Thinking beyond sickling to better understand pain in sickle cell disease

Darbari

Ballas

Clauw

2014

European J of Haematology

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“…Very few investigators ( n = 4) reported performing a power analysis, revealing majority of these studies were exploratory in nature ( n = 18). Of those, three of the four studies reported sufficient power (79%–84%) to detect associations between SNPs of interest and an SCD-related pain phenotype ( 13 – 16 ).…”

Section: Resultsmentioning

confidence: 99%

Single nucleotide polymorphisms and sickle cell disease-related pain: a systematic review

Gehling,

Powell-Roach,

Wilkie

et al. 2023

Front. Pain Res.

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BackgroundScientists have speculated genetic variants may contribute to an individual's unique pain experience. Although research exists regarding the relationship between single nucleotide polymorphisms and sickle cell disease-related pain, this literature has not been synthesized to help inform future precision health research for sickle cell disease-related pain. Our primary aim of this systematic review was to synthesize the current state of scientific literature regarding single nucleotide polymorphisms and their association with sickle cell disease-related pain.MethodsUsing the Prisma guidelines, we conducted our search between December 2021–April 2022. We searched PubMed, Web of Science, CINAHL, and Embase databases (1998–2022) and selected all peer-reviewed articles that included reports of associations between single nucleotide polymorphisms and sickle cell disease-related pain outcomes.ResultsOur search yielded 215 articles, 80 of which were duplicates, and after two reviewers (GG, JD) independently screened the 135 non-duplicate articles, we retained 22 articles that met the study criteria. The synthesis of internationally generated evidence revealed that this scientific area remains predominantly exploratory in nature, with only three studies reporting sufficient power for genetic association. Sampling varied across studies with a range of children to older adults with SCD. All of the included articles (n = 22) examined acute pain, while only nine of those studies also examined chronic pain.ConclusionCurrently, the evidence implicating genetic variation contributing to acute and chronic sickle cell disease-related pain is characterized by modestly powered candidate-gene studies using rigorous SCD-pain outcomes. Effect sizes and directions vary across studies and are valuable for informing the design of future studies. Further research is needed to replicate these associations and extend findings with hypothesis-driven research to inform precision health research.

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“…This could be attributed to the sample size of our study, or the unreported attacks of VOC missed by the patients or their caregivers. The study of Mahdi and colleagues 25 reported that the polymorphic genotypes were significantly higher in SCD patients with VOC, and this SNP could be considered as molecular risk factor for vaso-occlusion.…”

Section: Discussionmentioning

confidence: 96%

“…These frequencies go with that previously reported in Bahraini patients being 65%, 29%, and 5% for the GG, GA, and AA genotypes, respectively. 25 SCD complications may be modified by genetic and acquired risk factors for vasculopathy and several studies have reported that Proein Z G79A polymorphism is associated with thrombotic complications.…”

Section: Discussionmentioning

confidence: 99%