RGD Reference Report - Cytochrome P450 CYP2C19 genotypes in Nigerian sickle-cell disease patients and normal controls. - Rat Genome Database

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Cytochrome P450 CYP2C19 genotypes in Nigerian sickle-cell disease patients and normal controls.

Authors: Babalola, CP  Adejumo, O  Ung, D  Xu, Z  Odetunde, A  Kotila, T  Falusi, AG  Nagar, S 
Citation: Babalola CP, etal., J Clin Pharm Ther. 2010 Aug;35(4):471-7. doi: 10.1111/j.1365-2710.2009.01122.x.
RGD ID: 11352749
Pubmed: PMID:20831548   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2710.2009.01122.x   (Journal Full-text)

BACKGROUND AND OBJECTIVE: Subjects with different CYP2C19 genotypes may metabolize proguanil, a pro-drug used for malaria prophylaxis differently and the frequency of the different alleles may be different in patients with sickle-cell disease (SCD) and normal controls. The objective of this study was to evaluate CYP2C19 *1, *2 and *3 allele and genotype frequencies in Nigerian normal controls and SCD patients, and to further compare variant CYP2C19 frequencies in Nigerians with other African populations. METHODS: Genotyping was carried out with PCR and restriction fragment length polymorphism analysis. RESULTS AND DISCUSSION: CYP2C19 *1 (84.3 vs. 84.9%) or *2 allele frequency (15.7 vs. 15.1%) was not significantly different between patients with SCD and normal subjects. No *3 allele was detected in the cohort. The SCD group exhibited a statistically significantly lower frequency of *1/*1 genotype (69.6%) compared with normal controls (74.4%). Frequency of *2/*2 was significantly lower in SCD (0.9%) compared with normal controls (4.7%). Frequencies of *1/*2 (29.6 vs. 20.9%) were no different in SCD and normal controls. CONCLUSION: Prevalence of CYP2C19 polymorphisms was defined for the first time in Nigerian normal and SCD populations. Nigerian SCD patients exhibited significantly lower CYP2C19 *1/*1 and *2/*2 frequencies than normal controls. No differences were detected in CYP2C19 allele or genotype frequencies in normal subjects between this study and previous reports in other African populations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sickle cell anemia susceptibilityIAGP 11352749DNA:polymorphisms: :c.681 G>A and wildtype(human)RGD 
sickle cell anemia susceptibilityISOCYP2C19 (Homo sapiens)11352749; 11352749DNA:polymorphisms: :c.681 G>A and wildtype(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp2c6  (cytochrome P450, family 2, subfamily C, polypeptide 6)

Genes (Mus musculus)
Cyp2c66  (cytochrome P450, family 2, subfamily c, polypeptide 66)

Genes (Homo sapiens)
CYP2C19  (cytochrome P450 family 2 subfamily C member 19)


Additional Information