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CYP2C9*61 , a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements

2018; Future Medicine; Volume: 20; Issue: 1 Linguagem: Inglês

10.2217/pgs-2018-0143

1744-8042

Karla Claudio‐Campos, Pablo González-Santiago, Jessica Y. Renta, Jovaniel Rodríguez, Kelvin Carrasquillo, Andrea Gaedigk, Abiel Roche, Jorge Ducongé,

Steroid Chemistry and Biochemistry

Warfarin continues to be the mainstay therapy for preventing thrombus formation. Although pharmacogenetic algorithms have shown higher predictability of the optimal warfarin dose and lower occurrence of bleeding episodes, they often do not include ethno-specific genetic variants relevant to non-Europeans. This case report describes a rare missense variant at exon 9 of CYP2C9 (rs202201137; c.1370A>G transition; p.Asn457Ser) found in a Puerto Rican patient with low warfarin dose requirements (3 mg/day). The haplotype characterized by two amino acid changes, Asn457Ser and Arg144Cys (rs1799853; c.430C>T), has been designated CYP2C9*61 by the Pharmacogene Variation Consortium. According to prediction scores assessed with the Combined Annotation Dependent Depletion tool, CYP2C9*61 (p.Asn457Ser) was classified as nondeleterious, therefore its impact on CYP2C9 enzymatic activity cannot be postulated.