Analysis of CYP2D6 Allele Frequencies and Identification of Novel SNPs and Sequence Variations in Sardinians

Table 8

CYP2D6 predicted enzymatic activity frequencies in 250 healthy Sardinian people and previous frequencies found in reference Populations. In these results, “Sardinian haplotypes 1 and 2” are considered predictive of PM phenotype as CYP2D6*41 allele, and “Sardinian haplotypes 3 and 4” are considered predictive of EM phenotype as CYP2D6*2 allele. Unkown frequency is relative to association with CYP2D6*28 allele.

Predicted enzymatic activity	Sardinian frequencies (%); (𝑛=250)	German frequencies (%); (𝑛=589) [18]	White subjects frequencies (%); (𝑛=308) [23]	Caucasian frequencies (%); (𝑛=44) [29]
EM	29.6	53.9	37.3	56.7
IM	62.0	36.3	45.5	27.4
PM	4.4	7.2	15.9	15.9
UM	2.4	2.6	1.3	—
Unknown	1.6	—	—	—