TABLE 1.
Normal Phenotype | Deficient Phenotype | Variable Phenotype | ||
---|---|---|---|---|
Race | Genotype, n (%) | Genotype, n (%) | Genotype, n (%) | |
Female | White, non-Hispanic (n=355) | B/B, 354 (99.7) | 0 (0) | A-(202A_376G)/B, A/Asahi, 1 (0.3) |
White, Hispanic (n=61) | B/B, 59 (96.8) A/B, 1 (1.6) |
0 (0) | A-(202A_376G)/B, A/Asahi, 1 (1.6) | |
Black (n=137) | B/B, 58 (42.3) A/B, 40 (29.2) A/A, 7 (5.1) |
A-(202A_376G)/A-(202A_376G), 4 (3.0) A-(202A_376G)/A-(968C_376G), 1 (0.7) A-(968C_376G)/A-(968C_376G), 1 (0.7) |
A-(202A_376G)/B, A/Asahi, 20 (14.6) A-(202A_376G)/A, 6 (4.4) |
|
Multiracial (n=59) | B/B, 50 (84.7) A/B, 6 (10.2) B/Mira d’Aire, 1 (1.7) |
0 (0) | A-(202A_376G)/B, A/Asahi, 2 (3.4) | |
Asian (n=11) | B/B, 11 (100) | 0 (0) | 0 (0) | |
Total females (n=623) | 587 (94.2) | 6 (1) | 30 (4.8) | |
Male | White, non-Hispanic (n=447) | B, 447 (100) | 0 (0) | NA |
White, Hispanic (n=52) | B, 52 (100) | 0 (0) | NA | |
Black (n=159) | B, 105 (66) A, 36 (22.7) |
A-(202A_376G), 18 (11.3) | NA | |
Multiracial (n=89) | B, 80 (89.9) A, 7 (7.9) |
A-(202A_376G), 2 (2.2) | NA | |
Asian (n=21) | B, 20 (95.2) | Kalyan-Kerala, 1 (4.8) | NA | |
Total males (n=768) | 747 (97.3) | 21 (2.7) | NA | |
Total patients | Total (n=1391) | 1334 (95.9) | 27 (2) | 30 (2.1) |
B designates no variant was observed and is considered the wild-type allele; A designates the c.376G SNP was observed alone; A-(202A_376G) designates the c.202A and c.376G SNPS were observed on the same allele; A-(202A_376G)/B, A/Asahi designates the c.202A and c.376G SNPS were observed but it could not be determined if the SNPS were on the same or separate alleles; A-(968C_376G) designates the c.968C and c.376G SNPS were observed on the same allele, Mira d’Aire designates the c.1048C SNP was observed; Kalyan-Kerala designates the c.949A SNP was observed. Race was determined based on PharmacoScan™ assay result.