Table 2. SNPs of microcephaly-related genes that are hypothesized to be associated with lexical tone perception.
Gene | SNP | Population | Phenotype |
Allele frequency in dbSNP database |
Allele frequency in our sample |
N of cases for each genotype in our sample |
Total N of cases |
References | ||
MCPH1 | rs1057090 | Han Chinese | Cranial volume |
T = 0.672; C = 0.328 |
T = 0.698; C = 0.302 |
TT = 210 | TC = 172 | CC = 42 | 424 | (26) |
MCPH1 | rs11779303 | European (Norwegian) |
Cortical area |
G = 0.966; C = 0.034 |
G = 0.960; C = 0.040 |
GG = 390 | GC = 34 | CC = 0 | 424 | (25) |
MCPH1 | rs930557 | European (Norwegian) |
Pitch perception |
C = 0.764; G = 0.236 |
C = 0.754; G = 0.246 |
CC = 240 | CG = 159 | GG = 25 | 424 | (3, 23) |
MCPH1 | rs2816517 | European (Norwegian) |
Brain volume |
C = 0.824; A = 0.176 |
C = 0.800; A = 0.200 |
CC = 277 | CA = 124 | AA = 23 | 424 | (25) |
ASPM | rs41310927 | European (Norwegian) |
Pitch perception |
T = 0.836; C = 0.164 |
T = 0.838; C = 0.162 |
TT = 299 | TC = 113 | CC = 12 | 424 | (3, 23) |
CDK5RAP2 | rs1888893 | European (Norwegian) |
Cortical area |
A = 0.855; G = 0.145 |
A = 0.863; G = 0.137 |
AA = 310 | AG = 96 | GG = 9 | 415 | (25) |
CDK5RAP2 | rs4836819 | European (Norwegian) |
Cortical area |
G = 0.818; A = 0.182 |
G = 0.808; A = 0.192 |
GG = 275 | GA = 135 | AA = 14 | 424 | (25) |
CDK5RAP2 | rs7859743 | European (Norwegian) |
Cortical area |
G = 0.815; A = 0.185 |
G = 0.807; A = 0.193 |
GG = 273 | GA = 138 | AA = 13 | 424 | (25) |
CDK5RAP2 | rs914592 | European (Norwegian) |
Cortical area |
A = 0.897; G = 0.103 |
A = 0.871; G = 0.129 |
AA = 323 | AG = 93 | GG = 8 | 424 | (25) |