Skip to main content
. 2016 Jun 24;6:28639. doi: 10.1038/srep28639

Table 1. The HTRA1 polymorphisms identified in PCV subjects.

Polymorphism db SNP ID Codon change Genotypic Frequencies
PCV (n = 188) AMD (n = 195) Control (n = 183) pG pA
−625G>A rs11200638 – 70 84 33 109 63 23 38 90 55 1.00 × 10−4 7.49 × 10−4
−502C>T Reported – 0 15 173 0 14 181 0 20 163 0.33 0.34
−497C>T Reported – 0 7 181 0 6 189 0 8 175 0.75 0.75
−487T>C rs2672598 – 109 67 10 162 31 2 97 68 18 0.23 0.13
c.34delCinsTCCT Novel L12insS 0 5 183 0 2 193 0 16 167 2.90 × 10−2 3.10 × 10−2
c.59C>T Novel A20V 7 30 148 3 42 150 2 56 125 3.70 × 10−3 0.01
c.102C>T rs1049331 A34A 70 84 33 108 64 23 38 90 55 1.00 × 10−4 9.43 × 10−4
c.108G>T rs2293870 G36G 70 84 33 108 64 23 38 90 55 1.00 × 10−4 9.43 × 10−4
c.IVS1-176C>G rs12267142 – 0 17 170 0 19 176 0 25 158 0.17 0.18
c.569G>A Novel R190H 0 1 186 0 0 195 0 0 183 1.00 1.00
c.IVS2+100C>T rs80158665 – 0 4 183 0 4 191 0 8 175 0.23 0.23
c.IVS2+216A>G Reported – 0 1 186 0 0 195 0 1 182 1.00 1.00
c.IVS2+317C>T Reported – 0 2 185 0 2 193 0 1 182 1.00 1.00
c.672C>T Novel N224N 0 1 186 0 0 195 0 0 183 1.00 1.00
IVS3+93C>T rs2239586 – 30 73 84 19 89 87 22 92 69 0.09 0.65
IVS3+167G>A rs2239587 – 30 73 84 19 89 87 22 92 69 0.09 0.65
IVS4+99C>T rs2672582 – 38 76 73 35 105 55 30 86 67 0.41 0.85
IVS5+76_79delGTTT Reported – 7 56 124 0 69 126 0 48 135 – –
IVS5+169G>A rs2672583 – 39 77 71 38 105 52 28 87 68 0.30 0.51
IVS6+58C>T Novel   0 1 186 0 0 195 0 0 183 1.00 .001
IVS6+111G>A rs79778361 – 2 42 144 5 39 151 1 57 125 – –
IVS6+115C>G rs2672585 – 39 77 72 33 107 55 28 88 67 0.27 0.60
IVS7+149C>G rs76357476 – 2 43 143 5 40 150 1 57 125 – –
c.1221C>T rs11538140 D407D 0 3 184 0 3 192 0 5 178 0.46 0.50
IVS8+14G>A rs2272599 – 71 76 40 53 107 35 67 85 31 0.42 0.67
IVS8−36C>T rs2293871 – 34 81 73 28 90 77 24 102 57 – –

pG = genotypic p-value for PCV; pA = allelic p-value for PCV. The genotypic distribution was presented as homozygous/heterozygous/wild type. The rare variants in PCV (R190H) and exudative AMD (R59P, V417I) did not showed significant association either in single marker or grouped analysis.