Table 2. Known single nucleotide polymorphisms (SNPs) and novel intron variants identified in patients with POF.
| Variation | Location | Amino acid variation | dpSNP ID | Genotype frequency (%) | Allele frequency (%) | P-valuec | Referenced | ||
|---|---|---|---|---|---|---|---|---|---|
| POF | Asian Populationa/controlsb | POF | Asian Populationa/controlsb | ||||||
| c.330T > C | Exon 1 | Synonymous | rs1799925 | TT(46.0) | NA | T(68.5) | T(67.5) | >0.05 | f, g |
| TC(44.9) | NA | C(31.5) | C(32.5) | ||||||
| CC(9.1) | NA | ||||||||
| c.647-27C > T | Intron 1 | Novel | CC(99.7) | CC(100) | C(99.9) | C(100) | >0.05 | f, g | |
| TC(0.3) | TC(0) | T(0.1) | T(0) | ||||||
| TT(0) | TT(0) | ||||||||
| c.647-13G > A | Intron1 | Novel | GG(99.7) | GG(100) | G(99.9) | G(100) | >0.05 | f, g | |
| GA(0.3) | GA(0) | A(0.1) | A(0) | ||||||
| AA(0) | AA(0) | ||||||||
| c.647-13G > C | Intron1 | Novel | GG(99.7) | GG(100) | G(99.9) | G(100) | >0.05 | f, g | |
| GC(0.3) | GC(0) | C(0.1) | C(0) | ||||||
| CC(0) | CC(0) | ||||||||
| c.770-57T > C | Intron 2 | rs2234585 | TT(45.3) | NA | T(69.8) | T(65.8) | >0.05 | f, g | |
| TC(49.0) | NA | C(30.2) | C(34.2) | ||||||
| CC(5.7) | NA | ||||||||
| c.872 + 16G > A | Intron 3 | rs1799933 | GG(97.4) | GG(95.6) | G(98.5) | G(97.8) | >0.05 | f, g | |
| GA(2.2) | GA(4.4) | A(1.5) | A(2.2) | ||||||
| AA(0.4) | AA(0) | ||||||||
| c.872 + 82T > G | Intron 3 | rs5030170 | TT(50.9) | NA | T(71.5) | T(65.8) | >0.05 | f, g | |
| TG(41.2) | NA | G(28.5) | G(34.2) | ||||||
| GG(7.9) | NA | ||||||||
| c.872 + 85C > G | Intron3 | rs5030171 | CC(45.6) | NA | C(67.1) | C(65.8) | >0.05 | f, g | |
| CG(43.0) | NA | G(32.9) | G(34.2) | ||||||
| GG(11.4) | NA | ||||||||
| c.950 + 14T > C | Intron 4 | Novel | TT(99.7) | TT(100) | T(99.9) | T(100) | >0.05 | f, g | |
| TC(0.3) | TC(0) | C(0.1) | C(0) | ||||||
| CC(0) | CC (0) | ||||||||
| c.950 + 85G > A | Intron 4 | rs2295081 | GG(50) | GG(52.2) | G(71.7) | G(71.7) | >0.05 | f, g | |
| AG(43.4) | AG(39.1) | A(28.3) | A(28.3) | ||||||
| AA(6.6) | AA(8.7) | ||||||||
| c.1107G > A | Exon 7 | Synonymous | rs16754 | GG(49.6) | GG(63.4) | G(71.4) | G(76.8) | >0.05 | f, g |
| AG(43.6) | AG(26.8) | A(28.6) | A(23.2) | ||||||
| AA(6.8) | AA(9.8) | ||||||||
| c.1249 + 134A > T | Intron 7 | rs5030277 | AA(51.3) | AA(56.1) | A(71.1) | A(73.2) | >0.05 | f, g | |
| AT(39.5) | AT(34.1) | T(28.9) | T(26.8) | ||||||
| TT(9.2) | TT(9.8) | ||||||||
| c.1432 + 42T > A | Intron 9 | rs192734605 | TT(99.2) | NA | T(99.6) | T(99.0) | >0.05 | f, g | |
| TA(0.8) | NA | A(0.4) | A(1.0) | ||||||
| AA(0) | NA | ||||||||
| c.1433-49 C > T | Intron 9 | rs1799937 | CC(56.0) | CC(63.4) | C(74.5) | C(76.8) | >0.05 | f, g | |
| CT(37.0) | CT(26.8) | T(25.5) | T(23.2) | ||||||
| TT(7.0) | TT(9.8) | ||||||||
NA: Not available.
aData from http://www.ncbi.nlm.nih.gov/SNP/.
bThe SNPs were compared with Asian population and the novel variants were compared with the controls.
cComparison of the allele frequency between patients with POF and Asian population/controls.
df = Ensembl accession number ENST00000332351. g = Ensembl accession number ENSP00000331327.