Table 2.
SNPs With Significant p Values for Association With Clinical Otosclerosis in the Belgian-Dutch Population
Gene | SNP | Region | Nucleotide change* | Amino acid change† | Interaction‡ | Additive§ | Dom/Rec¶ |
BMP2 | rs3178250 | 3′UTR | g.6700201T>C | 0.303 | 0.215 | 0.007 | |
BMP4 | rs17563 | Exon 4 | g.35417272A>G | p.Ala152Val | 0.404 | 0.028 | |
CD46 | rs2796267 | 5′ gene flanking region | g.1442685G>A | 0.022 | F:0.392 | ||
M:0.024 | |||||||
rs2796270 | Intronic | g.1455391G>A | 0.003 | F:0.062 | |||
M:0.021 | |||||||
FGF2 | rs167428 | Intronic | g.48321586T>C | 0.560 | 0.052 | 0.027 | |
rs17407577 | Intronic | g.48327488T>C | 0.275 | 0.044 | |||
rs1960669 | Intronic | g.48330715C>A | 0.982 | 0.006 | |||
OTOR | rs6044284 | 3′ gene flanking region | g.16674689G>A | 0.349 | 0.016 | ||
PTH | rs6254 | Intronic | g.12301504C>T | 0.003 | F:0.008 | ||
M:0.087 | |||||||
rs751610 | Intronic | g.12303620C>T | 0.009 | F:0.116 | |||
M:0.039 | |||||||
RARA | rs4890109 | Intronic | g.2232400G>T | 0.867 | 0.012 | ||
SLAMF1 | rs2295612 | Exon 1 | g.11107058G>T | p.Phe11Leu | 0.637 | 0.019 | |
LCT | rs4988235** | 5′ gene flanking region | g.25316568G>A | 0.472 | 0.242 |
* The following nucleotide reference sequences were used:for BMP2, NT_011387.8; for BMP4, NT_026437.11; for CD46, NT_021877.18; for FGF2, NT_016354.18; for OTOR, NT_011387.8; for PTH, NT_009237.17; for RARA, NT_010755.15; for SLAMF1, NT_004487.18; for LCT, NT_022135.15.
† The following protein reference sequences were used:for BMP4, NP_001193.1; for SLAMF1, NP_003028.1.
‡ Interaction for sex assuming an additive model.
§ p value assuming an additive model; F, females; M, males.
¶ p value assuming a dominant/recessive model.
** Included to assess population stratification.