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. 2007 Nov 19;23(4):507–516. doi: 10.1359/JBMR.071112

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.