Table 2

 IGFBP7, ADAMTS3, and IL8 common DNA variants detected by direct sequencing

GeneSNPAllele frequency†† (allele numbers) and p value
LocationPositionNucleotide changeAmino acid substitutionFemale controlsFemale probandsp Value
*Relative to end of preceding exon; †relative to start of following exon; ‡relative to start of exon 3; §relative to last nucleotide of termination codon; ¶relative to the IL8 gene transcriptional start site; **of a single (A) nucleotide; ††of the allele that is less common in the controls; ‡‡linkage disequilibrium (complete LD when r2 = 1.0).
IGFBP7Intron 2+4*T/A0.38 (279/465)0.41 (116/168)0.37
ADAMTS3Intron 1−7†Indel**0.45 (331/397)0.39 (108/172)0.059
ADAMTS3Intron 2−244†A/T0.31 (229/511)0.33 (94/190)0.56
ADAMTS3Intron 2−128†T/CIn complete LD‡‡ with variant ADAMTS3 intron 2 (−244)
ADAMTS3Exon 3+316‡A/GArg138Lys0.38 (284/458)0.33 (97/195)0.16
ADAMTS3Intron 12−19†A/C0.03 (22/712)0.07 (19/269)0.015
ADAMTS3Intron 15+66*C/T0.19 (140/598)0.18 (51/239)0.67
ADAMTS33′ UTR+937§G/A0.08 (63/681)0.10 (29/259)0.49
IL8Promoter−251¶A/T0.44 (330/414)0.46 (131/155)0.73
IL8Intron 1396¶G/TIn complete LD‡‡ with variant IL8 promoter (−251)
IL8Intron 1781¶C/TIn complete LD‡‡ with variant IL8 intron 3 (1633)
IL8Intron 21238¶Indel**Could not be genotyped owing to poly (A) run
IL8Intron 31633¶T/C0.42 (310/420)0.44 (125/161)0.78
IL83′ UTR2767¶A/T0.40 (295/437)0.43 (123/163)0.48