Table 1.
Association of fibroid size with a selected set of single nucleotide polymorphisms in the NIEHS uterine fibroid study
| proportional odds models, P | |||||||||
|---|---|---|---|---|---|---|---|---|---|
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| three-level tumor size (case-only) | four-level | ||||||||
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| SNP | chr | position, bp | gene/region | MAF | AA (n=393) | EA (n=195) | all (n=588) | all (n=916) | |
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| AA | EA | ||||||||
| rs4670767G>T | 2p21 | 37,714,253 | CDC42EP3 | 0.04 | 0.11 | - | 0.0017 | 0.0042 | 0.0086 |
| rs12692201C>T | 2q37 | 237,332,180 | COL6A3* | 0.23 | .0.34 | - | - | 0.0610 | 0.0030 |
| rs3790997A>G | 2q37 | 237,351,805 | COL6A3* | 0.43 | 0.43 | 0.0067 | - | - | - |
| rs10178599A>G | 2q37 | 237,355,580 | COL6A3* | 0.38 | 0.25 | 0.0027 | - | - | - |
| rs9881945G>T | 3p22 | 30,620.96 | TGFBR2 | 0.14 | 0.04 | 0.0015 | - | - | - |
| rs17296973T>G | 3p21.31 | 46,553,941 | LRRC2* | 0.02 | 0.00 | - | na | 0.0176 | 0.0041 |
| rs17657688T>C | 3p21.3 | 49,995,795 | RBM6 | 0.38 | 0.41 | 0.0067 | - | - | - |
| rs10040852G>A | 5p13-p12 | 38,580,639 | LIFR-AS1* | 0.49 | 0.48 | - | 0.0065 | 0.0140 | 0.0006 |
| rs10512687C>T | 5p13-p12 | 38,581,160 | LIFR-AS1* | 0.17 | 0.49 | - | 0.0065 | - | - |
| rs4746912T>G | 10q22 | 71,564,996 | COL13A1 | 0.38 | 0.23 | - | - | - | 0.0101 |
| rs2763357C>T | 10q22 | 71,573,082 | COL13A1 | 0.48 | 0.30 | - | - | - | 0.0004 |
| rs7088833G>A | 10q22 | 69,813,398 | COL13A1 | 0.31 | 0.21 | - | - | - | 0.0090 |
| rs12777790G>A | 10q22 | 69,824,393 | COL13A1 | 0.02 | 0.14 | - | - | 0.0068 | 0.0040 |
| rs1227759A>G | 10q22 | 69,831,131 | COL13A1 | 0.11 | 0.08 | - | - | - | 0.0046 |
| rs11597960T>C | 10q22 | 69,843,636 | COL13A1 | 0.22 | 0.02 | 0.0076 | - | 0.0053 | - |
| rs3793832G>A | 10q22 | 71,672,879 | COL13A1 | 0.19 | 0.31 | - | - | - | 0.0010 |
| rs1227779C>T | 10q22 | 71,687,211 | COL13A1 | 0.30 | 0.34 | - | - | - | 0.0011 |
| rs3793825C>T | 10q22 | 71,687,492 | COL13A1 | 0.14 | 0.25 | - | - | - | 0.0069 |
| rs2637229A>G | 10q22 | 71,689,148 | COL13A1 | 0.40 | 0.42 | - | - | - | 0.0007 |
| rs2683571C>G | 10q22 | 71,690,475 | COL13A1 | 0.33 | 0.35 | - | - | - | 0.0095 |
| rs4746938A>G | 10q22 | 69,955,242 | COL13A1 | 0.22 | 0.30 | 0.0060 | - | - | - |
| rs1128413C>T | 11p15.5 | 1,010,694 | AP2A2* | 0.37 | 0.48 | - | - | - | 0.0014 |
| rs14346T>C | 11p15.5 | 1,011,829 | AP2A2* | 0.37 | 0.48 | - | - | - | 0.0017 |
| rs3213216G>A | 11p15 | 2,136,949 | INS-IGF2* | 0.14 | 0.36 | - | - | - | 0.0034 |
| rs2946788G>T | 11p14.3 | 2,398,984 | intergenic | 0.22 | 0.27 | - | - | - | 0.0098 |
Association of tumor size with single nucleotide polymorphisms (SNPs) from genes with regulated expression in uterine leiomyoma (UL) that map (positional genes shown with asterisks) or do not map (non-positional genes) under the peaks of linkage or admixture linkage disequilibrium for UL in the Women’s Genome Health Study and the Black Women health Study, respectively. (P) Bonferroni-unadjusted P-value from proportional odds models adjusted for covariates. Only SNPs that met the assumption for proportional odds and were associated at P≤0.01 in either model or design are shown. The four-level tumor size outcome includes UL-free controls as the lowest category in the polytomous outcome. (MAF) minor allele frequency in the African American (AA) or European American (EA) case and control samples. (chr) chromosomal band. All SNPs are intronic or intergenic except for rs4670767 (DNAse I hypersensitivity site upstream of Rho GTPase binding 3-encoding CDC42EP3), rs6808142 (immediate downstream region of leucine rich repeat containing 2-encoding LRRC2), rs1128413 and rs14346 (missense and 3’UTR variants, respectively, in the adaptor-related protein complex 2-encoding AP2A2). (na) non apply (monomorphic SNP).