Table 2.
Association of fibroid size with a random 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 | ||||||||
| rs3014712C>A | 1p35 | 25,991,356 | MAN1C1 | 0.21 | 0.23 | 0.0146 | - | - | - |
| rs10789144A>T | 1p34.2 | 40,489,484 | ZFP69 | 0.11 | 0.49 | - | 0.0083 | - | - |
| rs632866T>G | 1p34.2 | 43,204,953 | WDR65 | 0.45 | 0.13 | - | 0.0024 | - | - |
| rs4636401C>T | 1p31.1 | 72,701,949 | intergenic | 0.23 | 0.30 | 0.0048 | - | - | - |
| rs6728613G>A | 2p25.3 | 1,842,774 | MYT1L | 0.23 | 0.36 | - | - | 0.0001 | - |
| rs520354A>G | 2p24-p23 | 21,036,740 | APOB | 0.17 | 0.45 | 0.0021 | - | - | - |
| rs1016201C>T | 2q35 | 219,822,338 | MIR4268 | 0.12 | 0.44 | - | 0.0021 | - | - |
| rs1494225T>C | 3p24.3 | 22,425,351 | ZNF385D | 0.14 | 0.37 | 0.0066 | - | - | - |
| rs1486335T>C | 3p24.2 | 22,943,656 | intergenic | 0.47 | 0.12 | - | - | 0.0210 | 0.0081 |
| rs1386009T>C | 3p24.2 | 22,946,510 | intergenic | 0.47 | 0.12 | - | - | 0.0203 | 0.0080 |
| rs2362905C>G | 3p14.3 | 58,126,829 | FLNB | 0.29 | 0.23 | - | 0.0099 | - | - |
| rs2811337G>C | 3q22.1 | 129,582,884 | TMCC1 | 0.22 | 0.16 | - | - | 0.0007 | - |
| rs3772616G>A | 3q24 | 148,720,404 | AGTR1 | 0.29 | 0.20 | - | 0.0039 | 0.0036 | - |
| rs1156615C>T | 3q26.31 | 172,603,682 | SPATA16 | 0.16 | 0.45 | - | - | 0.0085 | - |
| rs959880A>C | 3q27.1 | 183,370,825 | MCF2L2 | 0.34 | 0.15 | 0.0025 | - | - | - |
| rs1055152C>T | 3q28 | 189,320,859 | TPRG1 | 0.20 | 0.38 | 0.0042 | - | 0.0025 | - |
| rs2285789G>A | 4p16.1 | 7,654,128 | SORCS2* | 0.19 | 0.30 | - | 0.0046 | 0.0046 | 0.0076 |
| rs9790789A>C | 4p15.2 | 26,860,034 | STIM2 | 0.21 | 0.45 | - | 0.0051 | 0.0076 | - |
| rs1230188C>T | 4q23 | 98,966,297 | METAP1 | 0.35 | 0.15 | - | 0.0082 | - | - |
| rs28595287A>G | 4q25 | 110,446,320 | SEC24B | 0.37 | 0.01 | - | - | - | 0.0024 |
| rs1071738C>G | 4q32.3 | 168,928,238 | PALLD | 0.18 | 0.35 | 0.0088 | - | - | - |
| rs6892396G>A | 5p15.2 | 10,333,026 | MARCH6 | 0.19 | 0.26 | 0.0073 | - | - | - |
| rs35867401T>C | 5p15.2 | 10,354,938 | MARCH6 | 0.19 | 0.30 | 0.0018 | - | - | - |
| rs922554G>A | 5q23 | 123,545,722 | intergenic | 0.20 | 0.28 | - | - | 0.0074 | - |
| rs35294G>T | 5q31 | 142,359,037 | ARHGAP26 | 0.24 | 0.27 | - | - | 0.0197 | 0.0050 |
| rs1904633A>G | 10q22.2 | 68,939,641 | CTNNA3 | 0.27 | 0.22 | - | - | 0.0031 | - |
| rs1904648C>T | 10q22.2 | 68,956,955 | CTNNA3 | 0.23 | 0.22 | - | - | 0.0030 | - |
| rs2071095G>T | 11p15.5 | 2,020,627 | H19* | 0.11 | 0.48 | - | - | - | 0.0071 |
| rs766498G>A | 11p15.4 | 7,257,474 | MIR302E* | 0.40 | 0.02 | - | - | 0.0013 | 0.0027 |
| rs10898815G>A | 11q13 | 72,028,377 | NUMA1 | 0.11 | 0.49 | - | 0.0093 | - | |
| rs905646A>G | 11q14.3 | 88,620,634 | GRM5 | 0.24 | 0.11 | - | 0.0084 | 0.0084 | - |
| rs7104113A>G | 11q23.2 | 115,299,537 | CADM1 | 0.21 | 0.41 | 0.0038 | - | 0.0282 | 0.0078 |
| rs7967165T>C | 12p13 | 1,080,007 | RAD52 | 0.24 | 0.18 | - | - | 0.0098 | - |
| rs870384T>C | 12q15 | 73,076,266 | Intergenic* | 0.30 | 0.28 | 0.0053 | - | - | - |
| rs1185033T>C | 12q21.2 | 80,658,191 | PTPRQ | 0.25 | 0.16 | - | 0.0082 | - | - |
| rs2289009A>G | 15q26.2 | 94,399,268 | MCTP2 | 0.23 | 0.28 | - | 0.0052 | - | - |
| rs1044420G>A | 17p11.2 | 21,000,463 | USP22 | 0.32 | 0.23 | 0.0056 | - | - | - |
| rs799912C>T | 17q21 | 43,105,117 | BRCA1 | 0.16 | 0.36 | - | 0.0100 | 0.0007 | - |
| rs766259A>C | 17q21 | 55,856,082 | PCTP | 0.45 | 0.17 | - | 0.0046 | - | - |
| rs1859860G>T | 17q24.3 | 68,874,961 | intergenic | 0.11 | 0.35 | - | - | 0.0704 | 0.0044 |
Association of uterine leiomyoma (UL) size with a random set of single nucleotide polymorphisms (SNPs) from genes 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) UL cases and controls. (chr) chromosomal band. All SNPs are intronic or intergenic except for rs1055152 (3’UTR of tumor protein p63 regulated 1-encoding TPRG1), rs9790789 (upstream variant in stromal interaction molecule 2-encoding STIM2), rs1071738 (3’UTR of cytoskeletal associated paladin protein-encoding PALLD), rs2071095 (upstream variant in imprinted maternally expressed transcript H19), rs1044420 (3’UTR of cancer progression biomarker ubiquitin specific peptidase 22-encoding USP22). SNP rs2285789 is moderately associated (P=0.097) with the expression of SORCS2 (sortilin-related VPS10 domain containing receptor 2) in peripheral blood mononuclear cells (SNPexpress database).