Table 3.
Single Nucleotide Polymorphisms (SNPs) in Estrogen-related Genes Significantly Associated with PD Susceptibility in Sex-Specific Analysesa
| Gene | SNP | Chromosome | Positionb | Type of Variant SNPc | Allele | Minor Allele Frequencies
|
Log Additive Model OR (95% CI)d | Log Additive Model P valuee | |
|---|---|---|---|---|---|---|---|---|---|
| Cases % | Controls % | ||||||||
| Men-Men Pairs (n = 555 pairs) | |||||||||
| ESR1 | rs10484922 | 6 | 152174010 | Intronic | C/T | 9.7 | 8.7 | 1.64 (1.17 – 2.31) | 0.004 |
| ESR2 | rs12434245 | 14 | 63761606 | Intronic | C/T | 9.2 | 7.6 | 1.58 (1.13 – 2.22) | 0.007 |
| ESR1 | rs7761133 | 6 | 152193556 | Intronic | C/T | 15.8 | 14.8 | 1.44 (1.09 – 1.90) | 0.01 |
| ESR1 | rs9322331 | 6 | 152204010 | Intronic | C/T | 32.8 | 34.2 | 0.78 (0.64 – 0.95) | 0.02 |
| ESR2 | rs7159462 | 14 | 63828629 | Intronic | C/T | 9.4 | 8.0 | 1.49 (1.07 – 2.07) | 0.02 |
| ESR1 | rs3778099 | 6 | 152460268 | Intronic | C/T | 10.8 | 9.2 | 1.48 (1.06 – 2.06) | 0.02 |
| ESR1 | rs7761846 | 6 | 152254201 | Intronic | C/T | 7.8 | 9.0 | 0.65 (0.44 – 0.96) | 0.03 |
| ESR1 | rs1514348 | 6 | 152224008 | Intronic | T/G | 40.4 | 41.8 | 0.81 (0.66 – 0.99) | 0.04 |
| ESR1 | rs985694 | 6 | 152328318 | Intronic | C/T | 15.7 | 15.0 | 1.32 (1.01 – 1.71) | 0.04 |
| CYP19A1 | rs3751591 | 15 | 49394002 | Intronic | A/G | 17.1 | 16.3 | 1.31 (1.01 – 1.70) | 0.04 |
| ESR1 | rs2813543 | 6 | 152466171 | Near 3′ UTR | A/G | 22.4 | 24.3 | 0.78 (0.61 – 0.99) | 0.04 |
| Women-Women Pairs (n = 332 pairs) | |||||||||
| PRDM2 | rs2744690 | 1 | 14010388 | Intronic | A/C | 16.5 | 12.3 | 1.98 (1.34 – 2.92) | 0.0006 |
| PRDM2 | rs2744687 | 1 | 14011400 | Intronic | T/G | 15.1 | 11.4 | 1.97 (1.31 – 2.96) | 0.001 |
| PRDM2 | rs2744679 | 1 | 14024257 | Near 3′ UTR | A/G | 20.4 | 16.6 | 1.75 (1.24 – 2.46) | 0.001 |
| PRDM2 | rs2697962 | 1 | 14023579 | 3′ UTR | C/T | 16.7 | 13.0 | 1.81 (1.25 – 2.62) | 0.002 |
| PRDM2 | rs2235514 | 1 | 14019522 | Intronic | A/G | 16.7 | 13.1 | 1.80 (1.25 – 2.59) | 0.002 |
| PRDM2 | rs2244634 | 1 | 14006741 | Intronic | T/G | 21.5 | 17.7 | 1.64 (1.16 – 2.32) | 0.005 |
| PRDM2 | rs6669610 | 1 | 14021343 | Intronic | C/T | 6.8 | 7.8 | 0.52 (0.32 – 0.84) | 0.008 |
| CYP19A1 | rs2470157 | 15 | 49377192 | Intronic | A/G | 9.0 | 11.0 | 0.58 (0.37 – 0.89) | 0.01 |
| PRDM2 | rs2473231 | 1 | 14028265 | — | C/G | 41.1 | 39.2 | 1.37 (1.06 – 1.77) | 0.02 |
| CYP19A1 | rs730154 | 15 | 49378496 | Intronic | C/T | 14.4 | 16.2 | 0.68 (0.48 – 0.97) | 0.03 |
| ESR2 | rs1255998 | 14 | 63763624 | 3′ UTR | C/G | 10.2 | 9.9 | 1.68 (1.01 – 2.78) | 0.04 |
a
The SNPs are listed in order of decreasing statistical significance as indicated by the uncorrected P values. None of the SNPs had significant interactions with sex after correction for multiple testing.
b
NCBI build 36 of the human genome.
c
UTR = untranslated region.
d
Log additive model; OR = odds ratio, CI = confidence interval.
e
Log additive model; uncorrected P values. No SNPs remained significant after Bonferroni correction or after permutation correction for multiple comparisons.