Table 3.
Association of AGA with Markers at the AR Locus[Note]
Frequency |
TDTa |
Affected/Control Analysis |
Affected/Unaffected Analysis |
||||||||||
SNP andAllele | Affected | Control | Unaffected | Transmitted | Nontransmitted | Pc | P | ORd | CI | P | ORd | CI | Positionb |
rs12560201: | 6.68 × 10−1 | 8.99 × 10−1 | 1.04 | .55–1.82 | 9.38 × 10−1 | .97 | .5–1.87 | 63,335,397 | |||||
G | .112 | .108 | .115 | 23 | 27 | ||||||||
A | .888 | .892 | .885 | ||||||||||
rs1332720: | 1.00 | 1.00 | ND | ND | 1.00 | ND | ND | 64,598,557 | |||||
C | .995 | 1.000 | 1.000 | 0 | 1 | ||||||||
T | .005 | .000 | .000 | ||||||||||
rs1044165: | 1.00 | 9.50 × 10−1 | .98 | .55–1.89 | 1.58 × 10−1 | 1.53 | .85–2.76 | 65,024,747 | |||||
A | .124 | .122 | .178 | 22 | 23 | ||||||||
G | .876 | .878 | .822 | ||||||||||
rs708969: | 5.35 × 10−1 | 1.21 × 10−2 | 2.02 | 1.16–3.53 | 3.90 × 10−3 | 2.27 | 1.29–4 | 65,252,916 | |||||
A | .875 | .776 | .755 | 36 | 29 | ||||||||
T | .125 | .224 | .245 | ||||||||||
rs1379146: | 3.25 × 10−1 | 2.68 × 10−4 | 2.61 | 1.55–4.45 | 4.72 × 10−4 | 2.60 | 1.51–4.5 | 65,389,382 | |||||
T | .872 | .723 | .724 | 39 | 29 | ||||||||
A | .128 | .277 | .276 | ||||||||||
rs1158928: | 1.30 × 10−1 | 1.04 × 10−5 | 3.23 | 1.89–5.56 | 2.08 × 10−5 | 3.22 | 1.85–5.61 | 65,532,217 | |||||
A | .883 | .700 | .701 | 42 | 27 | ||||||||
G | .117 | .300 | .299 | ||||||||||
rs1485682: | 1.30 × 10−1 | 1.97 × 10−5 | 3.13 | 1.82–5.35 | 3.08 × 10−5 | 3.16 | 1.81–5.48 | 65,598,612 | |||||
C | .883 | .707 | .705 | 42 | 27 | ||||||||
T | .117 | .293 | .295 | ||||||||||
rs1385699: | 1.22 × 10−1 | 1.60 × 10−5 | 3.23 | 1.86–5.59 | 9.41 × 10−5 | 3.00 | 1.71–5.32 | 65,608,007 | |||||
A | .887 | .708 | .722 | 44 | 28 | ||||||||
G | .113 | .292 | .278 | ||||||||||
rs1385695: | 2.97 × 10−3 | 1.03 × 10−5 | 4.68 | 2.24–9.78 | 2.40 × 10−8 | 6.57 | 3.17–13.63 | 65,687,533 | |||||
A | .949 | .799 | .739 | 38 | 13 | ||||||||
G | .051 | .201 | .261 | ||||||||||
rs775362: | 4.10 × 10−3 | 2.09 × 10−5 | 4.39 | 2.13–9.21 | 3.73 × 10−8 | 6.40 | 3.11–13.39 | 65,762,194 | |||||
G | .949 | .809 | .744 | 37 | 13 | ||||||||
A | .051 | .191 | .256 | ||||||||||
rs1041668: | 1.49 × 10−4 | 1.80 × 10−6 | 6.42 | 2.74–15.03 | 1.58 × 10−9 | 9.29 | 4.03–21.44 | 65,868,977 | |||||
G | .036 | .194 | .258 | 9 | 39 | ||||||||
A | .964 | .806 | .742 | ||||||||||
rs5964577: | 2.50 × 10−3 | 4.24 × 10−6 | 4.99 | 2.32–10.68 | 1.20 × 10−8 | 7.02 | 3.29–15.08 | 65,954,512 | |||||
A | .954 | .806 | .747 | 36 | 12 | ||||||||
T | .046 | .194 | .253 | ||||||||||
rs532649: | 5.96 × 10−6 | 5.42 × 10−7 | 6.38 | 2.75–14.71 | 2.33 × 10−10 | 9.62 | 4.17–22.13 | 66,050,269 | |||||
A | .960 | .807 | .735 | 37 | 7 | ||||||||
G | .036 | .193 | .265 | ||||||||||
rs989345: | 4.65 × 10−6 | 1.60 × 10−6 | 6.24 | 2.74–14.66 | 6.13 × 10−10 | 9.56 | 4.2–22.29 | 66,084,055 | |||||
A | .964 | .811 | .737 | 36 | 6 | ||||||||
G | .036 | .189 | .263 | ||||||||||
rs938059: | 4.03 × 10−6 | 1.10 × 10−6 | 6.55 | 2.82–15.25 | 9.20 × 10−10 | 9.63 | 4.18–22.17 | 66,119,748 | |||||
C | .036 | .195 | .263 | 7 | 40 | ||||||||
A | .964 | .805 | .737 | ||||||||||
rs925391: | 4.76 × 10−6 | 5.97 × 10−7 | 7.28 | 3.03–18.03 | 1.98 × 10−10 | 11.15 | 4.65–27.42 | 66,123,458 | |||||
G | .969 | .811 | .737 | 38 | 6 | ||||||||
A | .031 | .189 | .263 | ||||||||||
rs5919287: | 4.62 × 10−6 | 2.57 × 10−7 | 6.61 | 2.87–12.82 | 1.76 × 10−10 | 9.70 | 4.22–22.45 | 66,143,635 | |||||
C | .964 | .802 | .734 | 39 | 7 | ||||||||
T | .036 | .198 | .266 | ||||||||||
rs2221799: | 4.62 × 10−6 | 3.37 × 10−7 | 6.53 | 2.84–15.18 | 1.39 × 10−9 | 9.21 | 4.04–21.47 | 66,159,637 | |||||
A | .964 | .804 | .744 | 39 | 7 | ||||||||
G | .036 | .196 | .256 | ||||||||||
rs10521339: | 4.00 × 10−4 | 1.95 × 10−7 | 5.65 | 2.65–12.04 | 2.10 × 10−12 | 9.89 | 4.62–20.7 | 66,291,407 | |||||
A | .954 | .778 | .677 | 11 | 41 | ||||||||
T | .046 | .212 | .323 | ||||||||||
rs2223841: | 9.40 × 10−6 | 1.20 × 10−6 | 5.59 | 2.62–11.94 | 1.72 × 10−11 | 9.48 | 4.48–20.05 | 66,353,192 | |||||
A | .954 | .789 | .688 | 44 | 11 | ||||||||
G | .046 | .211 | .312 | ||||||||||
rs2207081: | 4.33 × 10−6 | 7.00 × 10−7 | 6.21 | 2.8–13.78 | 5.04 × 10−12 | 10.72 | 4.89–23.75 | 66,356,719 | |||||
A | .959 | .792 | .688 | 44 | 10 | ||||||||
G | .041 | .208 | .312 | ||||||||||
rs2497935: | 1.79 × 10−5 | 3.10 × 10−6 | 5.00 | 2.41–10.36 | 3.17 × 10−11 | 8.69 | 4.23–17.87 | 66,447,287 | |||||
A | .949 | .790 | .684 | 45 | 12 | ||||||||
G | .041 | .208 | .316 | ||||||||||
rs962458: | 2.89 × 10−3 | 2.87 × 10−4 | 7.32 | 2.12–25.3 | 2.56 × 10−6 | 11.10 | 3.27–37.74 | 66,528,985 | |||||
G | .015 | .102 | .146 | 2 | 17 | ||||||||
A | .985 | .898 | .854 | ||||||||||
CAGe: | 2.71 × 10−1 f | 66,548,181 | |||||||||||
18 | .042 | .085 | .110 | 13 | 12 | NS | ND | ND | NS | ND | ND | ||
19 | .110 | .106 | .110 | 30 | 39 | NS | ND | ND | NS | ND | ND | ||
20 | .194 | .112 | .103 | 50 | 19 | 2.66 × 10−2 | 1.91 | 1.07–3.41 | 2.20 × 10−2 | 2.10 | 1.10–3.99 | ||
(continued) | |||||||||||||
21 | .147 | .191 | .205 | 32 | 31 | NS | ND | ND | NS | ND | ND | ||
22 | .136 | .122 | .096 | 32 | 28 | NS | ND | ND | NS | ND | ND | ||
23 | .126 | .090 | .068 | 26 | 30 | NS | ND | ND | NS | ND | ND | ||
24 | .084 | .080 | .096 | 19 | 36 | NS | ND | ND | NS | ND | ND | ||
25 | .047 | .064 | .075 | 12 | 14 | NS | ND | ND | NS | ND | ND | ||
rs6152: | 5.88 × 10−5 | 3.80 × 10−6 | 5.26 | 2.45–11.3 | 6.66 × 10−10 | 8.21 | 3.86–17.45 | 66,548,648 | |||||
T | .046 | .201 | .282 | 11 | 40 | ||||||||
C | .954 | .799 | .718 | ||||||||||
GGNe: | 7.79 × 10−5 f | 66,549,360 | |||||||||||
23 | .651 | .495 | .421 | 76 | 43 | 2.06 × 10−3 | 1.91 | 1.26–.2.88 | 2.07 × 10−5 | 2.57 | 1.656–3.98 | ||
24 | .182 | .367 | .461 | 21 | 68 | 5.39 × 10−5 | .38 | .24–.62 | 2.62 × 10−8 | .26 | .161–.42 | ||
rs1204038: | 9.79 × 10−5 | 1.90 × 10−6 | 5.45 | 2.55–11.67 | 2.83 × 10−9 | 7.72 | 3.62–16.46 | 66,571,246 | |||||
A | .046 | .208 | .271 | 11 | 39 | ||||||||
G | .954 | .792 | .729 | ||||||||||
rs5919393: | 1.58 × 10−5 | 6.00 × 10−7 | 5.82 | 2.73–12.41 | 1.69 × 10−8 | 7.88 | 3.7–16.77 | 66,608,378 | |||||
C | .046 | .218 | .274 | 11 | 38 | ||||||||
T | .954 | .782 | .726 | ||||||||||
rs1337080: | 5.73 × 10−3 | 6.71 × 10−4 | 6.73 | 1.92–23.14 | 4.75 × 10−6 | 10.78 | 3.12–36.19 | 66,661,940 | |||||
A | .985 | .907 | .859 | 15 | 2 | ||||||||
G | .015 | .093 | .141 | ||||||||||
XARx7_001g: | 1.00 | 6.79 × 10−2 | 3.95 | .81–19.25 | 1.45 × 10−1 | 3.21 | .61–16.76 | 66,725,646 | |||||
A | .010 | .039 | .032 | 3 | 3 | ||||||||
G | .990 | .961 | .968 | ||||||||||
XARx8insAh: | 3.29 × 10−3 | 5.09 × 10−5 | 4.11 | 1.99–8.47 | 6.62 × 10−8 | 5.94 | 2.94–12.02 | 66,727,141 | |||||
delA | .944 | .804 | .739 | 34 | 13 | ||||||||
A | .056 | .196 | .261 | ||||||||||
rs2781516: | 3.28 × 10−2 | 1.00 × 10−2 | 2.02 | 1.18–3.48 | 2.86 × 10−4 | 2.69 | 1.56–4.64 | 66,885,052 | |||||
A | .128 | .228 | .282 | 21 | 38 | ||||||||
G | .872 | .772 | .718 | ||||||||||
rs2885913: | 4.46 × 10−2 | 1.49 × 10−4 | 2.31 | 1.49–3.57 | 4.29 × 10−5 | 2.53 | 1.62–3.97 | 66,898,824 | |||||
G | .255 | .441 | .465 | 40 | 64 | ||||||||
A | .745 | .559 | .535 | ||||||||||
rs2363785: | 1.73 × 10−2 | 1.82 × 10−4 | 2.28 | 1.47–3.53 | 2.04 × 10−4 | 2.34 | 1.49–3.68 | 66,954,319 | |||||
G | .745 | .562 | .555 | 65 | 37 | ||||||||
T | .255 | .438 | .445 | ||||||||||
rs1936313: | 2.48 × 10−2 | 7.91 × 10−5 | 2.37 | 1.54–3.64 | 9.15 × 10−4 | 2.15 | 1.36–3.37 | 66,983,669 | |||||
T | .744 | .551 | .575 | 65 | 39 | ||||||||
C | .256 | .449 | .425 | ||||||||||
rs492933: | 2.44 × 10−2 | 1.15 × 10−2 | 1.76 | 1.13–2.72 | 2.39 × 10−2 | 1.69 | 1.07–2.65 | 67,046,865 | |||||
C | .736 | .614 | .623 | 67 | 40 | ||||||||
T | .264 | .386 | .377 | ||||||||||
rs1410127: | 2.83 × 10−2 | 8.02 × 10−3 | 1.79 | 1.16–2.76 | 2.13 × 10−2 | 1.71 | 1.08–2.67 | 67,063,402 | |||||
C | .735 | .608 | .619 | 66 | 40 | ||||||||
T | .265 | .392 | .381 | ||||||||||
rs1157321: | 7.83 × 10−4 | 1.59 × 10−5 | 2.89 | 1.75–4.7 | 2.73 × 10−5 | 2.93 | 1.75–4.87 | 67,104,762 | |||||
G | .848 | .659 | .656 | 64 | 27 | ||||||||
T | .152 | .341 | .344 | ||||||||||
rs7887862: | 1.09 × 10−1 | 3.31 × 10−1 | 1.34 | .74–2.41 | 1.28 × 10−1 | 1.65 | .86–3.2 | 67,148,136 | |||||
C | .152 | .118 | .098 | 36 | 21 | ||||||||
T | .848 | .882 | .902 | ||||||||||
rs1927232: | 6.77 × 10−1 | 1.77 × 10−1 | 1.36 | .87–2.11 | 8.23 × 10−1 | 1.06 | .66–1.69 | 67,165,912 | |||||
C | .719 | .653 | .708 | 49 | 44 | ||||||||
T | .281 | .347 | .292 | ||||||||||
rs5965536: | 1.56 × 10−1 | 3.57 × 10−1 | 1.33 | .73–2.41 | 9.50 × 10−1 | 1.02 | .57–1.84 | 67,300,796 | |||||
C | .154 | .121 | .151 | 35 | 24 | ||||||||
G | .846 | .879 | .849 | ||||||||||
rs792952: | 1.39 × 10−1 | 8.45 × 10−1 | 1.05 | .65–1.69 | 8.56 × 10−1 | 1.05 | .64–1.71 | 67,766,144 | |||||
C | .249 | .240 | .240 | 53 | 36 | ||||||||
G | .751 | .760 | .760 |
Note.— ND = not determined; NS = not significant.
Family transmission/disequilibrium test (Knapp and Becker 2003).
UCSC Genome Bioinformatics Plus Strand Build 35.
Permutation-based value for association.
Odds ratio.
Only alleles with frequencies ⩾0.05 in controls.
Global P value.
GCTTTGTCTAATGCTCCTTC[G/A]TGGGCATGCTTCCCCTCCCC (intron 6 of AR).
ACAAGCAAACAAAAAAAAAA[A/delA]GCAAAAACAAAACAAAAAAT (exon 8 of AR).