Table 9.
Dominant([RR+RN] vs. NN) |
Heterozygotes(RR vs. NN) |
Recessive(RR vs. [RN+NN]) |
Homozygotes(RR vs. NN) |
|||||||||||
SNP (Allele) | Gene | Subtype | OR | 95% CI | AR | P | OR | AR | OR | 95% CI | AR | P | OR | AR |
rs6658788 (2) | CNV | .84 | .56–1.25 | −13.41 | .36706 | 1.21 | 6.19 | 1.11 | .73–1.68 | 2.5 | .68123 | .95 | −2.26 | |
rs6658788 (2) | GA | .88 | .55–1.4 | −9.92 | .63064 | 1.07 | 2.18 | 1.01 | .62–1.66 | .35 | 1.00000 | .92 | −3.97 | |
rs1538687 (2) | CNV | .71 | .5–1.02 | −17.04 | .07499 | .54 | −10.68 | .47 | .25–.9 | −5.97 | .02020 | .42 | −11.38 | |
rs1538687 (2) | GA | .62 | .41–.94 | −23.86 | .03170 | .56 | −10.14 | .45 | .2–1.01 | −6.25 | .07239 | .38 | −12.32 | |
rs1416962 (2) | CNV | .88 | .61–1.25 | −7.7 | .41676 | 1.02 | .46 | .95 | .56–1.62 | −.62 | .89111 | .89 | −2.63 | |
rs1416962 (2) | GA | .77 | .51–1.17 | −15.12 | .24708 | .69 | −7.53 | .62 | .31–1.24 | −5.07 | .22948 | .57 | −11.11 | |
rs946755 (2) | CNV | .84 | .59–1.2 | −9.81 | .37326 | 1.14 | 2.86 | 1.03 | .6–1.78 | .37 | 1.00000 | .94 | −1.39 | |
rs946755 (2) | GA | .73 | .48–1.11 | −18.18 | .17258 | .79 | −4.46 | .69 | .34–1.38 | −3.8 | .37606 | .6 | −9.26 | |
rs6428352 (2) | CNV | … | … | … | … | … | … | … | … | … | … | … | … | |
rs6428352 (2) | GA | … | … | … | … | … | … | … | … | … | … | … | … | |
rs800292 (1) | CFH | CNV | .48 |
.33–.7 | −26.97 |
.00020 | .53 | −21.4 | .21 | .07–.64 | −4.59 | .00530 | .18 | −7.64 |
rs800292 (1) | CFH | GA | .39 |
.25–.62 | −33.02 |
.00020 | .44 | −26.29 | .09 | .01–.75 | −5.33 | .01130 | .08 | −8.66 |
rs1061170 (2) | CFH | CNV | 5.25 |
3.22–8.55 | 68 |
<.0001 | 2.37 | 24.74 | 4.11 |
2.2–7.69 | 27.24 |
<.0001 | 9.35 |
61.82 |
rs1061170 (2) | CFH | GA | 5.76 |
3.17–10.47 | 70.42 |
<.0001 | 3.31 | 35.78 | 5.66 |
2.9–11.04 | 35.95 |
<.0001 | 12.26 |
68.61 |
rs10922093 (1) | CFH | CNV | .56 | .37–.85 | −28.05 | .00830 | .61 | −20.84 | .4 | .18–.91 | −5.96 | .03270 | .33 | −11.72 |
rs10922093 (1) | CFH | GA | .51 | .31–.84 | −32.2 | .00890 | .58 | −23.06 | .26 | .08–.85 | −7.43 | .03200 | .21 | −14.08 |
rs70620 (1) | CFH | CNV | .77 | .52–1.14 | −7.45 | .23338 | .8 | −5.9 | .63 | .24–1.69 | −1.46 | .42256 | .6 | −2.2 |
rs70620 (1) | CFH | GA | .72 | .45–1.15 | −9.48 | .18978 | .78 | −6.4 | .28 | .06–1.36 | −2.9 | .17068 | .26 | −4.1 |
rs1853883 (2) | CNV | 2.52 |
1.64–3.89 | 52.14 |
.00020 | 1.5 | 15.44 | 1.88 | 1.28–2.78 | 18.84 | .00140 | 3.2 |
51.28 |
|
rs1853883 (2) | GA | 3.54 |
1.97–6.36 | 64.51 |
<.0001 | 1.95 | 25.93 | 2.57 |
1.65–4 | 29.15 |
.00030 | 5.12 |
66.42 |
|
rs1360558 (1) | CNV | 1.1 | .76–1.59 | 5.96 | .64364 | 1.04 | 2.29 | 1.24 | .78–1.98 | 3.75 | .41376 | 1.27 | 7.61 | |
rs1360558 (1) | GA | 1.16 | .75–1.79 | 9.09 | .57904 | 1.13 | 6.6 | 1.17 | .68–2.02 | 2.67 | .67873 | 1.25 | 7.14 | |
rs955927 (2) | CNV | 1.12 | .78–1.63 | 7.31 | .51105 | 1.32 | 7.01 | 1.34 | .83–2.17 | 4.9 | .20048 | 1.38 | 9.84 | |
rs955927 (2) | GA | 1.08 | .7–1.67 | 5 | .74163 | 1.18 | 4.02 | 1.2 | .68–2.1 | 2.86 | .57564 | 1.22 | 6.06 | |
rs4350226 (2) | CNV | .55 | .34–.91 | −8.65 | .02090 | … | … | … | … | … | … | … | … | |
rs4350226 (2) | GA | .52 | .28–.96 | −9.46 | .04620 | … | … | … | … | … | … | … | … | |
rs4752266 (2) | GRK5 | CNV | .93 | .65–1.34 | −2.87 | .71243 | 3.13 | 10.08 | 2.82 | .96–8.24 | 3.9 | .06229 | 2.63 | 5.74 |
rs4752266 (2) | GRK5 | GA | .78 | .51–1.19 | −10.33 | .27667 | 3.67 | 12.31 | 2.88 | .9–9.23 | 4.04 | .06909 | 2.51 | 5.33 |
rs915394 (2) | GRK5 | CNV | 1.39 | .96–2.01 | 11.91 | .08469 | 1.28 | 2.23 | 1.56 | .57–4.3 | 1.54 | .48645 | 1.74 | 2.96 |
rs915394 (2) | GRK5 | GA | 1.09 | .7–1.67 | 2.88 | .74493 | 1.38 | 2.94 | 1.42 | .44–4.58 | 1.17 | .57824 | 1.45 | 1.81 |
rs1268947 (2) | GRK5 | CNV | 1.15 | .75–1.75 | 3.15 | .52415 | 1.23 | 1.72 | 1.35 | .36–5.05 | .58 | .76382 | 1.39 | .8 |
rs1268947 (2) | GRK5 | GA | .78 | .46–1.32 | −5 | .42146 | 1.24 | 1.82 | 1 | .2–5.02 | 0 | 1.00000 | .95 | −.1 |
rs1537576 (2) | GRK5 | CNV | 1.57 | 1.07–2.3 | 27.1 | .02110 | .88 | −4.02 | 1.06 | .69–1.63 | 1.3 | .83192 | 1.44 | 14.26 |
rs1537576 (2) | GRK5 | GA | 1.84 | 1.15–2.94 | 35.48 | .01430 | 1.17 | 5.17 | 1.44 | .89–2.34 | 8.51 | .17778 | 2.04 | 28.32 |
rs2039488 (2) | CNV | .76 | .48–1.2 | −5.05 | .28877 | .2 | −12.5 | .18 | .03–.91 | −2.36 | .03180 | .17 | −2.88 | |
rs2039488 (2) | GA | .62 | .35–1.09 | −8.3 | .11599 | .27 | −11.29 | .2 | .02–1.7 | −2.3 | .21758 | .19 | −2.83 | |
rs1467813 (1) | RGS10 | CNV | .95 | .67–1.36 | −2.31 | .85551 | .98 | −.68 | .83 | .45–1.54 | −1.61 | .63004 | .83 | −2.79 |
rs1467813 (1) | RGS10 | GA | .85 | .56–1.29 | −7.69 | .52905 | .88 | −5.73 | .81 | .39–1.69 | −1.85 | .70453 | .76 | −3.85 |
rs927427 (1) | CNV | 1.08 | .72–1.63 | 5.82 | .75722 | .91 | −6.99 | 1.76 | 1.13–2.74 | 11.97 | .01070 | 1.65 | 21.15 | |
rs927427 (1) | GA | 1.1 | .68–1.78 | 6.67 | .81152 | .98 | −1.63 | 1.5 | .9–2.5 | 8.16 | .15618 | 1.47 | 16.43 | |
rs4146894 (1) | PLEKHA1 | CNV | 2.53 |
1.64–3.91 | 52.45 |
<.0001 | 1.94 | 37.72 | 2.46 |
1.63–3.71 | 23.64 |
<.0001 | 3.95 |
56 |
rs4146894 (1) | PLEKHA1 | GA | 2.09 | 1.24–3.51 | 44 | .00690 | 1.77 | 33.08 | 1.92 | 1.2–3.08 | 16.31 | .00840 | 2.87 |
44.63 |
rs12258692 (2) | PLEKHA1 | CNV | … | … | … | … | … | … | … | … | … | … | … | … |
rs12258692 (1) | PLEKHA1 | GA | … | … | … | … | … | … | … | … | … | … | … | … |
rs4405249 (1) | PLEKHA1 | CNV | .53 | .27–1.02 | −16.43 | .06989 | .51 | −16.36 | .97 | .11–8.85 | −.05 | 1.00000 | .83 | −.41 |
rs4405249 (1) | PLEKHA1 | GA | .63 | .3–1.33 | −12.27 | .17898 | .64 | −11.43 | .57 | .04–9.31 | −.76 | 1.00000 | .51 | −1.2 |
rs1045216 (2) | PLEKHA1 | CNV | .5 | .32–.78 | −48.35 | .00260 | .4 | −22.18 | .31 |
.17–.58 | −15.72 |
.00020 | .25 |
−38.01 |
rs1045216 (2) | PLEKHA1 | GA | .44 |
.26–.72 | −58.72 |
.00100 | .45 | −19.85 | .32 | .15–.7 | −15.46 | .00170 | .24 |
−38.67 |
rs1882907 (2) | CNV | .52 | .35–.77 | −19.38 | .00240 | .7 | −3.08 | .44 | .14–1.38 | −1.91 | .20808 | .38 | −3.11 | |
rs1882907 (2) | GA | .6 | .38–.95 | −15.9 | .03500 | .22 | −8.27 | .16 | .02–1.37 | −2.89 | .12039 | .14 | −4.32 | |
rs10490923 (2) | LOC387715 | CNV | .48 | .28–.85 | −14.84 | .01140 | .17 | −11.63 | .1 | .01–.98 | −2.89 | .04130 | .09 | −3.78 |
rs10490923 (2) | LOC387715 | GA | .74 | .39–1.38 | −7.07 | .41496 | .58 | −5.49 | .48 | .08–2.91 | −1.66 | .65244 | .45 | −2.24 |
rs2736911 (2) | LOC387715 | CNV | .71 | .41–1.22 | −7.12 | .24548 | 1.22 | .96 | .92 | .09–8.92 | −.08 | 1.00000 | .86 | −.18 |
rs2736911 (2) | LOC387715 | GA | .62 | .32–1.19 | −9.43 | .13179 | 2.2 | 4.96 | 1.43 | .13–15.97 | .42 | 1.00000 | 1.3 | .38 |
rs10490924 (2) | LOC387715 | CNV | 5.64 |
3.52–9.06 | 60.52 |
<.0001 | 2.81 | 23.7 | 6.18 |
2.62–14.59 | 22.67 |
<.0001 | 12.11 |
46.39 |
rs10490924 (2) | LOC387715 | GA | 3.43 |
2.02–5.84 | 44.55 |
<.0001 | 2.63 | 21.83 | 4.74 |
1.9–11.84 | 17.47 |
.00030 | 7.05 |
32.05 |
rs11538141 (2) | PRSS11 | CNV | … | … | … | … | … | … | … | … | … | … | … | … |
rs11538141 (2) | PRSS11 | GA | … | … | … | … | … | … | … | … | … | … | … | … |
rs760336 (2) | PRSS11 | CNV | .63 | .43–.92 | −37.33 | .01780 | .71 | −10.35 | .61 | .39–.95 | −10.03 | .03480 | .49 | −30.78 |
rs760336 (2) | PRSS11 | GA | .63 | .4–.98 | −36.73 | .03220 | .84 | −5.52 | .71 | .42–1.19 | −7.3 | .23778 | .56 | −25.69 |
rs763720 (1) | PRSS11 | CNV | 1.77 | 1.24–2.54 | 23.25 | .00310 | 1.69 | 20.43 | 2.1 | .85–5.18 | 3.55 | .12829 | 2.64 | 7.87 |
rs763720 (1) | PRSS11 | GA | 1.74 | 1.14–2.65 | 22.5 | .01070 | 1.4 | 12.86 | 4.71 |
1.88–11.79 | 11.06 |
.00010 | 5.41 |
18.69 |
rs1803403 (1) | PRSS11 | CNV | 3.33 | 1.39–8.02 | 12.17 | .00550 | 3.33 | 12.17 | … | … | … | … | … | … |
rs1803403 (1) | PRSS11 | GA | 3.85 | 1.53–9.72 | 14.49 | .00390 | 3.85 | 14.49 | … | … | … | … | … | … |
Note.— OR and AR values are underlined if corresponding P values (by χ2 test; P values simulated using 10,000 replicates) are ⩽.001, and are in bold italics if P values are ⩽.05. Allele denotes the risk allele (minor allele in controls). RR = homozygotes for the risk allele; RN = heterozygotes for the risk allele; NN = homozygotes for the normal allele. Locally typed SNPs are in bold italics. Blank spaces separate the three chromosomal regions corresponding to SNPs in and around CFH, GRK5/RGS10, and PLEKHA1/LOC687715/PRSS11.