Table 1.

Common exonic functional variants modifying ADAOO in 125 individuals from the Paisa genetic isolate.

Cohort	Chr	Marker	Position a	Gene	Change	$\widehat{\mathit{\beta }}$ $\left(\mathit{S}{\mathit{E}}_{\widehat{\mathit{\beta }}}\right)$ b	P FDR
E280A	19	rs7412	45,412,079	APOE	p.Arg176Cys	17.45 (0.48)	2.13 × 10−30
(n = 71)	8	rs36092215	142,367,246	GPR20	p.Arg260Cys	12.12 (0.54)	6.58 × 10−22
	11	rs12364019	5,730,343	TRIM22	p.Arg321Lys	−11.64 (0.79)	1.15 × 10−14
	1	rs16838748	157,508,997	FCRL5	p.Asn427Lys	7.14 (0.68)	8.61 × 10−10
	7	rs12701506	36,566,020	AOAH	c	−2.75 (0.30)	5.69 × 10−8
	19	rs2682585	44,081,288	PINLYP	p.His6Arg	−1.68 (0.21)	1.67 × 10−6
	1	rs62621173	159,021,506	IFI16	p.Ser512Phe	−2.80 (0.37)	8.63 × 10−6
	1	rs10798302	173,987,798	RC3H1	d	1.76 (0.27)	1.86 × 10−4
	7	rs754554	24,758,818	DFNA5	p.Pro142Thr	−1.39 (0.28)	3.62 × 10−2
Sporadic	2	rs35946826	105,859,249	GPR45	p.Leu312fs	−12.67 (0.148)	3.08 × 10−36
(n = 54)	1	rs61742849	114,226,143	MAGI3	p.Gly1318fs	−14.32 (0.199)	4.38 × 10−34
	6	rs675026	154,414,563	OPRM1	p.Ala442fs	5.42 (0.079)	1.15 × 10−33
	10	rs838759	22,498,468	EBLN1	p.Gly149fs	−4.26 (0.092)	3.90 × 10−28
	17	rs61749930	48,594,691	MYCBPAP	p.Arg124fs	−12.08 (0.286)	6.06 × 10−27
	19	rs7250872	1,811,603	ATP8B3	p.Gly45fs	−2.54 (0.088)	9.57 × 10−22
	16	rs749670	31,088,625	ZNF646	p.Lys328fs	−1.52 (0.067)	1.35 × 10−18
	4	rs7677237	89,306,659	HERC6	p.Met123fs	2.14 (0.122)	3.58 × 10−15
	4	rs6835769	79,284,694	FRAS1	p.Ala817fs	−1.11 (0.074)	2.74 × 10−13
	11	rs4757987	5,906,205	OR52E4	p.Arg228fs	1.02 (0.07)	6.86 × 10−13
	20	rs236150	5,903,141	CHGB	p.Lys117fs	−2.14 (0.181)	2.12 × 10−10
	6	rs3130257	33,256,471	WDR46	p.Thr40fs	−2.35 (0.209)	7.92 × 10−10
	18	rs754093	77,246,406	NFATC1	p.Cys751fs	−0.94 (0.094)	1.34 × 10−8
	3	rs34230332	14,725,878	C3orf20	p.Leu84fs	1.59 (0.185)	4.81 × 10−7
	19	rs867228	52,249,211	FPR1	p.Glu346fs	−0.94 (0.115)	1.34 × 10−6
	4	rs3733251	77,192,838	FAM47E	p.Arg166fs	−0.71 (0.127)	2.07 × 10−3
	16	rs2303772	87,795,580	KLHDC4	p.Leu56fs	0.75 (0.135)	2.75 × 10−3
	16	rs739999	319,511	RGS11	p.Met416fs	0.35 (0.075)	3.48 × 10−2
	16	rs34779002	87,782,396	KLHDC4	p.Gly74fs	0.78 (0.172)	4.00 × 10−2
	15	rs6493068	43,170,793	TTBK2	p.Asp9fs	−0.48 (0.107)	4.27 × 10−2
	16	rs17137138	4,606,743	C16orf96	p.Val85fs	1.00 (0.223)	4.40 × 10−2
	7	rs3823646	99,757,612	GAL3ST4	p.Lys468fs	−0.31 (0.069)	4.47 × 10−2
	13	rs17081389	25,487,001	CENPJ	p.Pro55fs	1.00 (0.223)	4.61 × 10−2
	10	rs78334417	75,071,618	TTC18	p.Pro450fs	1.00 (0.223)	4.84 × 10−2
	7	rs186048202	134,678,273	AGBL3	p.Arg52fs	0.61 (0.139)	4.91 × 10−2

^a UCSC GRCh37/hg19 coordinates; ^b Markers can accelerate ($\widehat{\beta }$ < 0) or delay ($\widehat{\beta }$> 0) ADAOO according to their effect; ^c Chromatin state segmentation strong enhancer state-5 from ChiP-seq data; ^d CpG islands, DNaseI hypersensitivity uniform peak from ENCODE/analysis. ADAOO = Alzheimer’s disease age of onset; Chr: chromosome; $\widehat{\beta }$ = Regression coefficient; ${\mathrm{SE}}_{\widehat{\beta }}$ = Standard error of $\widehat{\beta }$; P_FDR = Corrected P-value using the False Discovery Rate (FDR) [78,79].