Table 2 Association statistics for top sex-specific AD associated variants with pjoint <= 5e-06 and pinter <= 5e-07.

From: Identification of Novel Alzheimer’s Disease Loci Using Sex-Specific Family-Based Association Analysis of Whole-Genome Sequence Data

Chro-mo-some

Position (GRCh37)

Rs ID

A1 (effect)

A2 (other)

Effect allele fre-quency (NIMH + NIA)

Effect allele fre-quency (NIMH only)

Effect allele fre-quency (NIA only)

Nearest gene

Qua-lity in TOP-Med

has pseud-ogene on X or Y

Chi-square statistic (FBAT GEE)

P-value (FBAT GEE)

Number of infor-mative families

Z score (sex-spec-ific)

P-value (sex-specific)

Effect allele fre-quency in affected males (NIMH +  NIA cohort)

Effect allele fre-quency in affected females (NIMH + NIA cohort)

Effect allele fre-quency in affected males (ADNI cohort)

Effect allele fre-quency in affected females (ADNI cohort)

10

88138165

rs1008912

C

T

0.082

0.085

0.077

GRID1

PASS

FALSE

44.657

2.01E-10

108

−6.608

3.97E-11

0.133

0.059

0.046

0.048

18

21048308

rs181239893

A

C

0.006

0.009

0.001

RIOK3

PASS

FALSE

27.891

8.78E-07

20

−5.263

1.42E-07

0.021

0.000

0.002

0.005

8

5824905

rs13259125

T

C

0.301

0.306

0.293

MCPH1

PASS

FALSE

27.662

9.84E-07

207

−5.252

1.50E-07

0.340

0.284

0.303

0.330

18

45866243

rs1944572

T

C

0.378

0.363

0.404

ZBTB7C

PASS

FALSE

27.45

1.09E-06

230

5.216

1.83E-07

0.342

0.394

0.358

0.388

  1. Allele frequencies in affected males and females are reported in the combined NIMH + NIA cohort and, additionally, in an independent ADNI WGS cohort with unrelated subjects.