Table 2 New genes achieving exome-wide significance in URV burden analyses

From: Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

 

Discovery

Replication

Meta-analysis

Gene

Filtering strategy

No. of case carriers (frequency)

No. of control carriers (frequency)

OR (95% CI)

P

No. of case carriers (frequency)

No. of control carriers (frequency)

OR (95% CI)

P

P

KIF4A

Moderate-impact/singletons only

22 (1.68 × 10−3)

27 (3.90 × 10−4)

4.69 (2.61–8.33)

1.62 × 10−6

2 (4.21 × 10−4)

52 (4.01 × 10−4)

2.74 (0.538–8.59)

8.75 × 10−1

2.44 × 10−6

TTC3

Moderate-impact/ultrarare

152 (1.17 × 10−2)

380 (5.53 × 10−3)

1.73 (1.42–2.10)

4.16 × 10−7

44 (9.21 × 10−3)

938 (7.28 × 10−3)

0.812 (0.568–1.13)

3.90 × 10−2

5.62 × 10−4

UNC13C

Moderate-impact/ultrarare

200 (1.56 × 10−2)

585 (8.61 × 10−3)

1.59 (1.35–1.87)

2.80 × 10−7

58 (1.21 × 10−2)

1,075 (8.30 × 10−3)

0.750 (0.540–1.02)

1.90 × 10−1

8.62 × 10−4

  1. Listed are new genes that reached significance (P < 2.89 × 10−6) in the URV burden analyses. Test statistics are shown for the discovery phase (ncases = 13,138; ncontrols = 69,775), replication phase (ncases = 4,781; ncontrols = 130,928) and the combined meta-analysis (Stouffer’s Z-score method, weighted by effective sample size). Carrier frequencies, ORs and CIs estimated using Firth’s logistic regression with profile penalized likelihood confidence intervals are presented for the most significant of the four variant filtering strategies. P values are two-tailed, uncorrected for multiple testing, and estimated using the ACAT omnibus test combining the four variant filtering strategies.
Back to article page