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Table 3 Top SNPs under “XCI-robust” approach

From: Statistical methods for testing X chromosome variant associations: application to sex-specific characteristics of bipolar disorder

      

XCI-informed

XCI-robust

Phenotype

SNP

Alleles (min/maj)

Nearest gene

Cohort

MAF

Chosen XCI status

ORM

ORW1

ORW2

P

ORM

ORW1

ORW2

P

Case status

rs5932307

A/G

ACTRT1

Mayo

0.08

S

1.59 (1.04–2.43)

1.26 (1.02–1.56)

1.59 (1.04–2.43)

0.03

1.39 (0.82–2.36)

1.42 (1.00–2.02)

2.02 (1.00–4.08)

0.06

GAIN

0.07

S

1.60 (1.12–2.30)

1.27 (1.06–1.52)

1.60 (1.12–2.30)

0.01

1.01 (0.67–1.50)

3.54 (2.20–5.69)

12.52 (4.85–32.34)

6.5E−08

Meta

 

S

1.60 (1.21–2.10)

1.26 (1.10–1.45)

1.60 (1.21–2.10)

8.2E−04

1.13 (0.82–1.56)

1.96 (1.48−2.60)

3.86 (2.19–6.78)

8.3E−08

Rapid cycling

rs5933727

G/C

TBL1X

Mayo

0.07

E*

1.91 (1.19–3.06)

1.91 (1.19–3.06)

3.65 (1.42–9.38)

0.01

1.31 (0.56–3.07)

2.25 (1.26–4.02)

5.08 (1.60–16.18)

0.01

GAIN

0.08

E*

0.38 (0.23–0.62)

0.38 (0.23–0.62)

0.15 (0.05–0.39)

1.2E−04

0.76 (0.34–1.71)

0.27 (0.14–0.51)

0.07 (0.02–0.26)

3.1E−05

Meta

 

E*

0.77 (0.55–1.08)

0.77 (0.55–1.08)

0.60 (0.30–1.18)

0.14

0.99 (0.55–1.77)

0.86 (0.56–1.31)

0.73 (0.31–1.73)

6.2E−06

Suicide attempt

rs5975146

A/G

XPNPEP2

Mayo

0.12

S

0.47 (0.25–0.85)

0.68 (0.50–0.92)

0.47 (0.25–0.85)

0.01

0.10 (0.02–0.45)

0.99 (0.67–1.46)

0.98 (0.44–2.15)

6.2E−04

GAIN

0.11

S

1.77 (1.09–2.87)

1.33 (1.04–1.69)

1.77 (1.09–2.87)

0.02

1.07 (0.58–1.99)

2.15 (1.39–3.32)

4.63 (1.94–11.05)

1.7E−03

Meta

 

S

1.05 (0.72–1.53)

1.02 (0.85–1.24)

1.05 (0.72–1.53)

0.80

0.76 (0.43–1.33)

1.40 (1.05–1.88)

1.97 (1.10–3.53)

1.5E−05

Binge eating

rs6627188

A/C

CNGA2

Mayo

0.14

S

0.17 (0.08–0.39)

0.41 (0.28–0.62)

0.17 (0.08–0.39)

2.0E−05

0.06 (0.01–0.50)

0.48 (0.30–0.78)

0.23 (0.09–0.61)

4.0E−06

GAIN

0.13

S

1.65 (0.86–3.14)

1.28 (0.93–1.77)

1.65 (0.86–3.14)

0.13

2.00 (0.76–5.27)

1.21 (0.78–1.86)

1.45 (0.61–3.46)

0.31

Meta

 

S

0.68 (0.41–1.13)

0.83 (0.64–1.06)

0.68 (0.41–1.13)

0.14

1.08 (0.45–2.60)

0.80 (0.58–1.11)

0.64 (0.34–1.23)

1.8E−05

Alcohol use disorder

rs145649722

G/C

CLCN5

Mayo

0.04

S

0.78 (0.28–2.15)

0.88 (0.53–1.47)

0.78 (0.28–2.15)

0.63

0.73 (0.16–3.29)

0.92 (0.46–1.83)

0.84 (0.21–3.36)

0.88

GAIN

0.05

S

2.60 (1.24–5.47)

1.61 (1.11–2.34)

2.60 (1.24–5.47)

0.01

8.29 (2.50–27.51)

0.58 (0.29–1.18)

0.34 (0.08–1.39)

4.1E−05

Meta

 

S

1.68 (0.92–3.05)

1.30 (0.96–1.75)

1.68 (0.92–3.05)

0.09

3.20 (1.26–8.15)

0.74 (0.45–1.21)

0.55 (0.21–1.47)

4.1E−04

  1. Odds ratios associated with an increase of one minor allele copy in men (ORM) or women (ORW1) or an increase of two copies in women (ORW2) are reported for two different analysis approaches. The XCI-informed approach employed a sex-adjusted logistic regression model (Eq. 1), but coded the SNP variable differently dependent on presumed XCI status (listed in the “Chosen XCI status” column). SNPs were assigned a status of subject (S) or escaping from inactivation, based on prior work on which regions of the X chromosome experience inactivation. For SNPs in regions of unknown XCI status (entries with asterisk in the “Chosen XCI status” column), presumed XCI status was determined by fitting the model using both the PLINK and Clayton coding schemes and using Akaike information criterion to select the more appropriate model. The XCI-robust approach employed a sex-adjusted logistic regression model with a SNP-sex interaction term (Eq. 2). The significance of the SNP and SNP-sex terms in the model was assessed by a χ2 test with two degrees-of-freedom (2df)
  2. Italics denote the results of the meta-analysis