Table 1 Top BMD SNPs associated with PBC status in combined analysis of WTCCC GWAS data and Italian GWAS data at Pfdr <0.05.

From: A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density

SNP

Chr.

Position (hg19)

Nearby Gene

Effect on BMD

PBC RA

WTCCC data

Italian data

Combined analysis

OR (95% CI)

P

OR (95% CI)

P

OR

P

P fdr

rs9533090

13

42951449

TNFSF11

T↓spine, LSBMD

T

1.21 (1.11–1.31)

9.32E-06

1.20 (1.01–1.42)

0.043

1.20 (1.12–1.30)

1.15E-06

4.14E-05

rs1864325

17

43977827

MAPT

T↓LSBMD

T

1.25 (1.13–1.38)

1.03E-05

1.34 (1.09–1.65)

0.0052

1.27 (1.16–1.39)

2.19E-07

1.58E-05

rs170183

21

37848334

CLDN14

A↓hip, FNK

A

1.12 (1.03–1.22)

0.0068

1.23 (1.03–1.46)

0.023

1.14 (1.06–1.23)

6.25E-04

0.015

  1. The association tests were performed using logistic regression adjusted for principal components and sex.
  2. ↓, decreasing effects on BMD level.
  3. Pfdr, false discovery rate adjusted P value based on 72 SNPs in supplementary table 1.
  4. Chr., chromosome; RA, risk allele; OR, odds ratio.