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Table 2 Examples of gene loci associated with T2DM, Hypothyroidism and related traits

From: Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank

Gene locus

Full gene name

SNP

Associated phenotype

Odds ratio (95% CI)

p-value

Reference

PPARG

Peroxisome proliferator-activated receptor gamma

rs1801282

T2DM

1.14 (1.08-1.20)

1.7 × 10-6

Scott et al[44].

KCNJ11

Potassium inwardly rectifying channel, subfamily J, member 11

rs5219

T2DM

1.14 (1.10-1.19)

6.7 × 10-11

Scott et al[44].

TCF7L2

Transcription factor 7-like 2

rs7903146

T2DM, glucose, HbA1c

1.37 (1.31-1.43)

1.0 × 10-8

Sladek et al[45].

  

rs12255372

    

SLC30A8

Solute carrier family 30 [zinc transporter], member 30

rs13266634

T2DM, HbA1c

1.12 (1.07-1.16)

5.3 × 10-8

Zeggini et al[46].

FTO

Fat mass and obesity associated

rs8050136

T2DM, BMI

1.17 (1.12-1.22)

1.3 × 10-12

Scott et al[44].

FOXE1

Forkhead box protein E1

rs965513

Thyroid cancer, TSH levels

1.75 (1.49-2.01)

1.7 × 10-27

Gudmundsson et al[18].

FOXE1

Forkhead box protein E1

rs7850258

Hypothyroidism

0.74 (0.67-0.82)

3.96 × 10-9

Denny et al[47].

PTPN22

Protein tyrosine phosphatase, non-receptor type 22

rs2476601

Hashimoto’s thyroiditis

1.77 (1.31-2.40)

4.6 × 10-13

Criswell et al[20].

VAV3

Guanine nucleotide exchange factor

rs4915077

Hypothyroidism

1.397 (1.27-1.54)

8.3 × 10-11

Eriksson et al[48].