Table 3 12 novel functional rare variant mQTLs

From: Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population

Gene-based burden test

SNP name (c#chr p#position)

rsID

Gene

Metabolite

EA/OA

C-MAF

p-value

 

c4p57221348

rs3796543

AASDH

Thyroxine

C/T

   

c4p57248716

rs34228795

AASDH

Thyroxine

C/G

0.036

4.1 × 10−09

 

c4p57250285

rs34543011

AASDH

Thyroxine

C/T

   

c12p56075599

rs199581976

METTL7B

Androsterone sulfate

T/C

   

c12p56075915

rs75289684

METTL7B

Androsterone sulfate

A/C

0.035

4.78 × 10−09

 

c12p56077768

rs115687886

METTL7B

Androsterone sulfate

T/C

   

Single-variant analysis

SNP name (c#chr p#position)

rsID

Gene

Metabolite

EA/OA

EAF

N

Beta (s.e)

p-value

c12p11506114*

-

PRB1

Mannose

T/G

0.013

576

−1.32(0.192)

5.99 × 10−12

c15p89398112

rs150988100

ACAN

X-12844 (glucuronidated steroid)

A/G

0.006

581

−2.05(0.323)

1.88 × 10−10

c2p26760624

rs56332208

OTOF

Retinol (Vitamin A)

T/C

0.0153

586

−1.18(0.19)

4.83 × 10−10

c15p89398112

rs150988100

ACAN

X-09789

A/G

0.0059

592

−2.25(0.373)

1.56 × 10−09

c18p48256030

-

MAPK4

X-21365 (N-trimethyl 5-aminovalerate)

C/G

0.0161

589

−1.27(0.22)

6.84 × 10−09

c20p18295959

rs377301648

ZNF133

3-methyl-2-oxovalerate

C/T

0.0160

592

−1.15(0.2)

9.36 × 10−09

c11p18158958

rs61733595

MRGPRX3

Tryptophan

T/C

0.0084

592

−1.43(0.25)

1.01 × 10−08

c12p55688833

rs372117452

OR6C6

Androsterone sulfate

G/A

0.012

590

−1.37(0.24)

1.09 × 10−08

c12p56086993

rs144983062

ITGA7

Androsterone sulfate

C/T

0.023

590

−1.02(0.18)

1.25 × 10−08

c18p48256030

-

MAPK4

Tryptophan

G/C

0.016

592

−1.11(0.19)

1.32 × 10−08

  1. EA effective allele, OA observed allele, EAF effective allele frequency, CMAF cumulative minor allele frequency
  2. All SNPs have a call rate of 100% except for the SNP marked (*), which has a call rate of 97%
Back to article page