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Table 2 Association statistics for candidate mutations at recessive loci

From: Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci

Trait

QTL

Chr8_44 Mb

Chr25_24-27 Mb

Chr25_35 Mb

Chr27_15 Mb

Chr28_6-7 Mb

 

Position

g.8.44119667T>A

g.25.24904939C>T

g.25.25161613G>A

g.25.26689392G>A

g.35975573C>T

g.27.15491451C>T

g.28.7922207G>A

rsID

rs483207034

rs453138457

rs471945767

rs1116814780

NA

rs523126258

NA

Candidate gene

DOCK8

IL4R

KIAA0556

ITGAL

LRCH4

SLC25A4

RBM34

VEP

AA substitution

AA substitution

AA substitution

Premature stop

Premature stop

AA substitution

Premature stop

Protein impact

p.His649Leu

p.Pro151Leu

p.Arg158His

p.Trp731*

p.Arg123*

p.Thr197Met

p.Arg55*

SIFT score

0

0.02

0.14

NA

NA

0.01

NA

MAF (HF/J/ALL)

0.013/0.059/0.03

0.001/0.043/0.017

0.001/0.042/0.016

0.002/0.049/0.019

0.034/0.001/0.031

0.046/0.001/0.027

0.044/0.004/0.043

Milk (L/lactation)

a ± sd

− 129.181 ± 23.604

− 218.249 ± 39.988

− 279.656 ± 49.108

− 169.491 ± 37.441

− 153.832 ± 24.201

− 123.607 ± 25.598

− 106.454 ± 17.786

p

4.43E−08

4.82E−08

1.24E−08

5.99E−06

2.05E−10

1.38E−06

2.16E−09

d ± sd

109.644 ± 23.905

215.668 ± 40.648

269.952 ± 49.887

161.062 ± 37.587

97.084 ± 245.537

120.056 ± 25.895

106.246 ± 17.929

p

4.51E−06

1.12E−07

6.26E−08

1.83E−08

7.60E−05

3.55E+06

3.10E−09

k

0.849

0.988

0.965

0.95

0.63

0.971

0.998

Fat (kg/lactation)

a ± sd

− 5.643 ± 1.177

− 11.827 ± 2.109

− 15.569 ± 2.359

− 9.708 ± 1.870

− 6.849 ± 1.137

− 7.075 ± 1.201

− 5.170 ± 0.866

p

1.66E−06

2.05E−08

4.10E−11

2.09E−07

1.71E−09

3.84E−09

2.40E−09

d ± sd

5.110 ± 1.181

11.339 ± 2.087

14.744 ± 2.372

9.022 ± 1.910

4.412 ± 1.133

5.729 ± 1.249

5.546 ± 0.859

p

1.51E−05

5.56E−08

5.08E−10

2.33E−06

9.82E−05

4.48E−06

1.06E−10

k

0.906

0.959

0.947

0.929

0.64

0.809

1.073

Protein (kg/lactation)

a ± sd

− 4.981 ± 0.870

− 9.226 ± 1.616

− 11.885 ± 1.834

− 7.847 ± 1.374

− 5.498 ± 0.838

− 5.008 ± 0.944

− 3.539 ± 0.587

p

1.05E−08

1.12E−08

9.23E−11

1.11E−08

5.49E−11

1.14E−07

1.60E−09

d ± sd

4.308 ± 0.897

9.023 ± 1.631

11.435 ± 1.829

7.497 ± 1.389

4.067 ± 0.844

4.595 ± 0.949

3.695 ± 0.592

p

1.56E−06

3.14E−08

4.02E−10

6.77E−08

1.43E−06

1.30E−06

4.29E−10

k

0.865

0.978

0.962

0.955

0.74

0.917

1.044

  1. Linkage values with top variants are in Additional file 1: Table S1.
  2. VEP: variant effect predictor; NA: not applicable or unknown; AA substitution: amino-acid substitution; a: genotypic additive effect; d: genotypic dominance effect; k: dominance coefficient; sd: standard deviation; p: p-value; MAF: minor allele frequency; HF: Holstein–Friesian; J: Jersey; ALL: all animals