Table 1 Variants associated with lipid and cardiovascular phenotypes

From: Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree

Gene

Variant

rsID

Effect

% Unaffected

% BPI/BPII

% Other psychiatric phenotype

APOB

Arg3527Gln

rs5742904

Damaging lipid variant

12.6

21.3

10.3

ABCG8

Gly574Arg

rs137852988

Damaging lipid variant

5.7

11.3

12.3

HFE

Cys282Tyr

rs1800562

Iron overload

8.9

15.0

8.8

CYBRD1

Arg226His

rs62181680

Iron overload

1.2

3.8

4.4

LPA

c.4289+1G>A

rs41272114

Cardioprotective

5.3

3.8

1.5

APOC3

Arg19Ter

rs76353203

Cardioprotective

3.3

2.5

1.5

KCNH2

Gly803Arg

rs199473669

Damaging variant affecting heart rhythm

11.0

11.3

5.9

SCN5A

Glu462Lys

rs199473572

Damaging variant affecting heart rhythm

2.8

1.3

0

SNTA1

Ala257Gly

rs56157422

Damaging variant affecting heart rhythm

1.2

1.3

0

  1. Damaging variants associated with lipid phenotypes are found at a higher frequency in individuals with BD, including the G574R mutation in ABCG8 associated with hyperabsorption and sisterolemia, and the R3527Q mutation in APOB. In addition to the heterozygotes detected, three homozygotes for the R3527Q mutation were found within the same nuclear family. Protective lipid variants are found at a lower frequency in BD individuals, including a variant in LPA associated with a reduction in thermogenic lipoprotein. Variants associated with heart rhythm (in KCNH2, SCN5A, and SNTA1) show no allele frequency difference between affected and unaffected individuals
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