Table 1 Genetic pre-deposition and variations associated with PCOS along with their cytogenic location

1

Genes involved in steroid hormone effect

1. Androgen receptor gene (AR)

2. Sex hormone-binding globulin gene (SHBG)

Chromosome Xq12

Chromosome 17p13-p12

Urbanek

[20]

2

Genes involved in gonadotropin action and regulation

1. Follicular-stimulating hormone receptor (FSHR)

2. Anti-Müllerian hormone (AMH)

Chromosome 2p16.3

Chromosome 19q13.3

Aesha

–

[22]

–

3

Genes involved in insulin action and secretion

1. Insulin gene (INS)

2. Calcium-dependent Cysteine Protease (CAPN)

Chromosome 11p15.5

Chromosome 2q37.3

Shaaban

Urbanek

[35]

[20]

4

Genes involved in insulin sensitivity and BMI

1. Fat mass obesity (FTO)

2. Tumor necrosis factor (TNF)

Chromosome 16q12.2

–

–

Escobar-Morreale

[39]

5

Genes involved in ovarian steroidogenesis and gametogenesis

1. Leptin

2. Aromatase

 (i) CYP1A1

 (ii) CYP11A1

 (iii) CYP1b2

 (iv) CYP17A1

 (v) CYP21A2

 (vi) CYP3A7

 (vii) CYP19A1

–

Chromosome 2q37.3

Chromosome 15q24.1

Chromosome 8q24.3

Chromosome 10q24.32

Chromosome 6p21.33

Chromosome 7q22.1

Chromosome 15q21.2

Pandey

K Arvind Babu

Cheng-wei zhang

Zhao

Li Li

Settas N

Mark O goodarzi

–

[47]

[53]

[56]

[58]

[61]

[65]

[67]

6

Genes involved in chronic inflammation

1. Plasminogen activator inhibitor-1 (PAI-1)

2. Interleukin 6 (IL-6)

3. Transforming growth factor-beta (TGF)

Chromosome 7 (7q21. 3-q22)

–

–

Diamanti-Kandarkis

Senn

J. Yang

[75]

[78]

[90]