Table 2 Genetic Variants Associated with POI

Follicle Development

NOBOX

Caucasian, Senegalese, Bantu [81]

Caucasian,

African [82]

178 women diagnosed with idiopathic POI and 362 ethnic-matched women control [81]

213 women diagnosed with idiopathic POI and 362 ethnic-matched women control [82]

6.2% in POI group

0% in control group [81]

7% in POI group

0% in control group [82]

[81, 82]

FIGLA

Chinese

100 women diagnosed with POI and 304 healthy women between 30 and 62 years old with regular menses and no history of infertility as control

4% in POI group

0.3% in control group

[83]

BNC1

Chinese

82 women diagnosed with POI and 332 healthy female control

4% in POI group

0% in control group

[84]

SOHLH1

China, Serbia

364 Chinese women and 197 Serbian women diagnosed with POI

400 Chinese and 200 Serbian women with regular menses and normal FSH level as control

2.2% in Chinese POI group

0.9% in Chinese control group

0% in Serbian POI group

0% in Serbian control group

[85]

SOHLH2

China, Serbia

364 Chinese women and 197 Serbian women diagnosed with POI;

222 Chinese and 200 Serbian women with normal menses and normal FSH level as control

2.2% Chinese POI group

0% in Chinese control group

2% in Serbian POI group

0% in Serbian control group

[86]

FOXO3A/FOXO1A

China,

New Zealand, Slovenia

114 Chinese patients diagnosed with POI and 100 control subjects under the age of 40 with proven fertility, normal menstrual cycle and ovarian morphology [87]

30 patients from New Zealand and 60 patients from Slovenia diagnosed with POI and 60 healthy control subjects [69]

13% in POI group (FOXO3)

0% in control group (FOXO3) [87]

2.2% in POI group (FOXO3A)

0% in control group (FOXO3A)

1.1% in POI group (FOXO1A)

0% in control group (FOXO1A) [69]

[69, 87]

Follicle Development

BMP15

US (Caucasian)

166 Caucasian women diagnosed with POI and 211 controls (95 women with menopause beyond 50 years of age, 86 women and 30 men from the general population)

2.1% in POI group

0% in control

[88]

KHDRBS1

(or Sam68)

Chinese

215 women diagnosed with POI and 400 women over age of 40 not diagnosed with POI with a history of regular menstrual cycle

0.04% in POI group

0% in control group

[89]

FMR1

Premutation (55–200 CGG repeats)

Unknown

UK

254 women presented with POI and 1915 controls selected either as postmenopausal at entry with a menopausal age of 46 years or older (74.3%) or premenopausal and entered the study at 46 years or older (25.7%)

2% in POI group

0.4% in control group

[90]

DNA

Damage Repair

BRCA1

UK

2028 women diagnosed with breast cancer before age of 55 between 1991 and 1996

prevalence calculated based on a mathematical model

1.2% in cancer group;

0.09% in general population

[91]

MCM8/9

US

155 women diagnosed with POI

Control group data from public database such as exome variant server

2% in POI group (MCM8)

0% in control group (MCM8)

5% in POI group (MCM9)

0% in control group (MCM9)

[92]

FANCM

Chinese

200 patients diagnosed with POI and 200 age-matched women with regular menses an normal FSH level as control

0.4% in POI group

0% in control group

[93]

Apoptosis Regulation

NANOS3

Chinese, Caucasian, Brazilian

80 Chinese women and 88 Caucasian women diagnosed with POI and 63 healthy Chinese and 63 healthy Caucasian control subjects [94]

30 Brazilian women diagnosed with POI and 185 women with normal fertility as control [95]

0.14% in Chinese POI group

0.09% in Chinese control group

0.09% in Caucasian POI group

0.03% in Caucasian control group [94]

0% in POI group

0% in control group [95]

[94, 95]

PGRMC1

China

196 nulligravida women diagnosed with POI without family history of POI or X chromosome abnormalities and 200 healthy women with regular menstrual cycle and no known history of infertility before age of 40 years

0.51% in POI group

0% in control group

[96]

HFM1

Meiosis

Chinese

69 women diagnosed with POI and 316 controls matched for ethnic background, sex and age

2.9% in POI group

0% in control group

[97]