Genotype | Sperm concentration [mln/mL] | Sperm motility [%] | Sperm morphology [%] | HOS [%] | Oocytes fertilized in conventional IVF [%] | Oocytes fertilized in ICSI [%] |
---|---|---|---|---|---|---|
PvuII | p = 0.36 |
p = 0.6 |
p = 0.9 |
p = 0.54 |
p = 0.16 |
p = 0.75 |
TT | ||||||
TC | ||||||
CC | ||||||
XbaI | p = 0.31 |
p = 0.71 |
p = 0.33 |
p = 0.78 |
p = 0.73 |
p = 0.97 |
AA | ||||||
AG | ||||||
GG | ||||||
AluI | p = 0.94 |
p = 0.88 |
p = 0.69 |
p = 0.72 |
p = 0.25 |
p = 0.97 |
AA | ||||||
AG | ||||||
GG | ||||||
RsaI | p = 0.32 |
p = 0.71 |
p = 0.21 |
p = 0.47 |
p = 0.53 |
p = 0.67 |
GG | ||||||
GA | ||||||
AlwNI | p = 0.1 |
p = 0.12 |
p = 0.31 |
p = 0.4 |
p = 0.79 |
p = 0.86 |
CC | ||||||
CT | ||||||
TT |
Primer’s name | Sequence 5′ 3′ | Annealing temperature | Amplicon length |
---|---|---|---|
ESR1_rs9340799_XbaI_F |
CTGCCACCCTATCTGTATCTTTTCCTATTCTCC | 71°C | 1374 bp |
ESR1_rs9340799_XbaI_R |
TCTTTCTCTGCCACCCTGGCGTCGATTATCTGA | ||
ESR2_rs4986938_AluI_F | GTGTGTGGTGGGACACAGAG | 65°C | 646 bp |
ESR2_rs4986938_AluI_R | AGGCCATTGAGTGTGGAAAC | ||
ESR2_rs1256049_RsaI_F | TTCTGAGCCGAGGTCGTAGT | 66°C | 582 bp |
ESR2_rs1256049_RsaI_R | TGAATCCTTGGACCCAACTC | ||
ESR2_rs1256120_AlwNI_F | GACTTTGTCACACACCTGCG | 68°C | 620 bp |
ESR2_rs1256120_AlwNI_R | AAACAGGCCACCGTCAGAAA |
Reference SNP ID number (rs#) | dbSNP ( |
|
Polymorphism biotype | rs2234693, rs9340799 – intron variant |
dbSNP ( |
Minor allele frequency (MAF) | rs2234693 C = 0.46781/125568, TOPMED |
dbSNP ( |
P value | 0.02 | Research |
Odds ratio (OR) | n/a | Research |
Method / platform - details | PCR-RFLP | Research |
Repeat unit | Not applicable | Research |
Number of repeats | Not applicable | Research |
Gene regulation | Not applicable | Research |
MicroRNA (miRBase ID) | Not applicable | Sanger miRBase ( |
Disease comorbidity, associated syndrome | Not applicable | Research |
CNV type | Not applicable | Research |
Overlapping gene | Not applicable | Research |
Epigenetic mechanism | Not applicable | Research |
Chromosomal aberration | Not applicable | Research |
Mean ± SD | Median | Mean ± SD | Median | p | |
---|---|---|---|---|---|
Concentration [mln/mL] | 39±16 | 40 | 18±18 | 13 | <0.0001a |
Progressive motility [%] | 25±9 | 21 | 14±10 | 12 | <0.0001a |
Correct morphology [%] | 5±2 | 5 | 3±2 | 3 | <0.0001a |
HOS [%] | 62±11 | 63 | 48±19 | 50 | <0.0001b |
Restriction site | XbaI PvuII | AluI | RsaI | AlwNI | Cycles no. |
---|---|---|---|---|---|
Initial denaturation | 95°C, 5 min | 95°C, 5 min | 95°C, 5 min | 95°C, 5 min | 1 |
Denaturation | 95°C, 20 s | 98°C, 20 s | 98°C, 20 s | 98°C, 20 s | 30 |
Annealing | 71°C, 15 s | 65°C, 15 s | 66°C, 15 s | 68°C, 15 s | |
Elongation | 72°C, 15 s | 72°C, 15 s | 72°C, 15 s | 72°C, 15 s | |
Final elongation | 72°C, 3 min | 72°C, 1 min | 72°C, 1 min | 72°C, 1 min | 1 |
Enzyme | Restriction site | Allele | Product length |
---|---|---|---|
ESR1_rs9340799_XbaI | T |
T |
981bp + 393bp |
TCTGGA | 1374 bp | ||
ESR1_rs2234693_PvuII | CAG |
CAG |
936bp + 438 bp |
CAGCCG | 1374 bp | ||
ESR2_rs4986938_AluI | AG |
AG |
445 bp + 201 bp |
GGCT | 646 bp | ||
ESR2_rs1256049_RsaI | GT |
GT |
293 bp + 289 bp |
GTGC | 582 bp | ||
ESR2_rs1256120_AlwNI | CAGNNN |
CAGNNN |
158 bp + 462 bp |
CAGNNNCCG | 620 bp |
Genotype | Sperm concentration | P | Sperm progressive motility | P | Sperm morphology | P | HOS | P | Normozoospermia | P | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
< 15 mln/mL | ≥ 15 mln/mL | < 32% | ≥ 32% | < 4% | ≥ 4% | < 58% | ≥ 58% | yes | no | ||||||
TT | 11 (31%) | 13 (19%) | 0.4 |
19 (25%) | 5 (20%) | 0.83 |
8 (24%) | 16 (23%) | 0.98 |
12 (22%) | 12 (25%) | 0.33 |
5 (22%) | 19 (24%) | 0.82 |
TC | 16 (46%) | 36 (54%) | 38 (49%) | 14 (56%) | 17 (52%) | 35 (51%) | 25 (46%) | 27 (56%) | 13 (56%) | 39 (49%) | |||||
CC | 8 (23%) | 18 (27%) | 20 (26%) | 6 (24%) | 8 (24%) | 18 (26%) | 17 (32%) | 9 (19%) | 5 (22%) | 21 (27%) | |||||
Power |
0.65 | 0.24 | 0.07 | 0.72 | 0.25 | ||||||||||
T | 38 (54%) | 62 (46%) | 0.28 |
76 (49%) | 24 (48%) | 0.87 |
33 (50%) | 67 (49%) | 0.85 |
49 (45%) | 51 (53%) | 0.27 |
23 (50%) | 77 (49%) | 0.85 |
C | 32 (46%) | 72 (54%) | 78 (51%) | 26 (52%) | 33 (50%) | 71 (51%) | 59 (55%) | 45 (47%) | 23 (50%) | 82 (51%) | |||||
Power |
0.63 | 0.06 | 0.06 | 0.63 | 0.06 | ||||||||||
AA | 7 (20%) | 11 (16%) | 0.81 |
15 (19%) | 3 (12%) | 046 |
7 (21%) | 11 (16%) | 0.51 |
11 (20%) | 7 (15%) | 0.75 |
2 (9%) | 16 (20%) | 0.22 |
AG | 14 (40%) | 31 (46%) | 35 (46%) | 10 (40%) | 16 (49%) | 29 (42%) | 23 (53%) | 22 (46%) | 9 (39%) | 36 (46%) | |||||
GG | 14 (40%) | 25 (38%) | 27 (35%) | 12 (48%) | 10 (30%) | 29 (42%) | 20 (27%) | 19 (39%) | 12 (52%) | 27 (34%) | |||||
Power |
0.21 | 0.74 | 0.66 | 0.70 | 0.99 | ||||||||||
A | 28 (40%) | 53 (40%) | 0.95 |
65 (42%) | 16 (32%) | 0.2 |
30 (46%) | 51 (37%) | 0 25 |
45 (35%) | 36 (38%) | 0.54 |
13 (28%) | 68 (43%) | 0.07 |
G | 42 (60%) | 81 (60%) | 89 (58%) | 34 (68%) | 36 (64%) | 87 (63%) | 63 (65%) | 60 (62%) | 33 (72%) | 90 (57%) | |||||
Power |
0.05 | 0.82 | 0.73 | 0.06 | 0.99 | ||||||||||
AA | 3 (10%) | 5 (8%) | 1 |
6 (8%) | 2 (10%) | 0.49 |
2 (6%) | 6 (10%) | 0.54 |
5 (10%) | 3 (6%) | 0.78 |
2 (11%) | 6 (8%) | 0.21 |
AG | 13 (42%) | 26 (43%) | 28 (40%) | 11 (52%) | 11 (36%) | 28 (46%) | 19 (39%) | 20 (47%) | 11 (58%) | 28 (38%) | |||||
GG | 15 (48%) | 30 (49%) | 37 (52%) | 8 (38%) | 18 (58%) | 27 (44%) | 25 (51%) | 20 (47%) | 6 (31%) | 39 (54%) | |||||
Power |
0.08 | 0.67 | 0.72 | 0.35 | 0.72 | ||||||||||
A | 19 (31%) | 36 (30%) | 0.87 |
40 (28%) | 15 (36%) | 0.35 |
15 (24%) | 40 (33%) | 0.23 |
29 (30%) | 26 (30%) | 0.92 |
15 (39%) | 40 (27%) | 0.15 |
G | 43 (69%) | 86 (70%) | 102 (72%) | 27 (64%) | 47 (76%) | 82 (67%) | 69 (70%) | 60 (70%) | 23 (61%) | 106 (73%) | |||||
Power |
0.06 | 0.68 | 0.82 | 0.05 | 0.92 | ||||||||||
GG | 26 (84%) | 53 (95%) | 0.13 |
60 (90%) | 19 (95%) | 0.68 |
23 (82%) | 56 (95%) | 0.11 |
40 (87%) | 39 (95%) | 0.27 |
17 (94%) | 62 (90%) | 1 |
GA | 5 (16%) | 3 (5%) | 7 (10%) | l (5%) | 5 (18 %) | 3 (5%) | 6 (13%) | 2 (5%) | 1 (6%) | 7 (10%) | |||||
Power |
0.8 | 0.34 | 0.88 | 0.6 | 0.34 | ||||||||||
G | 57 (92%) | 109 (97%) | 0.14 |
127 (95%) | 39 (98%) | 0.68 |
51 (91%) | 115 (97%) | 0.11 |
86 (93%) | 80 (98%) | 0.28 |
35 (97%) | 131 (95%) | 1 |
A | 5 (8%) | 3 (3%) | 7 (5%) | 1 (2%) | 5 (9%) | 3 (3%) | 6 (7%) | 2 (2%) | 1 (3%) | 7 (5%) | |||||
Power |
0.68 | 0.44 | 0.79 | 0.73 | 0.34 | ||||||||||
AA | 0 | 4 (7%) | 0.21 |
2 (3%) | 2 (9%) | 0.36 |
0 | 4 (6%) | 0.06 |
1 (2%) | 3 (7%) | 0.39 |
2 (10%) | 2 (3%) | 0.23 |
AT | 13 (36%) | 15 (25%) | 23 (31%) | 5 (23%) | 14 (42%) | 14 (22%) | 17 (32%) | 11 (26%) | 4 (20%) | 24 (31%) | |||||
TT | 23 (64%) | 41 (68%) | 49 (66%) | 15 (68%) | 19 (58%) | 45 (72%) | 35 (66%) | 29 (67%) | 14 (70%) | 50 (66%) | |||||
Power |
0.99 | 0.92 | 0.99 | 0.91 | 0.84 | ||||||||||
A | 13 (18%) | 23 (19%) | 0.84 |
25 (17%) | 7 (16%) | 0.94 |
14 (21%) | 22 (17%) | 0.53 |
19 (18%) | 17 (20%) | 0.75 |
8 (20%) | 28 (18%) | 0.82 |
T | 59 (82%) | 97 (81%) | 121 (83%) | 35 (84%) | 52 (79%) | 104 (83%) | 87 (82%) | 69 (80%) | 32 (80%) | 124 (82%) | |||||
Power |
0.07 | 0.07 | 0.27 | 0.11 | 0.11 |
Locus information | Locus biotype/sequence feature/sequence variant | Single nucleotide polymorphism (SNP) | The Sequence ontology ( |
Sequence ontology accession | SO:0001969, SO:0002153, SO:0001580, SO:0001624 | The Sequence ontology ( |
|
Locus name / gene symbol | HGNC ( |
||
Gene name | Estrogen receptor 1 |
HGNC ( |
|
Entrez Gene ID | 2099 ( |
Entrez ( |
|
Chromosome number | 6 ( |
Ensembl ( |
|
Genomic coordinate of the polymorphism, locus | Chromosome # 6q25.1-q25.2 (ESR1) |
dbSNP ( |
|
Subjects | Race / ethnicity | Caucasian, Polish | Research |
Number of participants (infertile/controls) - include sex in each group I(M/F) C(M/F) | Total study population N= 116 |
Research | |
Methodology | PCR followed by restriction length fragment polymorphism (PCR-RFLP) | Research | |
Phenotype information | Clinical data | Male patients: exclusion criteria: azoospermia, hypogonadotropic hypogonadism; erectile disorders. inclusion criteria: sperm samples provided in the process of masturbation. |
Research |
Disease ontology | 5223 | Disease Ontology ( |
|
Disease comorbidity | Not available | Research | |
PubMed ID (in review papers) | No review paper referenced in the paper | Research | |
Reference | Reference (in review papers) | No review paper referenced in the paper | Research |
Genotype | Conventional IVF | Fertilization completed | No fertilization | p | ICSI | Fertilization completed | No fertilization | p |
---|---|---|---|---|---|---|---|---|
TT | 6 (17%) | 6 (21%) | 0 | 0.02c | 18 (27%) | 16 (26%) | 2 (40%) | 0.84 |
TC | 20 (55%) | 18 (62%) | 2 (29%) | 32 (48%) | 30 (50%) | 2 (40%) | ||
CC | 10 (28%) | 5 (17%) | 5 (71%) | 16 (24%) | 15 (24%) | 1 (20%) | ||
Power |
0.99 | 0.64 | ||||||
T | 32 (44%) | 30 (52%) | 2 (36%) | 0.02b | 68 (52%) | 62 (51%) | 6 (60%) | 0.75 |
C | 40 (56%) | 28 (48%) | 12 (64%) | 64 (48%) | 60 (49%) | 4 (40%) | ||
Power |
0.77 | 0.06 | ||||||
AA | 4 (12%) | 3 (10%) | 1 (14%) | 0.61a | 14 (21%) | 13 (21%) | 1 (20%) | 0.16 |
AG | 16 (44%) | 14 (49%) | 2 (29%) | 29 (44%) | 27 (45%) | 2 (40%) | ||
GG | 16 (44%) | 12 (41%) | 4 (57%) | 23 (35%) | 21 (34%) | 2 (40%) | ||
Power |
0.57 | 0.14 | ||||||
A | 24 (33%) | 20 (34%) | 4 (29%) | 0.76b | 57 (43%) | 53 (43%) | 4 (40%) | 1 |
G | 48 (67%) | 38 (66%) | 10 (71%) | 75 (57%) | 69 (57%) | 6 (60%) | ||
Power |
0.14 | 0.06 | ||||||
AA | 2 (6%) | 1 (4%) | 1 (14%) | 0.64a | 6 (10%) | 5 (9%) | 1 (20%) | 0.63 |
AG | 14 (45%) | 11 (46%) | 3 (43%) | 25 (41%) | 23 (41%) | 2 (40%) | ||
GG | 15 (49%) | 12 (50%) | 3 (43%) | 30 (49%) | 28 (50%) | 2 (40%) | ||
Power |
0.72 | 0.79 | ||||||
A | 18 (29%) | 13 (27%) | 5 (36%) | 0.52b | 37 (30%) | 33 (29%) | 4 (40%) | 0.48 |
G | 44 (71%) | 35 (73%) | 9 (64%) | 85 (70%) | 79 (71%) | 6 (60%) | ||
Power |
0.36 | 0.76 | ||||||
- | ||||||||
GG | 24 (80%) | 23 (79%) | 1 (100%) | - | 53 (93%) | 46 (92%) | 7 (100%) | |
GA | 6 (20%) | 6 (21%) | 0 | 4 (7%) | 4 (8%) | 0 | ||
Power |
- | - | ||||||
G | 54 (90%) | 52 (90%) | 2 (100%) | - | 110 (96%) | 96 (96%) | 14 (100%) | - |
A | 6 (10%) | 6 (10%) | 0 | 4 (4%) | 4 (4%) | 0 | ||
Power |
- | - | ||||||
CC | 2 (13%) | 2 (8%) | 0 | 1c | 2 (3%) | 2 (3%) | 0 | 0.28 |
CT | 5 (17%) | 4 (17%) | 1 (17%) | 23 (35%) | 23 (38%) | 0 | ||
TT | 23 (70%) | 18 (75%) | 5 (83%) | 41 (62%) | 36 (59%) | 5 (100%) | ||
Power |
0.29 | 0.99 | ||||||
C | 9 (15%) | 8 (17%) | 1 (8%) | 0.67b | 27 (20%) | 27 (22%) | 0 | - |
T | 51 (85%) | 40 (83%) | 11 (92%) | 105 (80%) | 95 (78%) | 10 (100%) | ||
Power |
0.46 | - |