Investigation of variants in estrogen receptor genes and perinatal depression

Figures & data

Table 1 Demographic characteristics of controls and cases

Variable	Controls (%)	Cases (%)	χ^2	p-value
Education	n=554	n=159
Primary or below	8 (1.4)	5 (3.1)	6.337	0.096
Secondary	146 (26.4)	33 (20.8)
University/polytechnic	361 (65.2)	103 (64.8)
Postgraduate	39 (7.0)	18 (11.3)
Housing type	n=553	n=159
Public renting	26 (4.7)	7 (4.4)	13.124	0.004
Public own	473 (85.5)	120 (75.5)
Private apartment	36 (6.5)	19 (11.9)
Private landed	18 (3.3)	13 (8.2)
Occupation	n=554	n=159
Not employed	164 (29.6)	53 (33.3)	5.166	0.396
Self-employed	9 (1.6)	5 (3.1)
Professional	186 (33.6)	49 (30.8)
Management	29 (5.2)	14 (8.8)
Service/sales	71 (12.8)	14 (8.8)
Others	95 (17.1)	12 (7.5)

Figure 1 Genomic structure and approximate locations of the variants investigated through case–control analysis or identified from resequencing of (A) ESR1 and (B) ESR2.

Abbreviations: UTR, untranslated region; ESR1, estrogen receptor α; ESR2, estrogen receptor β.

Table 2A ESR1 variants detected by sequencing and allelic frequencies

SNP ID	Variation	Location	Amino acid change	MAFa	MAFb
rs2077647	T>C	Exon 1	Ser10Ser	0.313	0.378
rs17847065	C>A	Exon 1	Pro146Gln	0.018	0.023
(c.452+111G>C)	C>G	Intron 1	–	0.009	–
rs111825996	InsGGAG	Intron 1	–	0.304	0.297
rs58440257	InsGGAG	Intron 1	–	0.018	–
rs6914438	C>T	Intron 1	–	0.179	0.302
rs9340803	A>G	Intron 2	–	0.027	0.018
rs1801132	C>G	Exon 4	Pro325Pro	0.464	0.498
rs9397459	G>A	Intron 4	–	0.054	0.064
rs3841686	InsT	Intron 5	–	0.446	0.347c
(c.1553+97G>A)	G>A	Intron 7	–	0.009	–
rs2228480	G>A	Exon 8	Thr594Thr	0.232	0.201

Notes:

a MAF from this study.

b MAF for the East Asian Population from the 1000 Genomes Project.

c MAF for the East Asian Population from the Exome Aggregation Consortium database.

Abbreviations: ESR1, estrogen receptor α; SNP, single-nucleotide polymorphism; MAF, Minor allele frequency.

Table 2B ESR2 variants detected by sequencing and allelic frequencies

SNP ID	Variation	Location	Amino acid change	MAFa	MAFb
rs3742614	G>A	Intron 4	–	0.098	0.073
rs755168876	G>C	Exon 5	Pro253Pro	0.009	0.000c
rs1256049	C>T	Exon 6	Val328Val	0.411	0.403
rs1256054	G>C	Exon 7	Leu392Leu	0.036	0.045
rs2229618	G>C	Exon 8	Leu413Val	0.009	0.004
rs146717881	G>A	Exon 8	Ala427Val	0.009	0.004
rs944050	T>C	Intron 8	–	0.500	0.478
rs4986938	C>T	3′ UTR	–	0.063	0.132

Notes:

a MAF from this study,

b MAF for the East Asian Population from the 1000 Genomes Project,

c MAF for the East Asian Population from the Exome Aggregation Consortium database. C allele present in one individual of East Asian descent in Exome Aggregation Consortium, absent in all other populations.

Abbreviations: ESR2, estrogen receptor β; SNP, single-nucleotide polymorphism; MAF, Minor allele frequency.

Table 3 Genotype distributions for controls and cases for genotyped polymorphisms

Gene	Genotype	Controls (%)	Cases (%)	χ^2	p-value
ESR1	TT	246 (45.1)	65 (41.4)
rs2077647	TC	243 (44.5)	74 (47.1)	0.675	0.714
(N=703)	CC	57 (10.4)	18 (11.5)
ESR1	TT	234 (42.9)	52 (36.4)
rs2234693	TC	250 (45.8)	73 (51.0)	1.968	0.374
(N=689)	CC	62 (11.4)	18 (12.6)
ESR1	AA	373 (68.9)	90 (63.8)
rs9340799	AG	146 (27.0)	46 (32.6)	1.780	0.411
(N=682)	GG	22 (4.1)	5 (3.5)
ESR1	SS	271 (49.9)	78 (49.4)
TA repeat*	SL	222 (40.9)	65 (41.1)	0.020	0.990
(N=701)	LL	50 (9.2)	15 (9.5)
ESR2	CC	441 (80.2)	135 (84.9)
rs4986938	CT	101 (18.4)	24 (15.1)	3.399	0.183
(N=709)	TT	8 (1.5)	0 (0)

Notes:

* Short allele (S)≤18 TA repeats and long allele (L)≥19 TA repeats.

Abbreviations: ESR1, estrogen receptor α; ESR2, estrogen receptor β.

Figure 2 Distribution of estrogen receptor α (ESR1) TA repeat alleles for controls and cases.