Skip to main content

Table 3 Nucleotide variations within the human candidate genes and the significance of their association with endometriosis

From: Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study

Gene

dbSNP accession no.

Location

Allelea

Amino acid substitution

Allele frequencyb

OR (90 % CI)

P value

P c value

Patients

Controls

AhR

rs713150

Intron 1

C/g

–

79 (40.7)

87 (30.4)

1.57 (1.07–2.30)

0.020

0.540

rs2282886

Intron 1

A/g

–

109 (69.9)

157 (66.5)

1.17 (0.75–1.80)

0.487

1.000

rs2237299

Intron 1

T/c

–

139 (73.2)

192 (68.1)

1.28 (0.85–1.92)

0.238

1.000

rs2237298

Intron 1

T/c

–

139 (73.2)

192 (68.1)

1.28 (0.85–1.92)

0.238

1.000

rs3802083

Intron 1

T/c

–

131 (68.2)

186 (65.5)

1.13 (0.77–1.67)

0.535

1.000

rs2282883

Intron 2

T/c

–

122 (69.3)

170 (65.9)

1.17 (0.78–1.76)

0.455

1.000

rs1476080

Intron 2

T/g

–

131 (68.2)

183 (66.3)

1.09 (0.74–1.62)

0.663

1.000

rs2237297

Intron 2

G/a

–

86 (45.7)

127 (45.4)

1.02 (0.70–1.02)

0.934

1.000

rs3802082

Intron 5

A/t

–

100 (52.6)

131 (52.0)

1.03 (0.70–1.50)

0.893

1.000

rs2066853

Exon 10

G/a

Arg/Lys

91 (47.9)

155 (45.8)

1.09 (0.75–1.57)

0.654

1.000

rs2040623

Intron 10

C/a

–

96 (49.5)

137 (47.9)

1.07 (0.74–1.53)

0.734

1.000

rs2106728

Intron 10

T/c

–

169 (87.1)

219 (76.6)

2.07 (1.26–3.39)

0.004

0.108

AHRR

rs2292596

Exon 6

C/g

Pro/Ala

69 (37.5)

103 (36.8)

1.03 (0.70–1.51)

0.876

1.000

ARNT

rs11204735

Intron 1

A/g

–

84 (46.7)

112 (43.8)

1.13 (0.77–1.65)

0.547

1.000

rs3768015

Intron 5

C/t

–

127 (66.8)

164 (61.2)

1.28 (0.87–1.89)

0.216

1.000

rs10305711

Intron 9

A/g

–

127 (67.6)

177 (62.8)

1.24 (0.84–1.82)

0.287

1.000

CYP1A1

rs3826042

Promoter

G/a

–

157 (89.2)

220 (84.6)

1.50 (0.84–2.68)

0.169

1.000

rs3826041

Promoter

T/g

–

73 (41.5)

104 (40.0)

1.06 (0.72–1.57)

0.758

1.000

rs4646421

Intron 1

C/t

–

71 (37.0)

90 (31.9)

1.25 (0.85–1.84)

0.253

1.000

rs4646422

Exon 2

G/a

Gly/Asp

29 (14.9)

32 (11.3)

1.37 (0.80–2.35)

0.248

1.000

rs1048943

Exon 7

A/g

Ile/Val

46 (24.2)

61 (22.3)

1.12 (0.72–1.73)

0.624

1.000

rs5030838

3′ flanking region

T/c

–

72 (37.1)

92 (32.4)

1.23 (0.84–1.81)

0.286

1.000

CYP2E1

rs2070673

Promoter

T/a

–

95 (55.9)

133 (54.5)

1.06 (0.71–1.06)

0.782

1.000

EPHX1

rs1051740

Exon 3

T/c

Tyr/His

113 (58.2)

145 (51.1)

1.34 (0.93–1.93)

0.121

1.000

rs2292566

Exon 3

G/a

synonymous

57 (29.4)

76 (26.8)

1.14 (0.76–1.71)

0.530

1.000

GSTP1

rs1695

Exon 5

A/g

Ile/Val

29 (14.9)

40 (14.1)

1.07 (0.64–1.80)

0.792

1.000

rs4891

Exon 7

T/c

synonymous

165 (85.1)

239 (84.2)

1.07 (0.65–1.78)

0.790

1.000

NAT2

rs1799930

Exon 2

G/a

Arg/Gln

131 (74.4)

183 (73.2)

1.07 (0.69–1.65)

0.776

1.000

  1. dbSNP, Single Nucleotide Polymorphism Database; OR, odds ratio; CI, confidence interval
  2. aIn the allele column, a nucleotide on the left-hand side of the slash is a more frequent allele in the controls; each allele is represented by the nucleotide sequence of the sense strand of each gene
  3. bAllele frequency is presented as the number, with the percentage in parenthesis; frequencies listed are higher in the patients than in the controls
Back to article page

Environmental Health and Preventive Medicine

ISSN: 1347-4715

Contact us