Correlative Study on Mutant allele of CYP19 240A/G, COMT 1947G/A, Endometriosis and Adenomyosis

doi:10.3877/cma.j.issn.1673-5250.2013.01.014

Objective

To investigate the correlation of polymorphism of CYP19 240A/G, COMT 1947G/A, endometriosis (EMs) and adenomyosis (AM).

Methods

From September 2011 to March 2012, thirty cases of EMs and 50 cases of AM were recruited into this study. Meanwhile, thirty-eight cases without EMs and AM were included into control group. The blood were collected from all of them in the morning after the operation. The correlation between the multibus of two genes about EMs and AM was evaluated by PCR-restriction fragment length polymorphism (PCR-RFLP). The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Affiliated Hospital of Binzhou Medical College. Informed consent was obtained from all participates.

Results

There were a significant difference of the alleles and genotype of CYP19 240A/G between EMs group, AM group and control group (P<0.05). The mutant allele of G made relative risk suffered from EMs and AM got 2.463 times, 2.705 times, respectively. The relative risks suffered from EMs and AM of AG and GG genotype were 4.444 and 3.939 times of GG genotype, respectively. There were no significant difference of the alleles and genotype of COMT 1947G/A between EMs group, AM group and control group (P>0.05). There were no significance between the genotype that caught A(GA+ AA)and GG genotype (P>0.05). There was no correlation between GA and AA genotype and the risk suffered from EMs and AM.

Conclusions

The mutant allele of CYP19 240A/G increased the risk suffered from EMs and AM. The mutant allele of COMT 1947A/G had no relationship with the risk of EMs and AM.

Key words: endometriosis, adenomyosis, CYP19, COMT, mutant allele

表1 CYP19基因240A/G和COMT基因1947G/A引物序列、褪火温度、扩增片段长度

Table 1 The primer sequence, annealing temperature and amplified fragment length of CYP19 240A/G and COMT 1947G/A, respectively

基因	引物序列(5'→3')	褪火温度(℃)	扩增片段长度(bp)
CYP19 240A/G	AGTAACACAGAACAGTTGCA	51	188
?	TCCAGACTCGCATGAATTCTCCGTA	?	?
COMT 1947G/A	TCGTGGACGCCGTGATTCAGG	59	217
?	AGGTCTGACAACGGGTCAGGC	?	?

表1 CYP19基因240A/G和COMT基因1947G/A引物序列、褪火温度、扩增片段长度

Table 1 The primer sequence, annealing temperature and amplified fragment length of CYP19 240A/G and COMT 1947G/A, respectively

基因	引物序列(5'→3')	褪火温度(℃)	扩增片段长度(bp)
CYP19 240A/G	AGTAACACAGAACAGTTGCA	51	188
?	TCCAGACTCGCATGAATTCTCCGTA	?	?
COMT 1947G/A	TCGTGGACGCCGTGATTCAGG	59	217
?	AGGTCTGACAACGGGTCAGGC	?	?

图1 CYP19 240A/G位点各基因型(M: marker；1: AG；2: AA；3: GG)

Figure 1 Each genotype of CYP19 240A/G(M: marker，1: AG；2: AA；3: GG)

图2 COMT 1947G/A位点各基因型(M: marker；1: AA；2: GG；3: GA)

Figure 2 Each genotype of COMT 1947G/A(M: marker；1: AA；2: GG；3: GA)

表2 CYP19，COMT各基因型在EMs组，AM组及对照组中的分布频率[n(%)]

Table 2 Frequency distribution of CYP19，COMT genotypes between EMs group, AM group and control group [n(%)]

组别		n	基因型频率			χ²	P
组别		n	AA	AG	GG	χ²	P
CYP19		?	?	?	?	?	?
?	EMs组	30	6(20.00)	17(56.67)	7(23.33)	7.569^a	0.023^a
?	AM组	50	11(22.00)	24(48.00)	15(30.00)	9.422^a	0.009^a
?	对照组	38	20(52.63)	13(34.21)	5(13.16)	?	?
COMT		?	?	?	?	?	?
?	EMs组	30	3(10.00)	11(36.67)	16(53.33)	0.861^a	0.650^a
?	AM组	50	3 (6.00)	17(34.00)	30(60.00)	1.007^a	0.605^a
?	对照组	38	4(10.53)	10(26.32)	24(63.16)	?	?

表2 CYP19，COMT各基因型在EMs组，AM组及对照组中的分布频率[n(%)]

Table 2 Frequency distribution of CYP19，COMT genotypes between EMs group, AM group and control group [n(%)]

组别		n	基因型频率			χ²	P
组别		n	AA	AG	GG	χ²	P
CYP19		?	?	?	?	?	?
?	EMs组	30	6(20.00)	17(56.67)	7(23.33)	7.569^a	0.023^a
?	AM组	50	11(22.00)	24(48.00)	15(30.00)	9.422^a	0.009^a
?	对照组	38	20(52.63)	13(34.21)	5(13.16)	?	?
COMT		?	?	?	?	?	?
?	EMs组	30	3(10.00)	11(36.67)	16(53.33)	0.861^a	0.650^a
?	AM组	50	3 (6.00)	17(34.00)	30(60.00)	1.007^a	0.605^a
?	对照组	38	4(10.53)	10(26.32)	24(63.16)	?	?

表3 CYP19，COMT各等位基因在EMs组，AM组及对照组中的频率分布(%)

Table 3 Frequency distribution of CYP19，COMT alleles between EMs group, AM group and control group (%)

组别		等位基因频率		χ²	P	OR	95%CI
组别		A	G	χ²	P	OR	95%CI
CYP19		?	?	?	?	?	?
?	EMs组	29	31	6.416^a	0.011^a	2.463^a	1.218～4.981
?	AM组	46	54	9.887^a	0.002^a	2.705^a	1.444～5.068
?	对照组	53	23	?	?	?	?
COMT		?	?	?	?	?	?
?	EMs组	17	43	0.379^a	0.538^a	1.274^a	0.589～2.755
?	AM组	23	77	0.011^a	0.915^a	0.962^a	0.476～1.947
?	对照组	18	58	?	?	?	?

表3 CYP19，COMT各等位基因在EMs组，AM组及对照组中的频率分布(%)

Table 3 Frequency distribution of CYP19，COMT alleles between EMs group, AM group and control group (%)

组别		等位基因频率		χ²	P	OR	95%CI
组别		A	G	χ²	P	OR	95%CI
CYP19		?	?	?	?	?	?
?	EMs组	29	31	6.416^a	0.011^a	2.463^a	1.218～4.981
?	AM组	46	54	9.887^a	0.002^a	2.705^a	1.444～5.068
?	对照组	53	23	?	?	?	?
COMT		?	?	?	?	?	?
?	EMs组	17	43	0.379^a	0.538^a	1.274^a	0.589～2.755
?	AM组	23	77	0.011^a	0.915^a	0.962^a	0.476～1.947
?	对照组	18	58	?	?	?	?

表4 EMs组与对照组CYP19，COMT突变型和野生型比较[n(%)]

Table 4 Comparison of mutant and wild type in CYP19，COMT between EMs group and control group[n(%)]

组别	n	CYP19		COMT
组别	n	AG＋GG	AA	GA＋AA	GG
EMs组	30	24(80.00)	6(20.00)	14(46.67)	16(53.33)
对照组	38	18(47.37)	20(52.63)	14(36.84)	24(63.16)
χ²	?	7.559		0.668
P	?	0.006		0.414
OR	?	4.444		1.500
95%CI	?	1.482～13.326		0.566～3.973

表4 EMs组与对照组CYP19，COMT突变型和野生型比较[n(%)]

Table 4 Comparison of mutant and wild type in CYP19，COMT between EMs group and control group[n(%)]

组别	n	CYP19		COMT
组别	n	AG＋GG	AA	GA＋AA	GG
EMs组	30	24(80.00)	6(20.00)	14(46.67)	16(53.33)
对照组	38	18(47.37)	20(52.63)	14(36.84)	24(63.16)
χ²	?	7.559		0.668
P	?	0.006		0.414
OR	?	4.444		1.500
95%CI	?	1.482～13.326		0.566～3.973

表5 AM组与对照组CYP19，COMT突变型和野生型比较[n(%)]

Table 5 Comparison of mutant and wild type in CYP19，COMT between AM group and control group[n(%)]

组别	n	CYP19		COMT
组别	n	AG＋GG	AA	GA＋AA	GG
AM组	50	39(78.00)	11(22.00)	20(40.00)	30(60.00)
对照组	38	18(47.37)	20(52.63)	14(36.84)	24(63.16)
χ²	?	8.878		0.091
P	?	0.003		0.763
OR	?	3.939		1.143
95%CI	?	1.569～9.992		0.479～2.724

表5 AM组与对照组CYP19，COMT突变型和野生型比较[n(%)]

Table 5 Comparison of mutant and wild type in CYP19，COMT between AM group and control group[n(%)]

组别	n	CYP19		COMT
组别	n	AG＋GG	AA	GA＋AA	GG
AM组	50	39(78.00)	11(22.00)	20(40.00)	30(60.00)
对照组	38	18(47.37)	20(52.63)	14(36.84)	24(63.16)
χ²	?	8.878		0.091
P	?	0.003		0.763
OR	?	3.939		1.143
95%CI	?	1.569～9.992		0.479～2.724

[1]	Kitawaki J, Kado N, Ishihara H, et al. Endometriosis：The pathophysiology as an estrogen－dependent disease[J]. J Steroid Biochem Mol Biol, 2002, 83(1-5):149-155.
[2]	Miyoshi T, Iwao K, Ikeda N, et al.Breast cancer risk associated with polymorphism in CYP19 Japanese women[J]. Int J Cancer, 2000, 89(4):325-328.
[3]	Kunuqi H, Nanko S, Ueki A, et al. High and low activity alleles of Catechol－O－methyltransferase gene: Ethnic difference and possible association with Parkinson's disease[J]. Neurosci Lett, 1997, 221(2-3):202-204.
[4]	Yue J, ed. Gynecology and obstetrics. 7th ed[M]. Beijing: People's Medical Publishing House, 2008, 325-326.
[5]	Bischoff F, Simpson JL. Genetic basis of endometriosis[J]. Ann N Y Acad Sci, 2004, 1034:284-299.
[6]	Huber JC, Schneeberger C, Tempfer CB. Genetic modelling of the estrogen metabolism as a risk factor of hormone－dependent disorders[J]. Matufitas, 2002, 42(1):1-12.
[7]	Jefcoate CR, Liehr JG, Santen RJ, et al. Tissue－specific synthesis and oxidative metabolism of estrogens[J]. J Natl Cancer Inst Monogr, 2000, 27:95-112.
[8]	Thompson PA, Ambrosone C. Molecular epidemiology of genetic polymorphisms in estrogen metabolizing enzymes in human breast cancer[J]. J Natl Cancer Inst Monogr, 2000, 27(6):125-134.
[9]	Yang X, Chen SQ, Liu M. Association of the CYP19 gene polymorphism with genetic susceptibility to endometriosis[J]. Chin J Med Genet, 2010, 27(6):692-696.
[10]	Zhang F, Xue SP, Qu YE. Study on the correlation between gene polymorphism of COMT and endometriosis and adenomyosis[J]. J Hebei Normal Univ: Nat Sci Ed, 2011, 35(3):309-312.

[1]	Chengmei Zhu, Qiaomei Zhao, Xuedong Deng. Diagnostic value of transvaginal ultrasound combined with saline-infusion sonoPODography in peritoneal endometriosis[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(01): 32-36.
[2]	Likun Wei, Xuhong Zhang, Ying Luo, Fengxia Xue, Yingmei Wang, Xueru Song, Lina Tian, Yanfang Zhang, Yanxia Wang, Wenyan Tian. Malignant transformation of ovarian endometrioma and pelvic abscesses: a case report and literature review[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(06): 696-702.
[3]	Dan Luo, Weimin Kong, Shuning Chen, Xiaoling Zhao, Yunkai Xie. Differences in epithelial mesenchymal transition-related biological markers between in-situ and ectopic endometrial epithelial cells in endometriosis patients[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(05): 530-539.
[4]	Lei Zhang, Chao Peng, Yingfang Zhou. The laparoscopic surgical techniques for recto-vaginal septum endometriosis[J]. Chinese Journal of Laparoscopic Surgery(Electronic Edition), 2024, 17(05): 257-261.
[5]	Qiming Hu, Xiao Yan, Zhixue You, Xiaohao Huang. Multi-focal abdominal wall endometriosis was treated by laparoendoscopic single-site resection through the sca[J]. Chinese Journal of Laparoscopic Surgery(Electronic Edition), 2024, 17(05): 314-317.
[6]	Jing Wang, Jianjian Gao, Ping Liu, Meirong Lu, Yongxing Yuan, Xi Hu, Liangliang Sun, Junliang Li, Hailin Wang. Analysis of the da Vinci robotic laparo-endoscopic single site surgery for benign gynecological diseases[J]. Chinese Journal of Laparoscopic Surgery(Electronic Edition), 2023, 16(06): 342-347.
[7]	Chenglei Gu, Jia Xu, Nina Zhang, Luyang Zhao, Wensheng Fan. Application of robotic-assisted surgery in difficult hysterectomy[J]. Chinese Journal of Laparoscopic Surgery(Electronic Edition), 2023, 16(05): 283-287.
[8]	Yu Lu, Zhenyu Li, Chengdong Wu, Zhongwu Zhou. A case report of perianal endometriosis[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(05): 431-434.
[9]	Juan Chen, Jingmin Deng. Progress in research of thoracic endometriosis syndrome[J]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(01): 96-100.
[10]	Dingran Wang, Hongbin Chi. Effects of autoimmune thyroiditis on embryo transfer outcomes in patients with endometriosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(06): 682-688.
[11]	Ning Wang, Manli Wu, Dongxia Yang. Metabolome biomarkers: new targets for the diagnosis and treatment of endometriosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2022, 16(12): 1280-1283.
[12]	Suwei Lan, Chunhui Wang, Lifeng Chang, Xingcha Wang, Mingjing Zhai, Yang Li. Relationship of serum miRNA-10b and miRNA-34a expression with postoperative recurrence in patients with endometriosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2022, 16(08): 759-763.
[13]	Quan Wang, Yingmei Zhou, Ying He. Clinical significance of expression of p27 and cyclin E in endometriosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2022, 16(06): 546-552.
[14]	Lin Zhu, Ning Liu. Clinical efficacy of dienogest in treatment of recurrent ovarian endometriosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2022, 16(06): 519-523.
[15]	Fan Hong, Dunjin Chen, Yang Fu, Xinyue Liang, Yi Wu, Xiaoyi Wang. Clinical study of in vitro fertilization-embryo transfer pregnancy complicated with placenta previa[J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2024, 13(03): 176-182.

Viewed

Full text

Abstract

Please choose a citation manager

Content to export