Objective: To investigate the relationship between ESRα gene single nucleotide polymorphism rs9340799 and male infertility in Han population in Baotou, Inner Mongolia. Methods: The samples of oligoasthenospermia case group (n=200) and normal control group (n=200) were selected, and the genotype of ESRα gene rs9340799 locus was genotyped by PCR-RFLP method. The relationship between rs9340799 polymorphism and male infertility was analyzed by binary logistic regression. At the same time, male health questionnaire and clinical epidemiological data were designed and collected. Results: ESRα gene SNP rs9340799 was associated with the risk of male infertility in both dominant and codominant genetic models (P＜0.05). There were significant differences in genotype and allele frequency distribution between the two groups, suggesting that carrying the G allele was associated with a reduced risk of male infertility (OR=0.198, 95 %CI: 0.119-0.330). In addition, the results of semen analysis showed that there were statistically significant differences in age, forward moving sperm, non-forward moving sperm, total sperm concentration and total sperm motility between the oligoasthenospermia case group and the control group (P＜0.05). Questionnaire data statistics showed that there were differences in indoor and outdoor working environment and home floor decoration between the two groups. Questionnaire data statistics showed that there were differences in indoor and outdoor working environment and home floor decoration between the two groups. Conclusion: ESRα gene single nucleotide polymorphism rs9340799 may be associated with the risk of male infertility in Baotou, Inner Mongolia.
HAO Yuan
,
WU Di
,
WANG Yanguo
,
LI Dechun
. Association between ESRα gene rs9340799 polymorphism and male infertility in Han population of Baotou area[J]. Journal of Baotou Medical College, 2023
, 39(10)
: 33
-37
.
DOI: 10.16833/j.cnki.jbmc.2023.10.007
[1] Agarwal A, Baskaran S, Parekh N, et al.Male infertility[J].Lancet,2021,397(10271):319-333.
[2] Bordin BM, Moura KK.Association between RsaI polymorphism in estrogen receptor beta gene and male infertility[J].Genet Mol Res,2015,14(3):10954-10960.
[3] 周青, 刘帅妹, 张瑞金, 等.雌激素受体β基因多态性与男性不育相关性meta分析[J].中国计划生育学杂志,2022,30(10):2181-2188.
[4] Dama A, Baggio C, Boscaro C, et al.Estrogen receptor functions and pathways at the vascular immune interface[J].Int J Mol Sci,2021,22(8):4254.
[5] Vladoiu S, Dinu Draganescu D, Botezatu A, et al.Correlations between polymorphisms of estrogen 1, vitamin d receptors and hormonal profile in infertile men[J].Acta Endocrinol (Buchar),2016,12(2):137-144.
[6] Luo H, Huang Y, Han M, et al.Associations of serum estradiol level, serum estrogen receptor-alpha level, and estrogen receptor-alpha polymorphism with male infertility: A retrospective study[J].Medicine (Baltimore),2021,100(29):e26577.
[7] Cao XW, Lin K, Li CY, et al.A review of WHO laboratory manual for the examination and processing of human semen (5th edition) [J].Zhonghua Nan Ke Xue,2011,17(12):1059-1063.
[8] 陈振文, 谷龙杰.精液分析标准化和精液质量评估——WHO《人类精液检查与处理实验室手册》(第5版)出版[J].中国计划生育学杂志,2012,20(1):58-62.
[9] Fedder J, Carlsen E, Jorgensen N, et al.Treatment of male infertility[J].Ugeskr Laeger,2021,183(48):V05210402.
[10] Saleh Jaweesh M, Hammadeh ME, Dahadhah FW, et al.Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility[J].Mol Biol Rep,2022,49(5):3609-3616.
[11] Fatima T, Afzal U, Shaharyar S, et al.MTHFR-c 677C>T polymorphism and male infertility: An analysis in a cohort of Pakistani men[J].Rev Int Androl,2022,20(4):274-280.
[12] Kamiński P, Baszyński J, Jerzak I, et al.External and genetic conditions determining male infertility[J].Int J Mol Sci,2020,21(15):5274.
[13] Sharestani S, Kalantar SM, Ghasemi N, et al.CAG repeat polymorphism in androgen receptor and infertility: A case-control study[J].Int J Reprod Biomed,2021,19(9):845-851.
[14] 马宇飞. ESR2基因多态性与河南汉族人群男性不育的相关性分析[D]: 郑州:郑州大学 2014.
[15] Sharma A, Minhas S, Dhillo WS, et al.Male infertility due to testicular disorders[J].J Clin Endocrinol Metab,2021,106(2):e442-e459.
[16] Amir S, Shah STA, Mamoulakis C, et al.Endocrine disruptors acting on estrogen and androgen pathways cause reproductive disorders through multiple mechanisms:a review[J].Int J Environ Res Public Health,2021,18(4):1464.
[17] Mobasseri N, Nikzad H, Karimian M.Protective effect of oestrogen receptor alpha-PvuII transition against idiopathic male infertility: a case-control study and meta-analysis[J].Reprod Biomed Online,2019,38(4):588-598.
[18] Meng J, Mu X, Wang YM.Influence of the XbaI polymorphism in the estrogen receptor-alpha gene on human spermatogenic defects[J].Genet Mol Res,2013,12(2):1808-1815.
[19] Bianco B, Peluso C, Gava MM, et al.Polymorphisms of estrogen receptors alpha and beta in idiopathic, infertile Brazilian men: a case-control study[J].Mol Reprod Dev,2011,78(9):665-672.
[20] 李洁, 陈文成, 元辉雄, 等. 雌激素受体α rs3798759位点多态性与壮族男性生育力的相关性分析[J].重庆医学,2018,47(21):2796-2798, 2803.
[21] 李洁, 元辉雄, 庞艳芳, 等. 雌激素受体α PvuⅡ、XbaⅠ位点多态性与壮族男性生育力的相关性分析[J].国际生殖健康/计划生育杂志,2018,37(3):196-200.
[22] Lazaros LA, Xita NV, Kaponis AI, et al.Estrogen receptor alpha and beta polymorphisms are associated with semen quality[J].J Androl,2010,31(3):291-298.
