Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility

Lee, I. Wen; Kuo, Po-Chen; Su, Mei Tsz; Kuan, Long Ching; Hsu, Chao Chin; Kuo, Pao Lin

doi:10.1093/humrep/der062

Cited by 28 publications

(19 citation statements)

References 93 publications

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“…Knowledge of how SHBG is produced in the liver and functions in the blood and within sex steroid target tissues helps us understand the way these genetic polymorphisms might contribute to disease causes. Hip bone mineral density [38] Atherosclerosis [46] rs1799941 Promoter " (A allele) (TAAAA)n [47] Hip bone mineral density [38] Type 2 diabetes [48] Sperm production and motility [49] rs6257 Breast cancer [47,50] Endometrial cancer [42] Sperm production and motility [49] SHBG, sex hormone-binding globulin; SNP, single-nucleotide polymorphism.…”

Section: Resultsmentioning

confidence: 99%

“…The most well studied is a variable (TAAAA) n pentanucleotide repeat located within an Alu element upstream of SHBG promoter [43]. Individuals carrying more than 6 TAAAA repeats have lower serum SHBG levels and higher free androgen levels [37,44 & ], and this polymorphism has been associated with the age of menarche and numerous clinical conditions (Table 1) [45][46][47][48][49][50]. Other SNPs exist in SHBG regulatory regions (Table 1) including the common rs1799941 located close to the transcription start site, where the A and G alleles are associated with higher and lower plasma SHBG levels, respectively [38].…”

Section: Genetic Basis Of Inter-individual Differences In Sex Hormonementioning

confidence: 99%

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Evolving utility of sex hormone-binding globulin measurements in clinical medicine

Hammond

Simard

2012

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Measurements of SHBG are widely used to predict plasma free testosterone levels in patients suffering from excess androgen exposures, but have broader utility in assessing the risk for endocrine diseases and clinical sequelae of the metabolic syndrome, namely, type 2 diabetes and cardiovascular disease. It is anticipated that new genetic and functional data regarding SHBG will reveal whether SHBG is simply a biomarker of these diseases or participants in their cause.

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Section: Resultsmentioning

confidence: 99%

Section: Genetic Basis Of Inter-individual Differences In Sex Hormonementioning

confidence: 99%

Evolving utility of sex hormone-binding globulin measurements in clinical medicine

Hammond

Simard

2012

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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“…Several studies have suggested that hormone levels may be heritable and may predispose individuals to subclinical HH [23,[83][84][85][86][87]. Additionally, polymorphisms in the androgen receptor and trinucleotide repeats may account for a large proportion of the subclinical HH.…”

Section: Discussionmentioning

confidence: 99%

Hormone-Based Treatments in Subfertile Males

2016

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Subfertility is defined as the condition of being less than normally fertile though still capable of effecting fertilization. When these subfertile couples seek assistance for conception, a thorough evaluation of male endocrine function is often overlooked. Spermatogenesis is a complex process where even subtle alterations in this process can lead to subfertility or infertility. Male endocrine abnormalities may suggest a specific diagnosis contributing to subfertility; however, in many patients, the underlying etiology is still unknown. Optimizing underlying endocrine abnormalities may improve spermatogenesis and fertility. This manuscript reviews reproductive endocrine abnormalities and hormone-based treatments.

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“…Following IGF-I treatment of humans and mice suffering from primary growth hormone resistance, serum IGF-I level increased drastically and led to a substantial increase in serum LH, FSH and testicular testosterone [37], [38]. Moreover, polymorphisms in androgen receptor [39], estrogen receptors [40] and aromatase [39], [40] genes have been shown effective on human sperm concentration and motility. In addition to FSH and LH, IGF-I is thus an essential requirement for sexual development and testicular function (see [41] for a review).…”

Section: Discussionmentioning

confidence: 99%

Synergistic Effect of Fadrozole and Insulin-Like Growth Factor-I on Female-To-Male Sex Reversal and Body Weight of Broiler Chicks

et al. 2014

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The aim of this study was to investigate the effects of Fadrozole hydrochloride and recombinant human insulin-like growth factor I (rhIGF-I) on female-to-male sex reversal, hatching traits, and body weight of broiler chickens. On the third day of incubation, fertile eggs were randomly assigned to five experimental groups comprising (i) Fadrozole (0.1 mg/egg), (ii) rhIGF-I (100 ng/egg), (iii) Fadrozole (0.1 mg/egg) + rhIGF-I (100 ng/egg), (iv) vehicle injection (10 mM acetic acid and 0.1% BSA), and (v) non-injected eggs. Eggs in the rhIGF-I-injected groups showed the mode of hatching time at the 480th hour of incubation, 12 hours earlier compared to the other groups, with no statistically significant difference in mortality and hatchability. On Day 1 and 42 of production, 90% of genetically female chicks were masculinized using Fadrozole treatment, while 100% female-to-male phenotypic sex reversal was observed in the Fadrozole+rhIGF-I group. Fadrozole equalized the body weight of both genders, although rhIGF-I was effective on the body weight of male chicks only. Interestingly, combined rhIGF-I and Fadrozole could increase the body weight in both sexes compared to the individual injections (P<0.05). These findings revealed that (i) IGF-I-treated chicken embryos were shown to be an effective option for overcoming the very long chicken deprivation period, (ii) the simultaneous treatment with Fadrozole and IGF-I could maximize the female-to-male sex reversal chance, (iii) the increase in the body weight of masculinized chickens via Fadrozole could be equal to their genetically male counterparts, and (iv) the IGF-I effectiveness, specifically along with the application of aromatase inhibitors in female chicks, indicates that estrogen synthesis could be a stumbling block for the IGF-I action mechanism in female embryos.

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Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility

Abstract: Quantitative trait analysis based on a limited number of genetic markers suggests that estrogen-related genes mainly regulate sperm concentration and motility.

Cited by 28 publications

References 93 publications

Evolving utility of sex hormone-binding globulin measurements in clinical medicine

Evolving utility of sex hormone-binding globulin measurements in clinical medicine

Hormone-Based Treatments in Subfertile Males

Synergistic Effect of Fadrozole and Insulin-Like Growth Factor-I on Female-To-Male Sex Reversal and Body Weight of Broiler Chicks

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