WFRF:(Aschim Elin L)
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- Aschim, Elin L (author)
The RsaI polymorphism in the ER{beta} gene is associated with male infertility.
- Article/chapterEnglish2005
Publisher, publication year, extent ...
- The Endocrine Society,2005
Numbers
- LIBRIS-ID:oai:lup.lub.lu.se:277f8102-9108-4492-a11d-f3ba0fb9df6c
- https://lup.lub.lu.se/record/142322URI
- https://doi.org/10.1210/jc.2005-0263DOI
Supplementary language notes
- Language:English
- Summary in:English
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Notes
- Context: Hypospadias, cryptorchidism, testicular cancer, and low semen quality have been proposed as being parts of the testicular dysgenesis syndrome (TDS) hypothetically due to changes in the androgen- estrogen balance in utero. Estrogens and estrogen receptors (ERs) play a role in regulating testicular function. ER beta contains two silent polymorphisms, RsaI (G1082A) and AluI (G1730A). Objective: We investigated the significance of these polymorphisms in the etiology of disorders being part of TDS. Setting: The patients were recruited consecutively through university hospital clinics. Participants: Four groups of Caucasian patients were included: 106 men from infertile couples with a sperm concentration less than 5 x 106 spermatozoa/ ml, 86 testicular cancer patients, 51 boys with hypospadias, and 23 cases with cryptorchidism. Military conscripts (n = 186) with sperm concentration higher than 5 x 10(6) spermatozoa/ ml served as controls. Main Outcome Measures: ER beta polymorphisms RsaI and AluI were determined by allele-specific PCR. In addition, reproductive hormone analyses were performed in controls and infertile men. Results: Compared with the controls, the frequency of the heterozygous RsaI AG-genotype was three times higher in infertile men (13.2 vs. 4.3%; P = 0.01). The heterozygous RsaI AG-genotype was associated with an approximately 20% reduction in LH concentration, compared with the wild-type RsaI GG genotype in both controls and infertile men. Subjects with testicular cancer, hypospadias, or cryptorchidism did not differ from controls regarding the frequency of any of the polymorphisms. Conclusions: Polymorphisms in ER beta may have modulating effects on human spermatogenesis. The phenotype of TDS seems to be, at least partly, determined by the genotype.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Reproduktionsmedicin och gynekologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Obstetrics, Gynaecology and Reproductive Medicine hsv//eng
Added entries (persons, corporate bodies, meetings, titles ...)
- Giwercman, AleksanderLund University,Lunds universitet,Reproduktionsmedicin, Malmö,Forskargrupper vid Lunds universitet,Reproductive medicine, Malmö,Lund University Research Groups(Swepub:lu)kir-agi (author)
- Ståhl, OlofLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine(Swepub:lu)kir-ost (author)
- Eberhard, JakobLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Institutionen för kliniska vetenskaper, Malmö,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Department of Clinical Sciences, Malmö(Swepub:lu)kir-jeb (author)
- Cwikiel, MagdalenaLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-mcw (author)
- Nordenskjöld, Agneta (author)
- Haugen, Trine B (author)
- Grotmol, Tom (author)
- Giwercman, Yvonne L (author)
- Reproduktionsmedicin, MalmöForskargrupper vid Lunds universitet (creator_code:org_t)
Related titles
- In:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society90:Jul 5, s. 5343-53481945-71970021-972X
Internet link
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15998774&dopt=AbstractFULLTEXT
- http://dx.doi.org/10.1210/jc.2005-0263FULLTEXT
- https://academic.oup.com/jcem/article-pdf/90/9/5343/10777452/jcem5343.pdf
- https://lup.lub.lu.se/record/142322
- https://doi.org/10.1210/jc.2005-0263
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