The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls
Objective: Fetal anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation, and circulating AMH is used as a marker of testicular tissue in newborns with disorders of sex development. Little is known about the mechanism of action in postnatal life. A recent genome wide assoc...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2018-02-01
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| Series: | Endocrine Connections |
| Subjects: | |
| Online Access: | http://www.endocrineconnections.com/content/7/2/347.full |
| _version_ | 1818548473035751424 |
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| author | Iben Katinka Greiber Casper P Hagen Alexander Siegfried Busch Mikkel Grunnet Mieritz Lise Aksglæde Katharina Main Kristian Almstrup Anders Juul |
| author_facet | Iben Katinka Greiber Casper P Hagen Alexander Siegfried Busch Mikkel Grunnet Mieritz Lise Aksglæde Katharina Main Kristian Almstrup Anders Juul |
| author_sort | Iben Katinka Greiber |
| collection | DOAJ |
| description | Objective: Fetal anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation, and circulating AMH is used as a marker of testicular tissue in newborns with disorders of sex development. Little is known about the mechanism of action in postnatal life. A recent genome wide association study (GWAS) reported genetic variation of AMH affecting AMH levels in young men. This study investigated the effect of genetic variation of AMH and AMH type II receptor (AMHR2) (AMHrs10407022
T>G and AMHR2rs11170547 C>T) on circulating reproductive hormone levels and pubertal onset in boys and girls.
Design and methods: This study is a combined longitudinal and cross-sectional study in healthy Danish boys and girls from the general population. We included 658 boys
aged 5.8–19.8 years and 320 girls aged 5.6–16.5 years. The main outcome measures
were genotyping of AMH and AMHR2, pubertal staging and serum levels of reproductive hormones.
Results: AMHrs10407022T>G was associated with higher serum levels of AMH in prepubertal boys (TT: 575 pmol/L vs TG: 633 pmol/L vs GG: 837 pmol/L, P = 0.002) and adolescents (TT: 44 pmol/L vs TG: 58 pmol/L vs GG: 79 pmol/L, P < 0.001). Adolescent boys carrying the genetic variation also had lower levels of LH (TT: 3.0 IU/L vs TG: 2.8 IU/L vs GG: 1.8 IU/L, P = 0.012). Hormone levels in girls and pubertal onset in either sex did not seem to be profoundly affected by the genotypes.
Conclusion: Our findings support recent GWAS results in young adults and expand our understanding of genetic variation affecting AMH levels even in boys prior to the pubertal decline of circulating AMH. |
| first_indexed | 2024-12-12T08:20:24Z |
| format | Article |
| id | doaj.art-d31930d0b73048cd9f4f88ddbb751440 |
| institution | Directory Open Access Journal |
| issn | 2049-3614 2049-3614 |
| language | English |
| last_indexed | 2024-12-12T08:20:24Z |
| publishDate | 2018-02-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-d31930d0b73048cd9f4f88ddbb7514402022-12-22T00:31:26ZengBioscientificaEndocrine Connections2049-36142049-36142018-02-017734735410.1530/EC-17-0299The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girlsIben Katinka Greiber0Casper P Hagen1Alexander Siegfried Busch2Mikkel Grunnet Mieritz3Lise Aksglæde4Katharina Main5Kristian Almstrup6Anders Juul7Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkDepartment of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkObjective: Fetal anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation, and circulating AMH is used as a marker of testicular tissue in newborns with disorders of sex development. Little is known about the mechanism of action in postnatal life. A recent genome wide association study (GWAS) reported genetic variation of AMH affecting AMH levels in young men. This study investigated the effect of genetic variation of AMH and AMH type II receptor (AMHR2) (AMHrs10407022 T>G and AMHR2rs11170547 C>T) on circulating reproductive hormone levels and pubertal onset in boys and girls. Design and methods: This study is a combined longitudinal and cross-sectional study in healthy Danish boys and girls from the general population. We included 658 boys aged 5.8–19.8 years and 320 girls aged 5.6–16.5 years. The main outcome measures were genotyping of AMH and AMHR2, pubertal staging and serum levels of reproductive hormones. Results: AMHrs10407022T>G was associated with higher serum levels of AMH in prepubertal boys (TT: 575 pmol/L vs TG: 633 pmol/L vs GG: 837 pmol/L, P = 0.002) and adolescents (TT: 44 pmol/L vs TG: 58 pmol/L vs GG: 79 pmol/L, P < 0.001). Adolescent boys carrying the genetic variation also had lower levels of LH (TT: 3.0 IU/L vs TG: 2.8 IU/L vs GG: 1.8 IU/L, P = 0.012). Hormone levels in girls and pubertal onset in either sex did not seem to be profoundly affected by the genotypes. Conclusion: Our findings support recent GWAS results in young adults and expand our understanding of genetic variation affecting AMH levels even in boys prior to the pubertal decline of circulating AMH.http://www.endocrineconnections.com/content/7/2/347.fullanti-Mullerian hormoneanti-Mullerian hormone receptorsingle-nucleotide polymorphismpuberty |
| spellingShingle | Iben Katinka Greiber Casper P Hagen Alexander Siegfried Busch Mikkel Grunnet Mieritz Lise Aksglæde Katharina Main Kristian Almstrup Anders Juul The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls Endocrine Connections anti-Mullerian hormone anti-Mullerian hormone receptor single-nucleotide polymorphism puberty |
| title | The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls |
| title_full | The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls |
| title_fullStr | The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls |
| title_full_unstemmed | The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls |
| title_short | The AMH genotype (rs10407022 T>G) is associated with circulating AMH levels in boys, but not in girls |
| title_sort | amh genotype rs10407022 t g is associated with circulating amh levels in boys but not in girls |
| topic | anti-Mullerian hormone anti-Mullerian hormone receptor single-nucleotide polymorphism puberty |
| url | http://www.endocrineconnections.com/content/7/2/347.full |
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