Expressive

rs10417628 - AMH

Magnitude 2.2 · 2 studies on file

Reported associations

  • Circulating anti-Müllerian hormone levels in pre-menopausal women: novel genetic insights from a genome-wide association meta-analysis - Unknown journal (n.d.) · Unknown authors · PubMed 38815977

    ABSTRACT: Abstract STUDY QUESTION Can a genome-wide association study (GWAS) meta-analysis, including a large sample of young premenopausal women from a founder population from Northern Finland, identify novel genetic variants for circulating anti-Müllerian hormone (AMH) levels and provide insights into single-nucleotide polymorphism enrichment in different biological pathways and tissues involved in AMH regulation? SUMMARY ANSWER The meta-analysis identified a total of six loci associated with AMH levels at P < 5 × 10−8, three of which were novel in or near CHEK2, BMP4, and EIF4EBP1, as well as highlighted significant enrichment in renal system vasculature morphogenesis, and the pituitary gland as the top associated tissue in tissue enrichment analysis. WHAT IS KNOWN ALREADY A

  • Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in women - Unknown journal (n.d.) · Unknown authors · PubMed 35274129

    ABSTRACT: Abstract STUDY QUESTION Can additional genetic variants for circulating anti-Müllerian hormone (AMH) levels be identified through a genome-wide association study (GWAS) meta-analysis including a large sample of premenopausal women? SUMMARY ANSWER We identified four loci associated with AMH levels at P < 5 × 10−8: the previously reported MCM8 locus and three novel signals in or near AMH, TEX41 and CDCA7. WHAT IS KNOWN ALREADY AMH is expressed by antral stage ovarian follicles in women, and variation in age-specific circulating AMH levels has been associated with disease outcomes. However, the physiological mechanisms underlying these AMH-disease associations are largely unknown. STUDY DESIGN, SIZE, DURATION We performed a GWAS meta-analysis in which we combined summary statist

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