Table 2.

Differences in trait expression between women with major versus minor haplotypes of FSHB promoter polymorphism marked by the SNP rs10835638 and tightly linked SNPs

Type of trait	Pattern found in major haplotype compared to minor haplotype	Comments
Endocrine	Lower luteinizing hormone Higher follicle-stimulating hormone Lower serum testosterone	All of these phenotypes are associated with endometriosis
Menstrual	Earlier menarche Shorter menstrual cycles More-excessive menstruation Earlier menopause	All of these phenotypes are associated with endometriosis
Reproductive	Earlier age at first parturition/birth Higher lifetime parity (births) Lower risk of nulliparity (no births) Higher rate of dizygotic twinning	Higher rate of dizygotic twinning may be due to higher rate of two luteinizing hormone surges (which typically indicate ovulation), in women with endometriosis [81]
Disease-related	Higher risk of endometriosis Lower risk of PCOS	Rates of endometriosis are also reduced among women diagnosed with PCOS, and involve minimal-to-mild expression (see [3])

See text for citations. In PheWAS analysis [80], rs10835638 is also associated with age at first live birth (P = 0.00031), WHR (P = 0.0016), number of older siblings (P = 0.0086), age at last live birth (P = 0.012), having had a bilateral oophorectomy (both ovaries removed) (P = 1.09 x 1 0 ⁻¹⁰) and having had a hysterectomy (removal of the uterus) (P = 5.6 x 1 0 ⁻⁸).