ARNTL (BMAL1) and NPAS2 gene variants contribute to fertility and seasonality

Kovanen L, Saarikoski ST, Aromaa A, Lönnqvist J, Partonen T. PLoS One. 2010; 5(4): e10007.

This Finnish study aimed to investigate the relationship between circadian clock genes and fertility. 511 subjects, aged 30 or older, were recruited from a national cohort. They underwent a diagnostic mental health interview, completed a modified Seasonal Pattern Assessment Questionnaire and genotyping was performed from patient blood samples.

Many nominally significant associations were found before correcting for multiple testing. The one association still significant after false discovery rate adjustment was that women homozygous for the rs2278749 SNP in the bmal1 gene experience a higher number of miscarriages than those with a wild type allele.

rs2278749 in bmal1

bmal1 rs2278749

NCBI Variation Viewer rs2278749

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