Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition

The effect of prey quality and ice conditions on the nutritional status of Baltic gray seals of different age groups

Abstract We analyzed a long-term data set of the body condition of Baltic gray seals (Halichoerus grypus) over time and investigated how average subcutaneous blubber thickness of different age groups of seals corresponds to environmental factors. Blubber thickness of pups declined until 2010. The decreasing weight of 5–6-year-old herring (Clupea harengus),the main prey fish for Baltic gray seals, explained well the decline. In the Gulf of Finland, the blubber thickness of pups declined also in recent years (2011–2015) with declining number of days with permanent ice cover. In other regions, the blubber thickness of pups increased during recent years with increasing weight of herring. The blubber thickness of subadults in Baltic Proper and that of hunted adult females in the Bothnian Bay also increased during recent years, and the weight of age 6+ or 7-year-old herring best explained the increase. The blubber thickness of all age groups of seals was thinnest in the Bothnian Bay where also herring weight was lowest. There was a negative correlation between blubber thickness of seals and herring catch size (an index of herring abundance) suggesting that herring quality, not the quantity, is important for the nutritional status of Baltic gray seals. Nutritional status of gray seals may thus reveal changes in the marine food web which affect herring quality. Marine food web, in turn, may be affected, e.g., by climate change. The warming climate also has an impact on ice cover and thus body condition of seal pups