Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

© 2018 Elsevier Inc. Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1.76, 95% CI = 1.71–1.81, p = 1.7 × 10−109) compared to population cases from the FINRISK cohort (n = 1,101, OR = 1.32, 95% CI = 1.25–1.38, p = 7.2 × 10−17). The PRS explained 1.6% of the phenotypic variance in the population cases and 3.5% in the familial cases (including 2.9% for migraine without aura, 5.5% for migraine with typical aura, and 8.2% for hemiplegic migraine). The results demonstrate a significant contribution of common polygenic variation to the familial aggregation of migraine. Gormley et al. use polygenic risk scores to show that common variation, captured by genome-wide association studies, in combination contributes to the aggregation of migraine in families. The results may have similar implications for other complex traits in general

Common variant burden contributes to the familial aggregation of migraine in 1,589 families

Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1.76, 95% CI = 1.71-1.81, p = 1.7 × 10-109) compared to population cases from the FINRISK cohort (n = 1,101, OR = 1.32, 95% CI = 1.25-1.38, p = 7.2 × 10-17). The PRS explained 1.6% of the phenotypic variance in the population cases and 3.5% in the familial cases (including 2.9% for migraine without aura, 5.5% for migraine with typical aura, and 8.2% for hemiplegic migraine). The results demonstrate a significant contribution of common polygenic variation to the familial aggregation of migraine

Hydrogen production by Clostridium cellulolyticum a cellulolytic and hydrogen-producing bacteria using sugarcane bagasse

Hydrogen (H2) production by Clostridium cellulolyticum was investigated. Anaerobic batch reactors were operated with cellobiose (2 g/L) and pretreated sugarcane bagasse (SCB) (2 g/L) using a hydrothermal system to observe the effects of carbon source on H2 production. Salts (NH4Cl, NaCl, MgCl2 and CaCl2) and vitamins (biotin, nicotinamide, p-aminobenzoic acid, thiamine, pantothenic acid, pyridoxamine, cyanocobalamin, riboflavin, folic and lipoic acid) were supplemented from stock solutions at different volumes percentages, ranging from 0 to 5%. The optimal concentration was 2.5% and the strain used both substrates and produced H2 which was higher for cellobiose (14.9±0.2 mmol/L) than for SCB (7.6±0.2 mmol/L), although the phase was much smaller when SCB (59.9 h) was used in relation to the assay with cellobiose (164 h). H2 was produced from SCB primarily through the fermentation of lactic and acetic acids.(undefined)info:eu-repo/semantics/publishedVersio