@article {6804, title = {Genome-wide meta-analyses of smoking behaviors in African Americans.}, journal = {Transl Psychiatry}, volume = {2}, year = {2012}, month = {2012}, pages = {e119}, abstract = {

The identification and exploration of genetic loci that influence smoking behaviors have been conducted primarily in populations of the European ancestry. Here we report results of the first genome-wide association study meta-analysis of smoking behavior in African Americans in the Study of Tobacco in Minority Populations Genetics Consortium (n = 32,389). We identified one non-coding single-nucleotide polymorphism (SNP; rs2036527[A]) on chromosome 15q25.1 associated with smoking quantity (cigarettes per day), which exceeded genome-wide significance (β = 0.040, s.e. = 0.007, P = 1.84 {\texttimes} 10(-8)). This variant is present in the 5{\textquoteright}-distal enhancer region of the CHRNA5 gene and defines the primary index signal reported in studies of the European ancestry. No other SNP reached genome-wide significance for smoking initiation (SI, ever vs never smoking), age of SI, or smoking cessation (SC, former vs current smoking). Informative associations that approached genome-wide significance included three modestly correlated variants, at 15q25.1 within PSMA4, CHRNA5 and CHRNA3 for smoking quantity, which are associated with a second signal previously reported in studies in European ancestry populations, and a signal represented by three SNPs in the SPOCK2 gene on chr10q22.1. The association at 15q25.1 confirms this region as an important susceptibility locus for smoking quantity in men and women of African ancestry. Larger studies will be needed to validate the suggestive loci that did not reach genome-wide significance and further elucidate the contribution of genetic variation to disparities in cigarette consumption, SC and smoking-attributable disease between African Americans and European Americans.

}, keywords = {Adult, African Americans, Aged, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 15, Female, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Nerve Tissue Proteins, Phenotype, Polymorphism, Single Nucleotide, Proteoglycans, Receptors, Nicotinic, Smoking, Statistics as Topic}, issn = {2158-3188}, doi = {10.1038/tp.2012.41}, author = {David, S P and Hamidovic, A and Chen, G K and Bergen, A W and Wessel, J and Kasberger, J L and Brown, W M and Petruzella, S and Thacker, E L and Kim, Y and Nalls, M A and Tranah, G J and Sung, Y J and Ambrosone, C B and Arnett, D and Bandera, E V and Becker, D M and Becker, L and Berndt, S I and Bernstein, L and Blot, W J and Broeckel, U and Buxbaum, S G and Caporaso, N and Casey, G and Chanock, S J and Deming, S L and Diver, W R and Eaton, C B and Evans, D S and Evans, M K and Fornage, M and Franceschini, N and Harris, T B and Henderson, B E and Hernandez, D G and Hitsman, B and Hu, J J and Hunt, S C and Ingles, S A and John, E M and Kittles, R and Kolb, S and Kolonel, L N and Le Marchand, L and Liu, Y and Lohman, K K and McKnight, B and Millikan, R C and Murphy, A and Neslund-Dudas, C and Nyante, S and Press, M and Psaty, B M and Rao, D C and Redline, S and Rodriguez-Gil, J L and Rybicki, B A and Signorello, L B and Singleton, A B and Smoller, J and Snively, B and Spring, B and Stanford, J L and Strom, S S and Swan, G E and Taylor, K D and Thun, M J and Wilson, A F and Witte, J S and Yamamura, Y and Yanek, L R and Yu, K and Zheng, W and Ziegler, R G and Zonderman, A B and Jorgenson, E and Haiman, C A and Furberg, H} } @article {7981, title = {Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances.}, journal = {Elife}, volume = {8}, year = {2019}, month = {2019 Jan 15}, abstract = {

We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near , , , , , and 13q21.31, and identify and replicate novel findings near , , and . We also validate previous findings near 5q33.3/ and , whilst finding contradictory evidence at other loci. Gene set and cell-specific analyses show that expression in foetal brain cells and adult dorsolateral prefrontal cortex is enriched for lifespan variation, as are gene pathways involving lipid proteins and homeostasis, vesicle-mediated transport, and synaptic function. Individual genetic variants that increase dementia, cardiovascular disease, and lung cancer - but not other cancers - explain the most variance. Resulting polygenic scores show a mean lifespan difference of around five years of life across the deciles.

Editorial note: This article has been through an editorial process in which the authors decide how to respond to the issues raised during peer review. The Reviewing Editor{\textquoteright}s assessment is that all the issues have been addressed (see decision letter).

}, issn = {2050-084X}, doi = {10.7554/eLife.39856}, author = {Timmers, Paul Rhj and Mounier, Ninon and L{\"a}ll, Kristi and Fischer, Krista and Ning, Zheng and Feng, Xiao and Bretherick, Andrew D and Clark, David W and Agbessi, M and Ahsan, H and Alves, I and Andiappan, A and Awadalla, P and Battle, A and Bonder, M J and Boomsma, D and Christiansen, M and Claringbould, A and Deelen, P and van Dongen, J and Esko, T and Fav{\'e}, M and Franke, L and Frayling, T and Gharib, S A and Gibson, G and Hemani, G and Jansen, R and Kalnapenkis, A and Kasela, S and Kettunen, J and Kim, Y and Kirsten, H and Kovacs, P and Krohn, K and Kronberg-Guzman, J and Kukushkina, V and Kutalik, Z and K{\"a}h{\"o}nen, M and Lee, B and Lehtim{\"a}ki, T and Loeffler, M and Marigorta, U and Metspalu, A and van Meurs, J and Milani, L and M{\"u}ller-Nurasyid, M and Nauck, M and Nivard, M and Penninx, B and Perola, M and Pervjakova, N and Pierce, B and Powell, J and Prokisch, H and Psaty, B M and Raitakari, O and Ring, S and Ripatti, S and Rotzschke, O and Ru{\"e}ger, S and Saha, A and Scholz, M and Schramm, K and Sepp{\"a}l{\"a}, I and Stumvoll, M and Sullivan, P and Teumer, A and Thiery, J and Tong, L and T{\"o}njes, A and Verlouw, J and Visscher, P M and V{\~o}sa, U and V{\"o}lker, U and Yaghootkar, H and Yang, J and Zeng, B and Zhang, F and Agbessi, M and Ahsan, H and Alves, I and Andiappan, A and Awadalla, P and Battle, A and Bonder, M J and Boomsma, D and Christiansen, M and Claringbould, A and Deelen, P and van Dongen, J and Esko, T and Fav{\'e}, M and Franke, L and Frayling, T and Gharib, S A and Gibson, G and Hemani, G and Jansen, R and Kalnapenkis, A and Kasela, S and Kettunen, J and Kim, Y and Kirsten, H and Kovacs, P and Krohn, K and Kronberg-Guzman, J and Kukushkina, V and Kutalik, Z and K{\"a}h{\"o}nen, M and Lee, B and Lehtim{\"a}ki, T and Loeffler, M and Marigorta, U and Metspalu, A and van Meurs, J and Milani, L and M{\"u}ller-Nurasyid, M and Nauck, M and Nivard, M and Penninx, B and Perola, M and Pervjakova, N and Pierce, B and Powell, J and Prokisch, H and Psaty, B M and Raitakari, O and Ring, S and Ripatti, S and Rotzschke, O and Ru{\"e}ger, S and Saha, A and Scholz, M and Schramm, K and Sepp{\"a}l{\"a}, I and Stumvoll, M and Sullivan, P and Teumer, A and Thiery, J and Tong, L and T{\"o}njes, A and Verlouw, J and Visscher, P M and V{\~o}sa, U and V{\"o}lker, U and Yaghootkar, H and Yang, J and Zeng, B and Zhang, F and Shen, Xia and Esko, T{\~o}nu and Kutalik, Zolt{\'a}n and Wilson, James F and Joshi, Peter K} }