Simona Vaccargiu

@article{marioni_genetic_2016,

title = {Genetic variants linked to education predict longevity},

author = {Riccardo E Marioni and Stuart J Ritchie and Peter K Joshi and Saskia P Hagenaars and Aysu Okbay and Krista Fischer and Mark J Adams and David W Hill and Gail Davies and Social Science Genetic Association Consortium and Reka Nagy and Carmen Amador and Kristi L{ä}ll and Andres Metspalu and David C Liewald and Archie Campbell and James F Wilson and Caroline Hayward and T{õ}nu Esko and David J Porteous and Catharine R Gale and Ian J Deary},

doi = {10.1073/pnas.1605334113},

issn = {1091-6490},

year  = {2016},

date = {2016-11-01},

journal = {Proceedings of the National Academy of Sciences of the United States of America},

volume = {113},

number = {47},

pages = {13366--13371},

abstract = {Educational attainment is associated with many health outcomes, including longevity. It is also known to be substantially heritable. Here, we used data from three large genetic epidemiology cohort studies (Generation Scotland},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{fan_childhood_2016,

title = {Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium},

author = {Qiao Fan and Xiaobo Guo and Willem J L Tideman and Katie M Williams and Seyhan Yazar and Mohsen S Hosseini and Laura D Howe and Beat{é} St Pourcain and David M Evans and Nicholas J Timpson and George McMahon and Pirro G Hysi and Eva Krapohl and Ya Xing Wang and Jost B Jonas and Paul Nigel Baird and Jie Jin Wang and Ching-Yu Cheng and Yik-Ying Teo and Tien-Yin Wong and Xiaohu Ding and Robert Wojciechowski and Terri L Young and Olavi P{ä}rssinen and Konrad Oexle and Norbert Pfeiffer and Joan E Bailey-Wilson and Andrew D Paterson and Caroline C W Klaver and Robert Plomin and Christopher J Hammond and David A Mackey and Mingguang He and Seang-Mei Saw and Cathy Williams and Jeremy A Guggenheim and CREAM Consortium},

doi = {10.1038/srep25853},

issn = {2045-2322},

year  = {2016},

date = {2016-05-01},

journal = {Scientific Reports},

volume = {6},

pages = {25853},

abstract = {Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{fan_meta-analysis_2016,

title = {Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error},

author = {Fan, Qiao and Verhoeven, Virginie J M and Wojciechowski, Robert and Barathi, Veluchamy A and Hysi, Pirro G and Guggenheim, Jeremy A and H{ö}hn, Ren{é} and Vitart, Veronique and Khawaja, Anthony P and Yamashiro, Kenji and Hosseini, S Mohsen and Lehtim{ä}ki, Terho and Lu, Yi and Haller, Toomas and Xie, Jing and Delcourt, C{é}cile and Pirastu, Mario and Wedenoja, Juho and ... and Zhou, Xiangtian and Chen, Wei and Mizuki, Nobuhisa and Meguro, Akira and M{ä}kel{ä}, Kari Matti},

doi = {10.1038/ncomms11008},

issn = {2041-1723},

year  = {2016},

date = {2016-03-01},

journal = {Nature Communications},

volume = {7},

pages = {11008},

abstract = {Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10(-5)), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{biino_dissecting_2015,

title = {Dissecting metabolic syndrome components: data from an epidemiologic survey in a genetic isolate},

author = {Ginevra Biino and Maria Pina Concas and Hellas Cena and Debora Parracciani and Simona Vaccargiu and Massimiliano Cosso and Francesca Marras and Vittoria D'Esposito and Francesco Beguinot and Mario Pirastu},

doi = {10.1186/s40064-015-1049-9},

year  = {2015},

date = {2015-01-01},

journal = {SpringerPlus},

volume = {4},

pages = {324},

abstract = {The metabolic syndrome (MetS) is a large-scale and expanding public-health and clinical threat worldwide. We investigated the determinants of MetS, assessed its prevalence and components and, estimated their genetic contribution, taking advantage of the special characteristics of Sardinian isolated populations. Inhabitants of 10 villages in Ogliastra region participated in a cross-sectional survey in 2002-2008 (n = 9,647). Blood samples, blood pressure (BP), anthropometry and, data from a standardized interview were collected. Prevalence of MetS was estimated by the direct method of standardization. Variables associated with the MetS were identified using multilevel logistic regression. Heritability was determined using variance component models. MetS Prevalence was 19.6% (95% CI 18.9-20.4%) according to NCEP-ATPIII, 24.8% (95% CI 24.0-25.6%) according to IDF and, 29% (95% CI 28.1-29.8%) according to AHA/NHLBI harmonized criteria, ranging from 9 to 26% among villages. The most prevalent combination was BP + HDL-cholesterol (HDL) + triglycerides (TRIG) (19%), followed by BP + HDL + waist circumference (WAIST) (17%) and, BP + HDL + TRIG + WAIST (13.6%). Heritability of MetS was 48% (p = 1.62 × 10(-25)), as the two most common combinations (BP + HDL + TRIG and BP + HDL + WAIST) showed heritability of 53 and 52%, respectively. The larger genetic components of the two most frequent combinations determining MetS deserve greater investigation in order to understand the underlying mechanisms. Besides, further studies are warranted to confirm these findings both in isolated and outbred populations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{doro_phylogeny_2014,

title = {Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes},

author = {Maria Grazia Doro and Daniela Piras and Giovanni Giuseppe Leoni and Giuseppina Casu and Simona Vaccargiu and Debora Parracciani and Salvatore Naitana and Mario Pirastu and Andrea Novelletto},

doi = {10.1371/journal.pone.0095969},

issn = {1932-6203},

year  = {2014},

date = {2014-01-01},

journal = {PloS One},

volume = {9},

number = {4},

pages = {e95969},

abstract = {We sequenced to near completion the entire mtDNA of 28 Sardinian goats, selected to represent the widest possible diversity of the most widespread mitochondrial evolutionary lineage, haplogroup (Hg) A. These specimens were reporters of the diversity in the island but also elsewhere, as inferred from their affiliation to each of 11 clades defined by D-loop variation. Two reference sequences completed the dataset. Overall, 206 variations were found in the full set of 30 sequences, of which 23 were protein-coding non-synonymous single nucleotide substitutions. Many polymorphic sites within Hg A were informative for the reconstruction of its internal phylogeny. Bayesian and network clustering revealed a general similarity over the entire molecule of sequences previously assigned to the same D-loop clade, indicating evolutionarily meaningful lineages. Two major sister groupings emerged within Hg A, which parallel distinct geographical distributions of D-loop clades in extant stocks. The pattern of variation in protein-coding genes revealed an overwhelming role of purifying selection, with the quota of surviving variants approaching neutrality. However, a simple model of relaxation of selection for the bulk of variants here reported should be rejected. Non-synonymous diversity of Hg's A, B and C denoted that a proportion of variants not greater than that allowed in the wild was given the opportunity to spread into domesticated stocks. Our results also confirmed that a remarkable proportion of pre-existing Hg A diversity became incorporated into domestic stocks. Our results confirm clade A11 as a well differentiated and ancient lineage peculiar of Sardinia.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}