Marco Masala

@article{pmid30169833,

title = {Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population},

author = {D Piras and M Masala and A Delitala and S A M Urru and N Curreli and L Balaci and L P Ferreli and F Loi and A Atzeni and G Cabiddu and W Racugno and L Ventura and M Zoledziewska and M Steri and E Fiorillo and M G Pilia and D Schlessinger and F Cucca and A D Rule and A Pani},

year  = {2018},

date = {2018-01-01},

journal = {Nephrol. Dial. Transplant.},

abstract = {The relationship of kidney size to ageing, kidney function and kidney disease risk factors is not fully understood. Ultrasound length and parenchymal kidney volume were determined from a population-based sample of 3972 Sardinians (age range 18-100 years). We then identified the subset of 2256 'healthy' subjects to define age- and sex-specific reference ranges (2.5-97.5 percentile) of kidney volume. Logistic regression (accounting for family clustering) was used to identify the clinical characteristics associated with abnormally large kidneys or abnormally small kidneys. In the healthy subset, kidney volume and length increased up to the fourth to fifth decade of life followed by a progressive decrease in men, whereas there was a gradual kidney volume decrease throughout the lifespan of women. In the whole sample, independent predictors of lower kidney volume (<2.5 percentile for age and sex) were male sex, low body mass index, short height, low waist:hip ratio and high serum creatinine (SCr); the independent predictors of larger kidney volume (>97.5 percentile for age and sex) were younger age, female sex, diabetes, obesity, high height, high waist:hip ratio and lower SCr. Estimated heritability for kidney volume was 15%, and for length 27%; kidney volume correlated strongly with birthweight. Overall, in a general healthy population, kidney measures declined with age differently in men and women. The determinants of kidney parenchymal volume include genetic factors and modifiable clinical factors.},

note = {[DOI:hrefhttps://dx.doi.org/10.1093/ndt/gfy27010.1093/ndt/gfy270] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3016983330169833]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Pani2014,

title = {Prevalence of CKD and its relationship to eGFR-related genetic loci and clinical risk factors in the SardiNIA study cohort.},

author = {Pani, Antonello and Bragg-Gresham, Jennifer and Masala, Marco and Piras, Doloretta and Atzeni, Alice and Pilia, Maria G and Ferreli, Liana and Balaci, Lenuta and Curreli, Nicol{ò} and Delitala, Alessandro and Loi, Francesco and Abecasis, Gon{ç}alo R and Schlessinger, David and Cucca, Francesco},

url = {http://www.jasn.org/cgi/doi/10.1681/ASN.2013060591 http://www.ncbi.nlm.nih.gov/pubmed/24511125 http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC4073426},

doi = {10.1681/ASN.2013060591},

issn = {1533-3450},

year  = {2014},

date = {2014-07-01},

journal = {Journal of the American Society of Nephrology : JASN},

volume = {25},

number = {7},

pages = {1533--44},

abstract = {The prevalence of CKD and of renal failure vary worldwide, yet parallel increases in leading risk factors explain only part of the differential prevalence. We measured CKD prevalence and eGFR, and their relationship with traditional and additional risk factors, in a Sardinian founder population cohort. The eGFR was calculated using equations from the CKD Epidemiology Collaboration and Modification of Diet in Renal Disease studies. With use of the Kidney Disease Improving Global Outcomes guidelines, a cross-sectional analysis of 4842 individuals showed that CKD prevalence was 15.1%, including 3.6% of patients in the high-risk and 0.46% in the very-high-risk categories. Longitudinal analyses performed on 4074 of these individuals who completed three visits with an average follow-up of 7 years revealed that, consistent with other populations, average eGFR slope was -0.79 ml/min per 1.73 m(2) per year, but 11.4% of the participants had an eGFR decline >2.3 ml/min per 1.73 m(2) per year (fast decline). A genetic score was generated from 13 reported eGFR- and CKD-related loci, and univariable and multivariable analyses were applied to assess the relationship between clinical, ultrasonographic, and genetic variables with three outcomes: CKD, change in eGFR, and fast eGFR decline. Genetic risk score, older age, and female sex independently correlated with each outcome. Diabetes was associated with CKD prevalence, whereas hypertension and hyperuricemia correlated more strongly with fast eGFR decline. Diabetes, hypertension, hyperuricemia, and high baseline eGFR were associated with a decline of eGFR. Along with differential health practices, population variations in this spectrum of risk factors probably contributes to the variable CKD prevalence worldwide.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{rietveld_gwas_2013,

title = {GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.},

author = {Rietveld, Cornelius A. and Medland, Sarah E. and Derringer, Jaime and Yang, Jian and Esko, Tonu and Martin, Nicolas W. and Westra, Harm-Jan and Shakhbazov, Konstantin and [...] and Cucca, Francesco and de Andrade, Mariza and De Jager, Philip L. and De Neve, Jan-Emmanuel and Deary, Ian J. and Dedoussis, George V. and Deloukas, Panos and Dimitriou, Maria and Eiriksdottir, Guethny and Elderson, Martin F. and Eriksson, Johan G. and Evans, David M. and Faul, Jessica D. and Ferrucci, Luigi and Garcia, Melissa E. and Gronberg, Henrik and Guethnason, Vilmundur and Hall, Per and Harris, Juliette M. and Harris, Tamara B. and Hastie, Nicholas D. and Heath, Andrew C. and Hernandez, Dena G. and Hoffmann, Wolfgang and Hofman, Adriaan and Holle, Rolf and Holliday, Elizabeth G. and Hottenga, Jouke-Jan and Iacono, William G. and Illig, Thomas and Jarvelin, Marjo-Riitta and Kahonen, Mika and Kaprio, Jaakko and Kirkpatrick, Robert M. and Kowgier, Matthew and Latvala, Antti and Launer, Lenore J. and Lawlor, Debbie A. and Lehtimaki, Terho and Li, Jingmei and Lichtenstein, Paul and Lichtner, Peter and Liewald, David C. and Madden, Pamela A. and Magnusson, Patrik K. E. and Makinen, Tomi E. and Masala, Marco and McGue, Matt and Metspalu, Andres and Mielck, Andreas and Miller, Michael B. and Montgomery, Grant W. and Mukherjee, Sutapa and Nyholt, Dale R. and Oostra, Ben A. and Palmer, Lyle J. and Palotie, Aarno and Penninx, Brenda W. J. H. and Perola, Markus and Peyser, Patricia A. and Preisig, Martin and Raikkonen, Katri and Raitakari, Olli T. and Realo, Anu and Ring, Susan M. and Ripatti, Samuli and Rivadeneira, Fernando and Rudan, Igor and Rustichini, Aldo and Salomaa, Veikko and Sarin, Antti-Pekka and Schlessinger, David and Scott, Rodney J. and Snieder, Harold and St Pourcain, Beate and Starr, John M. and Sul, Jae Hoon and Surakka, Ida and Svento, Rauli and Teumer, Alexander and Tiemeier, Henning and van Rooij, Frank J. A. and Van Wagoner, David R. and Vartiainen, Erkki and Viikari, Jorma and Vollenweider, Peter and Vonk, Judith M. and Waeber, Gerard and Weir, David R. and Wichmann, H.-Erich and Widen, Elisabeth and Willemsen, Gonneke and Wilson, James F. and Wright, Alan F. and Conley, Dalton and Davey-Smith, George and Franke, Lude and Groenen, Patrick J. F. and Hofman, Albert and Johannesson, Magnus and Kardia, Sharon L. R. and Krueger, Robert F. and Laibson, David and Martin, Nicholas G. and Meyer, Michelle N. and Posthuma, Danielle and Thurik, A. Roy and Timpson, Nicholas J. and Uitterlinden, Andre G. and van Duijn, Cornelia M. and Visscher, Peter M. and Benjamin, Daniel J. and Cesarini, David and Koellinger, Philipp D.},

doi = {10.1126/science.1235488},

issn = {1095-9203 0036-8075},

year  = {2013},

date = {2013-01-01},

journal = {Science},

volume = {340},

number = {6139},

pages = {1467--1471},

abstract = {A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (coefficient of determination R(2) approximately 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for approximately 2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{tolea_sex-specific_2010,

title = {Sex-specific correlates of walking speed in a wide age-ranged population.},

author = {Tolea, Magdalena I. and Costa, Paul T. and Terracciano, Antonio and Griswold, Michael and Simonsick, Eleanor M. and Najjar, Samer S. and Scuteri, Angelo and Deiana, Barbara and Orru, Marco and Masala, Marco and Uda, Manuela and Schlessinger, David and Ferrucci, Luigi},

doi = {10.1093/geronb/gbp130},

issn = {1758-5368 1079-5014},

year  = {2010},

date = {2010-01-01},

journal = {J Gerontol B Psychol Sci Soc Sci},

volume = {65B},

number = {2},

pages = {174--184},

abstract = {The goals of this cross-sectional study were to explore correlates of walking speed in a large wide age-ranged population and to identify factors affecting lower walking speed at older ages. Participants were 3,872 community-dwelling adults in the first follow-up of the SardiNIA study who completed a 4-m walking test. Sex-specific correlates of walking speed included marital status, height, waist circumference, pulse wave velocity, comorbidity, subjective health, strength, and personality. Effect modifiers of the age-walking speed association included extraversion (textless55 years},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{sanna_common_2009,

title = {Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia},

author = {Serena Sanna and Fabio Busonero and Andrea Maschio and Patrick F McArdle and Gianluca Usala and Mariano Dei and Sandra Lai and Antonella Mulas and Maria Grazia Piras and Lucia Perseu and Marco Masala and Mara Marongiu and Laura Crisponi and Silvia Naitza and Renzo Galanello and Gon{ç}alo R Abecasis and Alan R Shuldiner and David Schlessinger and Antonio Cao and Manuela Uda},

doi = {10.1093/hmg/ddp203},

issn = {1460-2083},

year  = {2009},

date = {2009-07-01},

journal = {Human Molecular Genetics},

volume = {18},

number = {14},

pages = {2711--2718},

abstract = {Bilirubin, resulting largely from the turnover of hemoglobin, is found in the plasma in two main forms: unconjugated or conjugated with glucuronic acid. Unconjugated bilirubin is transported into hepatocytes. There, it is glucuronidated by UGT1A1 and secreted into the bile canaliculi. We report a genome wide association scan in 4300 Sardinian individuals for total serum bilirubin levels. In addition to the two known loci previously involved in the regulation of bilirubin levels, UGT1A1 (P = 6.2 x 10(-62)) and G6PD (P = 2.5 x 10(-8)), we observed a strong association on chromosome 12 within the SLCO1B3 gene (P = 3.9 x 10(-9)). Our findings were replicated in an independent sample of 1860 Sardinians and in 832 subjects from the Old Order Amish (combined P textless 5 x 10(-14)). We also show that SLC01B3 variants contribute to idiopathic mild unconjugated hyperbilirubinemia. Thus, SLC01B3 appears to be involved in the regulation of serum bilirubin levels in healthy individuals and in some bilirubin-related disorders that are only partially explained by other known gene variants.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pilia_heritability_2006,

title = {Heritability of cardiovascular and personality traits in 6,148 Sardinians.},

author = {Pilia, Giuseppe and Chen, Wei-Min and Scuteri, Angelo and Orru, Marco and Albai, Giuseppe and Dei, Mariano and Lai, Sandra and Usala, Gianluca and Lai, Monica and Loi, Paola and Mameli, Cinzia and Vacca, Loredana and Deiana, Manila and Olla, Nazario and Masala, Marco and Cao, Antonio and Najjar, Samer S. and Terracciano, Antonio and Nedorezov, Timur and Sharov, Alexei and Zonderman, Alan B. and Abecasis, Goncalo R. and Costa, Paul and Lakatta, Edward and Schlessinger, David},

doi = {10.1371/journal.pgen.0020132},

issn = {1553-7404 1553-7390},

year  = {2006},

date = {2006-01-01},

journal = {PLoS Genet},

volume = {2},

number = {8},

pages = {e132},

abstract = {In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance in young and old, and in males and females. In summary, we find significant evidence for heritability of many medically important traits, including cardiovascular function and personality. Evidence for heterogeneity by age and sex suggests that models allowing for these differences will be important in mapping quantitative traits.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}