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4. Poor R-wave progression as a predictor of sudden cardiac death in the general population and subjects with coronary artery disease

Author

Schröder, L. C. (Linda C.), Holkeri, A. (Arttu), Eranti, A. (Antti), Haukilahti, M. A. (M. Anette E.), Kerola, T. (Tuomas), Kenttä, T. V. (Tuomas V.), Noponen, K. (Kai), Seppänen, T. (Tapio), Rissanen, H. (Harri), Heliövaara, M. (Markku), Knekt, P. (Paul), Junttila, M. J. (M. Juhani), Huikuri, H. V. (Heikki V.), and Aro, A. L. (Aapo L.)

Subjects
Electrocardiography, Sudden cardiac death, Epidemiology, R-wave, Coronary artery disease
Abstract

Background: Poor R-wave progression (PRWP) is a common clinical finding on the standard 12-lead electrocardiogram (ECG), but its prognostic significance is unclear. Objective: The purpose of this study was to examine the prognosis associated with PRWP in terms of sudden cardiac death (SCD), cardiac death, and all-cause mortality in general population subjects with and without coronary artery disease (CAD). Methods: Data and 12-lead ECGs were collected from a Finnish general population health examination survey conducted during 1978–1980 with follow-up until 2011. The study population consisted of 6854 subjects. Main end points were SCD, cardiac death, and all-cause mortality. PRWP was defined as R-wave amplitude ≤ 0.3 mV in lead V₃ and R-wave amplitude in lead V₂ ≤ R-wave amplitude in lead V₃. Results: PRWP occurred in 213 subjects (3.1%). During the follow-up period of 24.3 ± 10.4 years, 3723 subjects (54.3%) died. PRWP was associated with older age, higher prevalence of heart failure and CAD, and β-blocker medication. In multivariate analyses, PRWP was associated with SCD (hazard ratio [HR] 2.13; 95% confidence interval [CI] 1.34–3.39), cardiac death (HR 1.75; 95% CI 1.35–2.15), and all-cause mortality (HR 1.29; 95% CI 1.08–1.54). In the subgroup with CAD, PRWP had a stronger association with cardiac mortality (HR 1.71; 95% CI 1.19–2.46) than in the subgroup without CAD, while the association with SCD was significant only in the subgroup with CAD (HR 2.62; 95% CI 1.38–4.98). Conclusions: PRWP was associated with adverse prognosis in the general population and with SCD in subjects with CAD.

Published
2022

7. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author

Law, PJ, Timofeeva, M, Fernandez-Rozadilla, C, Broderick, P, Studd, J, Fernandez-Tajes, J, Farrington, S, Svinti, V, Palles, C, Orlando, G, Sud, A, Holroyd, A, Penegar, S, Theodoratou, E, Vaughan-Shaw, P, Campbell, H, Zgaga, L, Hayward, C, Campbell, A, Harris, S, Deary, IJ, Starr, J, Gatcombe, L, Pinna, M, Briggs, S, Martin, L, Jaeger, E, Sharma-Oates, A, East, J, Leedham, S, Arnold, R, Johnstone, E, Wang, H, Kerr, D, Kerr, R, Maughan, T, Kaplan, R, Al-Tassan, N, Palin, K, Hänninen, UA, Cajuso, T, Tanskanen, T, Kondelin, J, Kaasinen, E, Sarin, A-P, Eriksson, JG, Rissanen, H, Knekt, P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Renkonen-Sinisalo, L, Lepistö, A, Böhm, J, Mecklin, J-P, Buchanan, DD, Win, A-K, Hopper, J, Jenkins, ME, Lindor, NM, Newcomb, PA, Gallinger, S, Duggan, D, Casey, G, Hoffmann, P, Nöthen, MM, Jöckel, K-H, Easton, DF, Pharoah, PDP, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Consortium, Practical, Harkin, A, Allan, K, McQueen, J, Paul, J, Iveson, T, Saunders, M, Butterbach, K, Chang-Claude, J, Hoffmeister, M, Brenner, H, Kirac, I, Matošević, P, Hofer, P, Brezina, S, Gsur, A, Cheadle, JP, Aaltonen, LA, Tomlinson, I, Houlston, RS, Dunlop, MG, Law, Philip J [0000-0001-9663-4611], Timofeeva, Maria [0000-0002-2503-4253], Fernandez-Rozadilla, Ceres [0000-0001-7330-4804], Broderick, Peter [0000-0002-8348-5829], Studd, James [0000-0002-7157-754X], Farrington, Susan [0000-0001-5955-7389], Svinti, Victoria [0000-0001-9926-0416], Sud, Amit [0000-0002-6133-0164], Hayward, Caroline [0000-0002-9405-9550], Campbell, Archie [0000-0003-0198-5078], Martin, Lynn [0000-0003-3962-389X], East, James [0000-0001-8035-3700], Kaplan, Richard [0000-0002-0189-8348], Al-Tassan, Nada [0000-0001-9076-0334], Palin, Kimmo [0000-0002-4621-6128], Salomaa, Veikko [0000-0001-7563-5324], Buchanan, Daniel D [0000-0003-2225-6675], Win, Aung-Ko [0000-0002-2794-5261], Jenkins, Mark E [0000-0002-8964-6160], Easton, Douglas F [0000-0003-2444-3247], Pharoah, Paul DP [0000-0001-8494-732X], Eeles, Rosalind A [0000-0002-3698-6241], Muir, Kenneth [0000-0001-6429-988X], Pashayan, Nora [0000-0003-0843-2468], Harkin, Andrea [0000-0002-8831-7381], Paul, James [0000-0001-7367-5816], Hofer, Philipp [0000-0003-2550-6019], Brezina, Stefanie [0000-0001-5238-6900], Cheadle, Jeremy P [0000-0001-9453-8458], Tomlinson, Ian [0000-0003-3037-1470], Houlston, Richard S [0000-0002-5268-0242], and Apollo - University of Cambridge Repository

Subjects
Male, Science, Inheritance Patterns, cancer genetics, Datasets as Topic, colorectal cancer, Genome-wide association studies, Polymorphism, Single Nucleotide, Article, White People, Asian People, Risk Factors, Cancer genomics, Humans, Genetic Predisposition to Disease, lcsh:Science, Cancer genetics, neoplasms, cancer genomics, genomiikka, Middle Aged, Colorectal cancer, digestive system diseases, peräsuolisyöpä, syöpägeenit, Genetic Loci, Case-Control Studies, genome-wide association studies, lcsh:Q, syöpätaudit, Female, Colorectal Neoplasms, Genome-Wide Association Study
Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention., In colorectal cancer (CRC), finding loci associated with risk may give insight into disease aetiology. Here, the authors report a genome-wide association analysis in Europeans of 34,627 CRC cases and 71,379 controls, and find 31 new risk loci and 17 new risk SNPs at previously reported loci.

Published
2019

8. Electrocardiographic risk markers of cardiac death:gender differences in the general population

Author

Haukilahti, M. A. (Mira Anette E.), Kenttä, T. V. (Tuomas V.), Tikkanen, J. T. (Jani T.), Anttonen, O. (Olli), Aro, A. L. (Aapo L.), Kerola, T. (Tuomas), Eranti, A. (Antti), Holkeri, A. (Arttu), Rissanen, H. (Harri), Heliövaara, M. (Markku), Knekt, P. (Paul), Junttila, M. J. (M. Juhani), and Huikuri, H. V. (Heikki V.)

Subjects
T wave inversion, ECG, gender differences, cardiovascular diseases, prolonged QRS, sudden cardiac death, cardiac death, left ventricular hypertrophy
Abstract

Background: Cardiac death is one of the leading causes of death and sudden cardiac death (SCD) is estimated to cause approximately 50% of cardiac deaths. Men have a higher cardiac mortality than women. Consequently, the mechanisms and risk markers of cardiac mortality are not as well defined in women as they are in men. Aim: The aim of the study was to assess the prognostic value and possible gender differences of SCD risk markers of standard 12-lead electrocardiogram in three large general population samples. Methods: The standard 12-lead electrocardiographic (ECG) markers were analyzed from three different Finnish general population samples including total of 20,310 subjects (49.9% women, mean age 44.8 ± 8.7 years). The primary endpoint was cardiac death, and SCD and all-cause mortality were secondary endpoints. The interaction effect between women and men was assessed for each ECG variable. Results: During the follow-up (7.7 ± 1.2 years), a total of 883 deaths occurred (24.5% women, p < 0.001). There were 296 cardiac deaths (13.9% women, p < 0.001) and 149 SCDs (14.8% women, p < 0.001). Among those who had died due to cardiac cause, women had more often a normal electrocardiogram compared to men (39.0 vs. 27.5%, p = 0.132). After adjustments with common cardiovascular risk factors and the population sample, the following ECG variables predicted the primary endpoint in men: left ventricular hypertrophy (LVH) with strain pattern (p < 0.001), QRS duration > 110 ms (p < 0.001), inferior or lateral T-wave inversion (p < 0.001) and inferolateral early repolarization (p = 0.033). In women none of the variables remained significant predictors of cardiac death in multivariable analysis, but LVH, QTc ≥ 490 ms and T-wave inversions predicted SCD (p < 0.047 and 0.033, respectively). In the interaction analysis, LVH (HR: 2.4; 95% CI: 1.2–4.9; p = 0.014) was stronger predictor of primary endpoint in women than in men. Conclusion: Several standard ECG variables provide independent information on the risk of cardiac mortality in men but not in women. LVH and T-wave inversions predict SCD also in women.

Published
2021

11. Impact of age and sex on the long-term prognosis associated with early repolarization in the general population

Author

Holkeri, A. (Arttu), Eranti, A. (Antti), Haukilahti, M. A. (M. Anette E.), Kerola, T. (Tuomas), Kenttä, T. V. (Tuomas V.), Tikkanen, J. T. (Jani T.), Rissanen, H. (Harri), Heliövaara, M. (Markku), Knekt, P. (Paul), Junttila, M. J. (M. Juhani), Aro, A. L. (Aapo L.), and Huikuri, H. V. (Heikki V.)

Subjects
Electrocardiography, Sudden cardiac death, Early repolarization, Epidemiology, Age groups
Abstract

Background: Early repolarization (ER) has been linked to the risk of sudden cardiac death (SCD) in the general population, although controversy remains regarding risks across various subgroups. Objective: The purpose of this study was to investigate whether age and sex influence the prognostic significance of ER. Methods: We evaluated the 12-lead electrocardiograms of 6631 Finnish general population subjects age ≥30 years (mean age 50.1 ± 13.9 years; 44.5% men) for the presence of ER (J-point elevation ≥0.1 mV in ≥2 inferior/lateral leads) and followed them for 24.4 ± 10.3 years. We analyzed the association between ER and the risk of SCD, cardiac death, and all-cause mortality in subgroups according to age (

Published
2020

12. Electrocardiographic risk markers for heart failure in women versus men

Author

Haukilahti, M. A. (Mira Anette E.), Kenttä, T. V. (Tuomas V.), Tikkanen, J. T. (Jani T.), Anttonen, O. (Olli), Aro, A. L. (Aapo L.), Kerola, T. (Tuomas), Rissanen, H. (Harri), Knekt, P. (Paul), Junttila, M. J. (M. Juhani), and Huikuri, H. V. (Heikki V.)

Subjects
cardiovascular diseases
Abstract

Heart failure (HF) is one of the leading causes of hospitalization in the Western world. Women have a lower HF hospitalization rate and mortality compared with men. The role of electrocardiography as a risk marker of future HF in women is not well known. We studied association of electrocardiographic (ECG) risk factors for HF hospitalization in women from a large middle-aged general population with a long-term follow-up and compared the risk profile to men. Standard 12-lead ECG markers were analyzed from 10,864 subjects (49% women), and their predictive value for HF hospitalization was analyzed. During the follow-up (30 ± 11 years), a total of 1,743 subjects had HF hospitalization; of these, 861 were women (49%). Several baseline characteristics, such as age, body mass index, blood pressure, and history of previous cardiac disease predicted the occurrence of HF both in women and men (p

Published
2020

15. 3056Orthogonal P wave morphology, traditional P wave indices, and the risk of atrial fibrillation in the general population

Author

Eranti, A, primary, Carlson, J, additional, Kentta, T V, additional, Holmqvist, F, additional, Holkeri, A, additional, Haukilahti, M A, additional, Kerola, T, additional, Aro, A L, additional, Rissanen, H, additional, Noponen, K, additional, Seppanen, T, additional, Knekt, P, additional, Huikuri, H V, additional, Junttila, M J, additional, and Platonov, P G, additional

Published
2019
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18. P6588Impact of age and sex on the long-term prognosis associated with early repolarization in the general population

Author

Holkeri, A K, primary, Eranti, A, additional, Haukilahti, M A, additional, Kerola, T, additional, Kentta, T V, additional, Tikkanen, J T, additional, Noponen, K, additional, Seppanen, T, additional, Rissanen, H, additional, Heliovaara, M, additional, Knekt, P, additional, Junttila, M J, additional, Aro, A L, additional, and Huikuri, H V, additional

Published
2019
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20. Risk factors associated with atrioventricular block

Author

Kerola, T. (Tuomas), Eranti, A. (Antti), Aro, A. L. (Aapo L.), Haukilahti, M. A. (M. Anette), Holkeri, A. (Arttu), Junttila, M. J. (M. Juhani), Kenttä, T. V. (Tuomas V.), Rissanen, H. (Harri), Vittinghoff, E. (Eric), Knekt, P. (Paul), Heliövaara, M. (Markku), Huikuri, H. V. (Heikki V.), and Marcus, G. M. (Gregory M.)

Abstract

Importance: Pacemaker implantations as a treatment for atrioventricular (AV) block are increasing worldwide. Prevention strategies for AV block are lacking because modifiable risk factors have not yet been identified. Objective: To identify risk factors for AV block in community-dwelling individuals. Design, Setting, and Participants: In this population-based cohort study, data from the Mini-Finland Health Survey, conducted from January 1, 1978, to December 31, 1980, were used to examine demographics, comorbidities, habits, and laboratory and electrocardiographic (ECG) measurements as potential risk factors for incident AV block. Data were ascertained during follow-up from January 1, 1987, through December 31, 2011, using a nationwide registry. A total of 6146 community-dwelling individuals were included in the analysis performed from January 15 through April 3, 2018. Main Outcomes and Measures: Incidence of AV block (hospitalization for second- or third-degree AV block). Results: Among the 6146 participants (3449 [56.1%] women; mean [SD] age, 49.2 [12.9] years), 529 (8.6%) had ECG evidence of conduction disease and 58 (0.9%) experienced a hospitalization with AV block. Older age (hazard ratio [HR] per 5-year increment, 1.34; 95% CI, 1.16–1.54; P

Published
2019

25. Circulating sex hormones in relation to anthropometric, sociodemographic and behavioural factors in an international dataset of 12,300 men

Author

Watts, EL, Appleby, PN, Albanes, D, Black, A, Chan, JM, Chen, C, Cirillo, PM, Cohn, BA, Cook, MB, Donovan, JL, Ferrucci, L, Garland, CF, Giles, GG, Goodman, PJ, Habel, LA, Haiman, CA, Holly, JMP, Hoover, RN, Kaaks, R, Knekt, P, Kolonel, LN, Kubo, T, Le Marchand, L, Luostarinen, T, Macinnis, RJ, Mäenpää, HO, Männistö, S, Metter, EJ, Milne, RL, Nomura, AMY, Oliver, SE, Parsons, JK, Peeters, PH, Platz, EA, Riboli, E, Ricceri, F, Rinaldi, S, Rissanen, H, Sawada, N, Schaefer, CA, Schenk, JM, Stanczyk, FZ, Stampfer, M, Stattin, P, Stenman, U-H, Tjønneland, A, Trichopoulou, A, Thompson, IM, Tsugane, S, Vatten, L, Whittemore, AS, Ziegler, RG, Allen, NE, Key, TJ, Travis, RC, and Hu, C

Abstract

Introduction Sex hormones have been implicated in the etiology of a number of diseases. To better understand disease etiology and the mechanisms of disease-risk factor associations, this analysis aimed to investigate the associations of anthropometric, sociodemographic and behavioural factors with a range of circulating sex hormones and sex hormone-binding globulin. Methods Statistical analyses of individual participant data from 12,330 male controls aged 25±85 years from 25 studies involved in the Endogenous Hormones Nutritional Biomarkers and Prostate Cancer Collaborative Group. Analysis of variance was used to estimate geometric means adjusted for study and relevant covariates. Results Older age was associated with higher concentrations of sex hormone-binding globulin and dihydrotestosterone and lower concentrations of dehydroepiandrosterone sulfate, free testosterone, androstenedione, androstanediol glucuronide and free estradiol. Higher body mass index was associated with higher concentrations of free estradiol, androstanediol glucuronide, estradiol and estrone and lower concentrations of dihydrotestosterone, testosterone, sex hormone-binding globulin, free testosterone, androstenedione and dehydroepiandrosterone sulfate. Taller height was associated with lower concentrations of androstenedione, testosterone, free testosterone and sex hormone-binding globulin and higher concentrations of androstanediol glucuronide. Current smoking was associated with higher concentrations of androstenedione, sex hormone-binding globulin and testosterone. Alcohol consumption was associated with higher concentrations of dehydroepiandrosterone sulfate, androstenedione and androstanediol glucuronide. East Asians had lower concentrations of androstanediol glucuronide and African Americans had higher concentrations of estrogens. Education and marital status were modestly associated with a small number of hormones. Conclusion Circulating sex hormones in men are strongly associated with age and body mass index, and to a lesser extent with smoking status and alcohol consumption.

Published
2017

26. Associations of tissue transglutaminase antibody seropositivity with coronary heart disease: Findings from a prospective cohort study

Author

Heikkilä, K, Rissanen, H, Heliövaara, M, Knekt, P, Mäki, M, and Kaukinen, K

Subjects
cardiovascular diseases
Abstract

BACKGROUND AND AIMS: Clinical experience and observational studies suggest that individuals with coeliac disease are at increased risk of coronary heart disease (CHD), but the precise mechanism for this is unclear. Laboratory studies suggest that it may relate to tissue transglutaminase antibodies (tTGAs). Our aim was to examine whether seropositivity for tTGA and endomysial antibodies (EMAs) are associated with incident CHD in humans. METHODS AND RESULTS: We used data from Mini-Finland Health Survey, a prospective cohort study of Finnish men and women aged 35-80 at study baseline 1978-80. TTGA and EMA seropositivities were ascertained from baseline blood samples and incident CHD events were identified from national hospitalisation and death registers. Cox regression was used to examine the associations between antibody seropositivity and incident CHD. Of 6887 men and women, 562 were seropositive for tTGAs and 72 for EMAs. During a median follow-up of 26 years, 2367 individuals experienced a CHD event. We found no clear evidence for an association between tTGA positivity (hazard ratio, HR: 1.04, 95% confidence interval, CI: 0.83, 1.30) or EMA positivity (HR: 1.16, 95% CI: 0.77, 1.74) and incident CHD, once pre-existing CVD and known CHD risk factors had been adjusted for. CONCLUSION: We found no clear evidence for an association of tTGA or EMA seropositivity with incident CHD outcomes, suggesting that tTG autoimmunity is unlikely to be the biological link between coeliac disease and CHD.

Published
2017

27. Circulating sex hormones in relation to anthropometric, sociodemographic and behavioural factors in an international dataset of 12,300 men

Author

Watts, E.L. Appleby, P.N. Albanes, D. Black, A. Chan, J.M. Chen, C. Cirillo, P.M. Cohn, B.A. Cook, M.B. Donovan, J.L. Ferrucci, L. Garland, C.F. Giles, G.G. Goodman, P.J. Habel, L.A. Haiman, C.A. Holly, J.M.P. Hoover, R.N. Kaaks, R. Knekt, P. Kolonel, L.N. Kubo, T. Le Marchand, L. Luostarinen, T. MacInnis, R.J. Mäenpää, H.O. Männistö, S. Metter, E.J. Milne, R.L. Nomura, A.M.Y. Oliver, S.E. Parsons, J.K. Peeters, P.H. Platz, E.A. Riboli, E. Ricceri, F. Rinaldi, S. Rissanen, H. Sawada, N. Schaefer, C.A. Schenk, J.M. Stanczyk, F.Z. Stampfer, M. Stattin, P. Stenman, U.-H. Tjønneland, A. Trichopoulou, A. Thompson, I.M. Tsugane, S. Vatten, L. Whittemore, A.S. Ziegler, R.G. Allen, N.E. Key, T.J. Travis, R.C.

Abstract

Introduction Sex hormones have been implicated in the etiology of a number of diseases. To better understand disease etiology and the mechanisms of disease-risk factor associations, this analysis aimed to investigate the associations of anthropometric, sociodemographic and behavioural factors with a range of circulating sex hormones and sex hormone-binding globulin. Methods Statistical analyses of individual participant data from 12,330 male controls aged 25–85 years from 25 studies involved in the Endogenous Hormones Nutritional Biomarkers and Prostate Cancer Collaborative Group. Analysis of variance was used to estimate geometric means adjusted for study and relevant covariates. Results Older age was associated with higher concentrations of sex hormone-binding globulin and dihydrotestosterone and lower concentrations of dehydroepiandrosterone sulfate, free testosterone, androstenedione, androstanediol glucuronide and free estradiol. Higher body mass index was associated with higher concentrations of free estradiol, androstanediol glucuronide, estradiol and estrone and lower concentrations of dihydrotestosterone, testosterone, sex hormone-binding globulin, free testosterone, androstenedione and dehydroepiandrosterone sulfate. Taller height was associated with lower concentrations of androstenedione, testosterone, free testosterone and sex hormone-binding globulin and higher concentrations of androstanediol glucuronide. Current smoking was associated with higher concentrations of androstenedione, sex hormone-binding globulin and testosterone. Alcohol consumption was associated with higher concentrations of dehydroepiandrosterone sulfate, androstenedione and androstanediol glucuronide. East Asians had lower concentrations of androstanediol glucuronide and African Americans had higher concentrations of estrogens. Education and marital status were modestly associated with a small number of hormones. Conclusion Circulating sex hormones in men are strongly associated with age and body mass index, and to a lesser extent with smoking status and alcohol consumption. This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.

Published
2017

28. P4456Prognostic significance of electrocardiographic markers of sudden cardiac death differ between men and women

Author

Haukilahti, M A E, primary, Kentta, T V, additional, Aro, A, additional, Porthan, K, additional, Nieminen, M S, additional, Tikkanen, J, additional, Junttila, M J, additional, Rissanen, H, additional, Salomaa, V, additional, Heliovaara, M, additional, Niiranen, T, additional, Hernesniemi, J, additional, Jula, A, additional, Knekt, P, additional, and Huikuri, H V, additional

Published
2018
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30. Prevalence and 11-Year Incidence of Cataract and Cataract Surgery and the Effects of Socio-Demographic and Lifestyle Factors

Author

Purola PKM, Nättinen JE, Ojamo MUI, Rissanen HA, Gissler M, Koskinen SVP, and Uusitalo HMT

Subjects
operated cataract, operation age, population study, smoking, alcohol consumption, living habits, Ophthalmology, RE1-994
Abstract

Petri KM Purola,1,2 Janika E Nättinen,1 Matti UI Ojamo,2 Harri A Rissanen,3 Mika Gissler,4– 6 Seppo VP Koskinen,3 Hannu MT Uusitalo1,2,7 1Department of Ophthalmology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; 2Finnish Register of Visual Impairment, Finnish Federation of the Visually Impaired, Helsinki, Finland; 3Information Services Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland; 4Department of Knowledge Brokers, Finnish Institute for Health and Welfare, Helsinki, Finland; 5Region Stockholm, Academic Primary Health Care Centre, Stockholm, Sweden; 6Karolinska Institute, Department of Molecular Medicine and Surgery, Stockholm, Sweden; 7Tays Eye Center, Tampere University Hospital, Tampere, FinlandCorrespondence: Petri KM Purola, Department of Ophthalmology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland, Tel/Fax +358 400 695309, Email petri.purola@tuni.fiPurpose: To assess the impact of cataract in ageing population by evaluating the prevalence, incidence, and background factors of cataract and cataract surgery.Patients and Methods: Two health examination surveys representing Finnish population in 2000 and 2011 included 7380 and 5930 participants aged 30 years or older with cataract status known. An 11-year follow-up included 4840 persons who participated in both the surveys. The data include information on physician-made diagnoses, socio-demographic factors, and lifestyle factors based on self-reported assessment. Cataract diagnoses and surgeries recorded in the Finnish Care Register for Health Care were linked to the survey data. Cataract patients were compared to those without cataract using logistic regression. Differences in cataract surgery age were evaluated using linear regression. Univariable and multivariable models were included.Results: During 2000– 2011, the prevalence of cataract increased from 8.8% to 13.6% and cataract surgery from 5.7% to 8.9% in a representative sample of the Finnish adult population. Cataract and cataract surgery were associated with age, smoking, and high alcohol consumption. Cataract was also associated with female gender and low income in 2000, but this association declined during the 11 years. Smoking and high alcohol consumption were associated with younger surgery age.Conclusion: The prevalence of cataract and cataract surgery is increasing with the ageing of the population. The increase in cataract surgery is likely also reflecting the improvements in eye care. The possibility to equally use health-care services throughout a country can reduce the impact of socio-demographic status. Healthy lifestyle delays the development of cataract, whereas smoking and high alcohol consumption are associated with earlier cataract development. Therefore, the availability of cataract services and promotion of healthy lifestyle will be the key to prevent the detrimental effects of cataract on patients and the society in countries where the population is rapidly ageing.Keywords: operated cataract, operation age, population study, smoking, alcohol consumption, living habits

Published
2022

32. Incidence and seroprevalence of tularaemia in Finland, 1995 to 2013 : regional epidemics with cyclic pattern

Author

Rossow, H., Ollgren, J., Hytonen, J., Rissanen, H., Huitu, O., Henttonen, H., Kuusi, M., Vapalahti, O., Veterinary Biosciences, Department of Virology, Medicum, Clinicum, Olli Pekka Vapalahti / Principal Investigator, and Viral Zoonosis Research Unit

Subjects
FRANCISELLA-TULARENSIS, OUTBREAK, INFECTION, SWEDEN, RISK-FACTORS, GERMANY, 3111 Biomedicine, DIAGNOSIS, 413 Veterinary science
Abstract

We studied the incidence of reported tularaemia by year and region and the prevalence of antibodies against Francisella tularensis in the adult general population in Finland. Moreover, we assessed the correlation between vole population cycles and human tularaemia outbreaks. The seroprevalence study made use of serum samples from a nationwide population-based health survey (Health 2000). The samples of 1,045 randomly selected persons, representative for the Finnish population in each region, were screened with an enzyme-linked immunosorbent assay (ELISA) for the presence of IgG antibodies against F. tularensis, and positive results were further confirmed by immunoblotting. A serological response to F. tularensis was found in 2% (95% confidence interval: 1.1-3.5) of the population. Incidence and seroprevalence were highest in the same areas, and vole population peaks clearly preceded tularaemia outbreaks one year later.

Published
2015

33. Metabolic mediators of the effects of body-mass index, overweight, and obesity on coronary heart disease and stroke: A pooled analysis of 97 prospective cohorts with 1·8 million participants

Author

Lu, Y. Hajifathalian, K. Ezzati, M. Woodward, M. Rimm, E.B. Danaei, G. Selmer, R. Strand, B.H. Dobson, A. Hozawa, A. Nozaki, A. Okayama, A. Rodgers, A. Tamakoshi, A. Zhou, B.F. Zhou, B. Yao, C.H. Jiang, C.Q. Gu, D.F. Heng, D. Giles, G.G. Shan, G.L. Whitlock, G. Arima, H. Kim, H.C. Christensen, H. Horibe, H. Maegawa, H. Tanaka, H. Ueshima, H. Zhang, H.Y. Kim, I.S. Suh, I. Fuh, J.L. Lee, J. Woo, J. Xie, J.X. Zhou, J. Hughes, K. Jamrozik, K. Nakachi, K. Sakata, K. Shimamoto, K. Chen, L.Q. Liu, L.S. Hobbs, M. Iida, M. Kagaya, M. Divitini, M.L. Luszcz, M. Nakamura, M. Huang, M.S. Knuiman, M.W. Aoki, N. Norman, P. Sritara, P. Yang, Q.D. Broadhurst, R. Huxley, R. Jackson, R. Norton, R. Ameratunga, S. Ho, S.C. Li, S.C. Jee, S.H. Chew, S.K. Macmahon, S. Choudhury, S.R. Saitoh, S. Yao, S.X. Welborn, T.A. Lam, T.H. Hashimoto, T. Ohkubo, T. Pan, W.-H. Duan, X.F. Fang, X. Wu, X.G. Fang, X.H. Yu, X.H. Li, Y.H. He, Y. Imai, Y. Kita, Y. Kiyohara, Y. Matsutani, Y. Hong, Z. Wu, Z.L. Chen, Z.M. Wu, Z.S. Tang, Z. Li, Z.Z. Parker, E.D. Pereira, M.A. Stevens, J. Panagiotakos, D.B. Pitsavos, C. Attia, J.R. D’este, C.A. Zhang, X. Clays, E. De Bacquer, D.A.O. Van Herck, K. Morrison, H.I. Wang, F. Chuang, S.-Y. Yeh, W.-T. Chen, Z. Smith, M.C. Zhou, M. Wang, W. Zhang, X.-T. Zhao, D. Vollset, S.E. Fuchs, S.C. Fuchs, F.D. Moreira, L.B. Dontas, I.A. Dontas, C.A. Kafatos, A.G. Moschandreas, J. Lanti, M. Menotti, A. Kromhout, D. Jensen, M.K. Overvad, K. Tjonneland, A. Klotsche, J. Wittchen, H.-U. Fischer, S. Hanefeld, M. Schwanebeck, U. Simons, L.A. Simons, J. Bender, R. Matthies, S. Nissinen, A. Tolonen, H.K. Tuomilehto, J. Chaturvedi, N. Fuller, J.H. Soedamah-Muthu, S.S. Kotseva, K. Wood, D.A. Bots, M.L. Moons, K.G.M. Heliovaara, M. Knekt, P.B. Rissanen, H. Ferrie, J.E. Shipley, M.J. Smith, G.D. Johansson, S. Lappas, G. Rosengren, A. Sham, A. Yu, R.H.Y. Hata, J. Ninomiya, T. Hoshide, S. Kario, K. Rastenyte, D. Tamosiunas, A. de Simone, G. Devereux, R.B. Gerdts, E. Colquhoun, D.M. Keech, A.C. Kirby, A.C. Mizuno, K. Nakamura, H. Uchiyama, S. Bassett, J.K. Hodge, A.M. Wilhelmsen, L. Dhaliwal, S.S. Nakamura, Y. Kadota, A. Okamura, T. Sandvei, M.S. Vatten, L.J. Vik, A. Morkedal, B. Romundstad, P.R. Elkind, M.S.V. Gardener, H. Sacco, R.L. Mignano, A. Novo, S. Rizzo, M. Assmann, G. Schulte, H. Lissner, L. Skoog, I. Sundh, V. Marin, A. Medrano, M.J. Hofman, A. Kuningas, M. Stricker, B.H. van der Graaf, Y. Visseren, F.L.J. Lee, J.J.M. Bemelmans, W. de Groot, L.C.P.G.M. de Hollander, E.L. Adachi, H. Hirai, Y. Azizi, F. Hadaegh, F. Khalili, D. Mathiesen, E.B. Njolstad, I. Wilsgaard, T. Can, G. Onat, A. Arnlov, J. Sundstrom, J. Blackburn, H.W. Jacobs, D.R. Averna, M.R. Cefalu, A.B. Noto, D. Concin, H. Nagel, G. Ulmer, H. Krasnow, R.E. Swan, G.E. Kivimaki, M. David Batty, G. Milic, N. Ostojic, M.C. Parapid, B. Geleijnse, J.M. Waterham, E. Feskens, E.J. The Global Burden of Metabolic Risk Factors for Chronic Diseases Collaboration (BMI Mediated Effects)

Abstract

Background Body-mass index (BMI) and diabetes have increased worldwide, whereas global average blood pressure and cholesterol have decreased or remained unchanged in the past three decades. We quantified how much of the effects of BMI on coronary heart disease and stroke are mediated through blood pressure, cholesterol, and glucose, and how much is independent of these factors. Methods We pooled data from 97 prospective cohort studies that collectively enrolled 1·8 million participants between 1948 and 2005, and that included 57 161 coronary heart disease and 31 093 stroke events. For each cohort we excluded participants who were younger than 18 years, had a BMI of lower than 20 kg/m2, or who had a history of coronary heart disease or stroke. We estimated the hazard ratio (HR) of BMI on coronary heart disease and stroke with and without adjustment for all possible combinations of blood pressure, cholesterol, and glucose. We pooled HRs with a random-effects model and calculated the attenuation of excess risk after adjustment for mediators. Findings The HR for each 5 kg/m2 higher BMI was 1·27 (95% CI 1·23-1·31) for coronary heart disease and 1·18 (1·14-1·22) for stroke after adjustment for confounders. Additional adjustment for the three metabolic risk factors reduced the HRs to 1·15 (1·12-1·18) for coronary heart disease and 1·04 (1·01-1·08) for stroke, suggesting that 46% (95% CI 42-50) of the excess risk of BMI for coronary heart disease and 76% (65-91) for stroke is mediated by these factors. Blood pressure was the most important mediator, accounting for 31% (28-35) of the excess risk for coronary heart disease and 65% (56-75) for stroke. The percentage excess risks mediated by these three mediators did not differ significantly between Asian and western cohorts (North America, western Europe, Australia, and New Zealand). Both overweight (BMI ≥25 to

Published
2014

37. Directional dominance on stature and cognition in diverse human populations

Author

Joshi, P.K., Esko, T., Mattsson, H., Eklund, N., Gandin, I., Nutile, T., Jackson, A.U., Schurmann, C., Smith, A.V., Zhang, W., Okada, Y., Stančáková, A., Faul, J.D., Zhao, W., Bartz, T.M., Concas, M.P., Franceschini, N., Enroth, S., Vitart, V., Trompet, S., Guo, X., Chasman, D.I., O'Connel, J.R., Corre, T., Nongmaithem, S.S., Chen, Y., Mangino, M., Ruggiero, D., Traglia, M., Farmaki, A.E., Kacprowski, T., Bjonnes, A., van der Spek, A., Wu, Y., Giri, A.K., Yanek, L.R., Wang, L., Hofer, E., Rietveld, C.A., McLeod, O., Cornelis, M.C., Pattaro, C., Verweij, N., Baumbach, C., Abdellaoui, A., Warren, H.R., Vuckovic, D., Mei, H., Bouchard, C., Perry, J.R., Cappellani, S., Mirza, S.S., Benton, M.C., Broeckel, U., Medland, S.E., Lind, P.A., Malerba, G., Drong, A., Yengo, L., Bielak, L.F., Zhi, D., van der Most, P.J., Shriner, D., Mägi, R., Hemani, G., Karaderi, T., Wang, Z., Liu, T., Demuth, I., Zhao, J.H., Meng, W., Lataniotis, L., van der Laan, S.W., Bradfield, J.P., Wood, A.R., Bonnefond, A., Ahluwalia, T.S., Hall, L.M., Salvi, E., Yazar, S., Carstensen, L., de Haan, H.G., Abney, M., Afzal, U., Allison, M.A., Amin, N., Asselbergs, F.W., Bakker, S.J., Barr, R.G., Baumeister, S.E., Benjamin, D.J., Bergmann, S., Boerwinkle, E., Bottinger, E.P., Campbell, A., Chakravarti, A., Chan, Y., Chanock, S.J., Chen, C., Chen, Y.D., Collins, F.S., Connell, J., Correa, A., Cupples, L.A., Smith, G.D., Davies, G., Dörr, M., Ehret, G., Ellis, S.B., Feenstra, B., Feitosa, M.F., Ford, I., Fox, C.S., Frayling, T.M., Friedrich, N., Geller, F., Scotland, G., Gillham-Nasenya, I., Gottesman, O., Graff, M., Grodstein, F., Gu, C., Haley, C., Hammond, C.J., Harris, S.E., Harris, T.B., Hastie, N.D., Heard-Costa, N.L., Heikkilä, K., Hocking, L.J., Homuth, G., Hottenga, J.J., Huang, J., Huffman, J.E., Hysi, P.G., Ikram, M.A., Ingelsson, E., Joensuu, A., Johansson, Å., Jousilahti, P., Jukema, J.W., Kähönen, M., Kamatani, Y., Kanoni, S., Kerr, S.M., Khan, N.M., Koellinger, P., Koistinen, H.A., Kooner, M.K., Kubo, M., Kuusisto, J., Lahti, J., Launer, L.J., Lea, R.A., Lehne, B., Lehtimäki, T., Liewald, D.C., Lind, L., Loh, M., Lokki, M.L., London, S.J., Loomis, S.J., Loukola, A., Lu, Y., Lumley, T., Lundqvist, A., Männistö, S., Marques-Vidal, P., Masciullo, C., Matchan, A., Mathias, R.A., Matsuda, K., Meigs, J.B., Meisinger, C., Meitinger, T., Menni, C., Mentch, F.D., Mihailov, E., Milani, L., Montasser, M.E., Montgomery, G.W., Morrison, A., Myers, R.H., Nadukuru, R., Navarro, P., Nelis, M., Nieminen, M.S., Nolte, I.M., O'Connor, G.T., Ogunniyi, A., Padmanabhan, S., Palmas, W.R., Pankow, J.S., Patarcic, I., Pavani, F., Peyser, P.A., Pietilainen, K., Poulter, N., Prokopenko, I., Ralhan, S., Redmond, P., Rich, S.S., Rissanen, H., Robino, A., Rose, L.M., Rose, R., Sala, C., Salako, B., Salomaa, V., Sarin, A.P., Saxena, R., Schmidt, H., Scott, L.J., Scott, W.R., Sennblad, B., Seshadri, S., Sever, P., Shrestha, S., Smith, B.H., Smith, J.A., Soranzo, N., Sotoodehnia, N., Southam, L., Stanton, A.V., Stathopoulou, M.G., Strauch, K., Strawbridge, R.J., Suderman, M.J., Tandon, N., Tang, S.T., Taylor, K.D., Tayo, B.O., Töglhofer, A.M., Tomaszewski, M., T?ernikova N., Tuomilehto, J., Uitterlinden, A.G., Vaidya, D., van Hylckama Vlieg, A., van Setten, J., Vasankari, T., Vedantam, S., Vlachopoulou, E., Vozzi, D., Vuoksimaa, E., Waldenberger, M., Ware, E.B., Wentworth-Shields, W., Whitfield, J.B., Wild, S., Willemsen, G., Yajnik, C.S., Yao, J., Zaza, G., Zhu, X., BioBank Japan, Project, Salem, R.M., Melbye, M., Bisgaard, H., Samani, N.J., Cusi, D., Mackey, D.A., Cooper, R.S., Froguel, P., Pasterkamp, G., Grant, S.F., Hakonarson, H., Ferrucci, L., Scott, R.A., Morris, A.D., Palmer, C.N., Dedoussis, G., Deloukas, P., Bertram, L., Lindenberger, U., Berndt, S.I., Lindgren, C.M., Timpson, N.J., Tönjes, A., Munroe, P.B., Sørensen, T.I., Rotimi, C.N., Arnett, D.K., Oldehinkel, A.J., Kardia, S.L., Balkau, B., Gambaro, G., Morris, A.P., Eriksson, J.G., Wright, M.J., Martin, N.G., Hunt, S.C., Starr, J.M., Deary, I.J., Griffiths, L.R., Tiemeier, H., Pirastu, N., Kaprio, J., Wareham, N.J., Pérusse, L., Wilson, J.G., Girotto, G., Caulfield, M.J., Raitakari, O., Boomsma, D.I., Gieger, C., van der Harst, P., Hicks, A.A., Kraft, P., Sinisalo, J., Knekt, P., Johannesson, M., Magnusson, P.K., Hamsten, A., Schmidt, R., Borecki, I.B., Vartiainen, E., Becker, D.M., Bharadwaj, D., Mohlke, K.L., Boehnke, M., van Duijn, C.M., Sanghera, D.K., Teumer, A., Zeggini, E., Metspalu, A., Gasparini, P., Ulivi, S., Ober, C., Toniolo, D., Rudan, I., Porteous, D.J., Ciullo, M., Spector, T.D., Hayward, C., Dupuis, J., Loos, R.J., Wright, A.F., Chandak, G.R., Vollenweider, P., Shuldiner, A.R., Ridker, P.M., Rotter, J.I., Sattar, N., Gyllensten, U., North, K.E., Pirastu, M., Psaty, B.M., Weir, D.R., Laakso, M., Gudnason, V., Takahashi, A., Chambers, J.C., Kooner, J.S., Strachan, D.P., Campbell, H., Hirschhorn, J.N., Perola, M., Pola?ek O., Wilson, J.F., Immunology, Medical Microbiology & Infectious Diseases, Erasmus MC other, Medical Informatics, Epidemiology, Pathology, Public Health, Ophthalmology, Internal Medicine, Cardiology, Child and Adolescent Psychiatry / Psychology, Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Joshi, Peter K, Esko, Tonu, Mattsson, Hannele, Eklund, Niina, Gandin, Ilaria, Nutile, Teresa, Jackson, Anne U., Schurmann, Claudia, Smith, Albert V., Zhang, Weihua, Okada, Yukinori, Stančáková, Alena, Faul, Jessica D., Zhao, Wei, Bartz, Traci M., Concas, MARIA PINA, Franceschini, Nora, Enroth, Stefan, Vitart, Veronique, Trompet, Stella, Guo, Xiuqing, Chasman, Daniel I., O'Connel, Jeffrey R., Corre, Tanguy, Nongmaithem, Suraj S., Chen, Yuning, Mangino, Massimo, Ruggiero, Daniela, Traglia, Michela, Farmaki, Aliki Eleni, Kacprowski, Tim, Bjonnes, Andrew, Van Der Spek, Ashley, Wu, Ying, Giri, Anil K., Yanek, Lisa R., Wang, Lihua, Hofer, Edith, Rietveld, Cornelius A., Mcleod, Olga, Cornelis, Marilyn C., Pattaro, Cristian, Verweij, Niek, Baumbach, Clemen, Abdellaoui, Abdel, Warren, Helen R., Vuckovic, Dragana, Mei, Hao, Bouchard, Claude, Perry, John R. B., Cappellani, Stefania, Mirza, Saira S., Benton, Miles C., Broeckel, Ulrich, Medland, Sarah E., Lind, Penelope A., Malerba, Giovanni, Drong, Alexander, Yengo, Loic, Bielak, Lawrence F., Zhi, Degui, Van Der Most, Peter J., Shriner, Daniel, Mägi, Reedik, Hemani, Gibran, Karaderi, Tugce, Wang, Zhaoming, Liu, Tian, Demuth, Ilja, Zhao, Jing Hua, Meng, Weihua, Lataniotis, Lazaro, Van Der Laan, Sander W., Bradfield, Jonathan P., Wood, Andrew R., Bonnefond, Amelie, Ahluwalia, Tarunveer S., Hall, Leanne M., Salvi, Erika, Yazar, Seyhan, Carstensen, Lisbeth, De Haan, Hugoline G., Abney, Mark, Afzal, Uzma, Allison, Matthew A., Amin, Najaf, Asselbergs, Folkert W., Bakker, Stephan J. L., Barr, R. Graham, Baumeister, Sebastian E., Benjamin, Daniel J., Bergmann, Sven, Boerwinkle, Eric, Bottinger, Erwin P., Campbell, Archie, Chakravarti, Aravinda, Chan, Yingleong, Chanock, Stephen J., Chen, Constance, Chen, Y. D. Ida, Collins, Francis S., Connell, John, Correa, Adolfo, Cupples, L. Adrienne, Smith, George Davey, Davies, Gail, Dörr, Marcu, Ehret, Georg, Ellis, Stephen B., Feenstra, Bjarke, Feitosa, Mary F., Ford, Ian, Fox, Caroline S., Frayling, Timothy M., Friedrich, Nele, Geller, Frank, Scotland, Generation, Gillham Nasenya, Irina, Gottesman, Omri, Graff, Misa, Grodstein, Francine, Gu, Charle, Haley, Chri, Hammond, Christopher J., Harris, Sarah E., Harris, Tamara B., Hastie, Nicholas D., Heard Costa, Nancy L., Heikkilä, Kauko, Hocking, Lynne J., Homuth, Georg, Hottenga, Jouke Jan, Huang, Jinyan, Huffman, Jennifer E., Hysi, Pirro G., Ikram, M. Arfan, Ingelsson, Erik, Joensuu, Anni, Johansson, Åsa, Jousilahti, Pekka, Jukema, J. Wouter, Kähönen, Mika, Kamatani, Yoichiro, Kanoni, Stavroula, Kerr, Shona M., Khan, Nazir M., Koellinger, Philipp, Koistinen, Heikki A., Kooner, Manraj K., Kubo, Michiaki, Kuusisto, Johanna, Lahti, Jari, Launer, Lenore J., Lea, Rodney A., Lehne, Benjamin, Lehtimäki, Terho, Liewald, David C. M., Lind, Lar, Loh, Marie, Lokki, Marja Liisa, London, Stephanie J., Loomis, Stephanie J., Loukola, Anu, Lu, Yingchang, Lumley, Thoma, Lundqvist, Annamari, Männistö, Satu, Marques Vidal, Pedro, Masciullo, Corrado, Matchan, Angela, Mathias, Rasika A., Matsuda, Koichi, Meigs, James B., Meisinger, Christa, Meitinger, Thoma, Menni, Cristina, Mentch, Frank D., Mihailov, Evelin, Milani, Lili, Montasser, May E., Montgomery, Grant W., Morrison, Alanna, Myers, Richard H., Nadukuru, Rajiv, Navarro, Pau, Nalis, Mari, Nieminen, Markku S., Nolte, Ilja M., O'Connor, George T., Ogunniyi, Adesola, Padmanabhan, Sandosh, Palmas, Walter R., Pankow, James S., Patarcic, Inga, Pavani, Francesca, Peyser, Patricia A., Pietilainen, Kirsi, Poulter, Neil, Prokopenko, Inga, Ralhan, Sarju, Redmond, Paul, Rich, Stephen S., Rissanen, Harri, Robino, Antonietta, Rose, Lynda M., Rose, Richard, Sala, Cinzia, Salako, Babatunde, Salomaa, Veikko, Sarin, Antti Pekka, Saxena, Richa, Schmidt, Helena, Scott, Laura J., Scott, William R., Sennblad, Bengt, Seshadri, Sudha, Sever, Peter, Shrestha, Smeeta, Smith, Blair H., Smith, Jennifer A., Soranzo, Nicole, Sotoodehnia, Nona, Southam, Lorraine, Stanton, Alice V., Stathopoulou, Maria G., Strauch, Konstantin, Strawbridge, Rona J., Suderman, Matthew J., Tandon, Nikhil, Tang, Sian Tsun, Taylor, Kent D., Tayo, Bamidele O., Töglhofer, Anna Maria, Tomaszewski, Maciej, Tšernikova, Natalia, Tuomilehto, Jaakko, Uitterlinden, Andre G., Vaidya, Dhananjay, Van Hylckama Vlieg, Astrid, Van Setten, Jessica, Vasankari, Tuula, Vedantam, Sailaja, Vlachopoulou, Efthymia, Vozzi, Diego, Vuoksimaa, Eero, Waldenberger, Melanie, Ware, Erin B., Wentworth Shields, William, Whitfield, John B., Wild, Sarah, Willemsen, Gonneke, Yajnik, Chittaranjan S., Yao, Jie, Zaza, Gianluigi, Zhu, Xiaofeng, Salem, Rany M., Melbye, Mad, Bisgaard, Han, Samani, Nilesh J., Cusi, Daniele, Mackey, David A., Cooper, Richard S., Froguel, Philippe, Pasterkamp, Gerard, Grant, Struan F. A., Hakonarson, Hakon, Ferrucci, Luigi, Scott, Robert A., Morris, Andrew D., Palmer, Colin N. A., Dedoussis, George, Deloukas, Pano, Bertram, Lar, Lindenberger, Ulman, Berndt, Sonja I., Lindgren, Cecilia M., Timpson, Nicholas J., Tönjes, Anke, Munroe, Patricia B., Sørensen, Thorkild I. A., Rotimi, Charles N., Arnett, Donna K., Oldehinkel, Albertine J., Kardia, Sharon L. R., Balkau, Beverley, Gambaro, Giovanni, Morris, Andrew P., Eriksson, Johan G., Wright, Margie J., Martin, Nicholas G., Hunt, Steven C., Starr, John M., Deary, Ian J., Griffiths, Lyn R., Tiemeier, Henning, Pirastu, Nicola, Kaprio, Jaakko, Wareham, Nicholas J., Pérusse, Loui, Wilson, James G., Girotto, Giorgia, Caulfield, Mark J., Raitakari, Olli, Boomsma, Dorret I., Gieger, Christian, Van Der Harst, Pim, Hicks, Andrew A., Kraft, Peter, Sinisalo, Juha, Knekt, Paul, Johannesson, Magnu, Magnusson, Patrik K. E., Hamsten, Ander, Schmidt, Reinhold, Borecki, Ingrid B., Vartiainen, Erkki, Becker, Diane M., Bharadwaj, Dwaipayan, Mohlke, Karen L., Boehnke, Michael, Van Duijn, Cornelia M., Sanghera, Dharambir K., Teumer, Alexander, Zeggini, Eleftheria, Metspalu, Andre, Gasparini, Paolo, Ulivi, Sheila, Ober, Carole, Toniolo, Daniela, Rudan, Igor, Porteous, David J., Ciullo, Marina, Spector, Tim D., Hayward, Caroline, Dupuis, Josée, Loos, Ruth J. F., Wright, Alan F., Chandak, Giriraj R., Vollenweider, Peter, Shuldiner, Alan R., Ridker, Paul M., Rotter, Jerome I., Sattar, Naveed, Gyllensten, Ulf, North, Kari E., Pirastu, Mario, Psaty, Bruce M., Weir, David R., Laakso, Markku, Gudnason, Vilmundur, Takahashi, Atsushi, Chambers, John C., Kooner, Jaspal S., Strachan, David P., Campbell, Harry, Hirschhorn, Joel N., Perola, Marku, Polašek, Ozren, Wilson, James F., Imperial College Healthcare NHS Trust- BRC Funding, National Institute for Health Research, BioBank Japan, Project, The BioBank Japan Project, Ehret, Georg Benedikt, Groningen Institute for Organ Transplantation (GIOT), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Life Course Epidemiology (LCE), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), and Cardiovascular Centre (CVC)

Subjects
Male, Netherlands Twin Register (NTR), Blood Pressure, BLOOD-PRESSURE, INTELLIGENCE, Runs of Homozygosity, DISEASE, Homozygosity, Cohort Studies, Cognition, Forced Expiratory Volume, GENETIC-VARIANTS, Inbreeding depression, Settore MED/14 - NEFROLOGIA, Inbreeding, Inbreeding, Evolutionary genetics, Quantitative trait loci, Non-U.S. Gov't, Dominance (genetics), ddc:616, Genetics, ARCHITECTURE, Genome, Multidisciplinary, Body Height/genetics, Research Support, Non-U.S. Gov't, Homozygote, Confounding, heterozygosity, inbreeding, genomics, QUANTITATIVE TRAITS, BioBank Japan Project, Biological Evolution, Multidisciplinary Sciences, Cholesterol, Phenotype, Cholesterol, LDL/genetics, Trait, Science & Technology - Other Topics, Educational Status, Female, Lung Volume Measurements, Human, INBREEDING DEPRESSION, Quantitative trait loci, Blood Pressure/genetics, General Science & Technology, Forced Expiratory Volume/genetics, Lung Volume Measurement, Quantitative trait locus, Biology, Research Support, Evolutionary genetics, Article, LDL, SDG 3 - Good Health and Well-being, MD Multidisciplinary, Journal Article, Humans, Genetic association, Science & Technology, Genome, Human, ta1184, PATHWAYS, Cholesterol, LDL, Body Height, Educational Statu, ASSOCIATION ANALYSIS, Evolutionary biology, Genome, Human/genetics, ta1181, Cohort Studie, Meta-Analysis
Abstract

Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10-300, 2.1 × 10-6, 2.5 × 10-10 and 1.8 × 10-10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.

Published
2015

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