Croatian Medical Journal
Volume 47, Issue 4, 2006, Pages 601-610

Effects of inbreeding, endogamy, genetic admixture, and outbreeding on human health: A "1001 Dalmatians" study (Article)

Rudan I.* , Biloglav Z. , Vorko-Jović A. , Kujundžić-Tiljak M. , Stevanović R. , Ropac D. , Puntarić D. , Čučević B. , Salzer B. , Campbell H.
  • a Department of Public Health Sciences, Faculty of Medicine, University of Edinburgh, United Kingdom, Department of Medical Statistics, Epidemiology, and Medical Informatics, Andrija Štampar School of Public Health, Zagreb University School of Medicine, Zagreb, Croatia, Department of Medical Statistics, Epidemiology and Medical Informatics, Andrija Štampar School of Public Health, Zagreb University School of Medicine, Rockefellerova 4, 10000 Zagreb, Croatia
  • b Department of Medical Statistics, Epidemiology, and Medical Informatics, Andrija Štampar School of Public Health, Zagreb University School of Medicine, Zagreb, Croatia
  • c Department of Medical Statistics, Epidemiology, and Medical Informatics, Andrija Štampar School of Public Health, Zagreb University School of Medicine, Zagreb, Croatia
  • d Department of Medical Statistics, Epidemiology, and Medical Informatics, Andrija Štampar School of Public Health, Zagreb University School of Medicine, Zagreb, Croatia
  • e Croatian Institute of Public Health, Zagreb, Croatia
  • f Department of Epidemiology, Split University, School of Medicine, Split, Croatia
  • g Department of Epidemiology, Osijek University, School of Medicine, Osijek, Croatia
  • h University Hospital for Lung Diseases Jordanovac, Zagreb, Croatia
  • i Biochemical Laboratory Labor Centar, Zagreb, Croatia
  • j Department of Public Health Sciences, Faculty of Medicine, University of Edinburgh, United Kingdom

Abstract

Aim: "1001 Dalmatians" research program collects biomedical information from multiple small isolated populations ("metapopulation" ) on Adriatic islands, Croatia, and investigates health effects of human population isolation, inbreeding, admixture, and outbreeding. Methods: We collected random samples of 100 individuals from 9 island settlements and an additional sample of 101 immigrants to the islands, pooled from all study populations. According to their personal genetic histories, the examinees were categorized as inbred, autochthonous, admixed, and outbred. A total of 76 inbred individuals from a total sample of 1001 examinees were matched to 76 autochthonous, 76 admixed, and 76 outbred controls by gender, age (±5 years), village of residence, education, and socio-economic status. We investigated the effects of presumed individual genome-wide heterozygosity predicted from personal genetic histories on the following 10 traits: systolic and diastolic blood pressure, body mass index, high and low density lipoproteins and total cholesterol, triglycerides, uric acid, creatinine, and blood glucose. Results: Personal genetic history significantly affected systolic blood pressure (Spearman ρ=0.157, P = 0.006), while the effect on cholesterol (ρ=0.105, P = 0.069), and high density lipoprotein cholesterol (ρ=0.104, P = 0.071) was suggestive. Admixed individuals and immigrants consistently showed values associated with lower health risk. When inbred and autochthonous samples were merged and compared with the admixed and outbred samples to increase the power of the study, the effects on the three traits above and also on body mass index and diastolic blood pressure became statistically significant. The medians for all 10 medically relevant traits in inbred and autochthonous group, with lower values of presumed individual genomewide heterozygosity, were less favorable in terms of health. Conclusion: The combined effects of founder effect, genetic drift, and inbreeding can increase the frequency of detrimental rare variants in human metapopulations, leading to overall worsening of population health, whereas admixture and outbreeding appear to have the opposite effect.

Author Keywords

[No Keywords available]

Index Keywords

immigrant demography blood pressure Croatia human middle aged medical research genetic trait controlled study uric acid Founder Effect Aged Genetic Drift genome outbreeding Humans Quantitative Trait, Heritable geography male female Aged, 80 and over consanguinity heterozygote population distribution socioeconomics Genetics, Population cholesterol Article health care genetic analysis glucose blood level adult heterozygosity inbreeding high density lipoprotein cholesterol Cholesterol, HDL triacylglycerol body mass systolic blood pressure diastolic blood pressure health hazard low density lipoprotein creatinine
Link
https://www.scopus.com/inward/record.uri?eid=2-s2.0-33747844279&partnerID=40&md5=7a8f8236e1e650525debc9c243b7b022
ISSN: 03539504
Cited by: 38
Original Language: English