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Effects of Isolation and Inbreeding on Human Quantitative Traits: An Example of Biochemical Markers of Hemostasis and Inflammation

Isolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heteroz... Full description

Journal Title: Human biology 2008-10, Vol.80 (5), p.513-533
Main Author: Pulanić, Dražen
Other Authors: Polašek, Ozren , Petrovečki, Mladen , Vorko-Jović, Ariana , Peričić, Marijana , Lauc, Lovorka Barać , Klarić, Irena Martinović , Biloglav, Zrinka , Kolčić, Ivana , Zgaga, Lina , Carothers, Andrew D , Ramić, Senad , Šetić, Mia , Janićijević, Branka , Narančić, Nina Smolej , Bućan, Kajo , Rudan, Diana , Lowe, Gordon , Rumley, Ann , Rudan, Pavao , Campbell, Harry , Rudan, Igor
Format: Electronic Article Electronic Article
Language: English
Subjects:
s
Vis
Quelle: Alma/SFX Local Collection
Publisher: United States: Wayne State University Press
ID: ISSN: 0018-7143
Link: https://www.ncbi.nlm.nih.gov/pubmed/19341321
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title: Effects of Isolation and Inbreeding on Human Quantitative Traits: An Example of Biochemical Markers of Hemostasis and Inflammation
format: Article
creator:
  • Pulanić, Dražen
  • Polašek, Ozren
  • Petrovečki, Mladen
  • Vorko-Jović, Ariana
  • Peričić, Marijana
  • Lauc, Lovorka Barać
  • Klarić, Irena Martinović
  • Biloglav, Zrinka
  • Kolčić, Ivana
  • Zgaga, Lina
  • Carothers, Andrew D
  • Ramić, Senad
  • Šetić, Mia
  • Janićijević, Branka
  • Narančić, Nina Smolej
  • Bućan, Kajo
  • Rudan, Diana
  • Lowe, Gordon
  • Rumley, Ann
  • Rudan, Pavao
  • Campbell, Harry
  • Rudan, Igor
subjects:
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biochemistry
  • Biological anthropology
  • Biological markers
  • Biomarkers
  • Blood
  • Blood pressure
  • Body mass index
  • C-reactive protein (CRP)
  • Cardiovascular disease
  • cardiovascular risk
  • Chronic illnesses
  • Confounding Factors (Epidemiology)
  • Consanguinity
  • Croatia
  • D-dimer (Dd)
  • Diseases
  • Education
  • Evolutionary biology
  • Female
  • fibrinogen
  • Field study
  • Genetic aspects
  • Genetic Markers
  • Genomics
  • Geography
  • Grandparents
  • Grants
  • Health aspects
  • Hemostasis
  • Hemostasis - genetics
  • heterosis
  • Human biology
  • Human genetics
  • Humans
  • Inbreeding
  • individual genome-wide heterozygosity
  • Inflammation
  • Inflammation - genetics
  • Isolating mechanisms
  • isolation
  • Linear Models
  • Male
  • Medical genetics
  • Medical research
  • Microsatellite Repeats - genetics
  • Middle Aged
  • Mortality
  • multilocus heterozy-gosity
  • Phenotypic traits
  • Polymorphism, Single Nucleotide - genetics
  • Population dynamics
  • Population genetics
  • Properties
  • Pulanic, Draˇzen
  • Quantitative analysis
  • Quantitative genetics
  • Quantitative trait loci
  • Quantitative Trait, Heritable
  • Quantitative traits
  • Regression Analysis
  • s
  • Sexual reproduction
  • Statistics as Topic
  • tissue plasminogen activator (tPA)
  • Vis
  • von Willebrand Factor (vWF)
  • Young Adult
ispartof: Human biology, 2008-10, Vol.80 (5), p.513-533
description: Isolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heterozygosity measured as the multilocus heterozygosity (MLH) on biochemical markers of hemostasis and inflammation in 1,041 individuals from the island of Vis, Croatia, where inbreeding is prevalent and a wide range of variation in the genome-wide heterozygosity is expected. Assessment of individual genome-wide heterozygosity was based on genome-wide scans using 800 microsatellite (STR) and 317,503 single nucleotide (SNP) polymorphic markers in each examinee. In addition, for each examinee we defined a personal genetic history (PGH) based on genealogical records. The association between PGH and MLH and fibrinogen, D-dimer (Dd), von Willebrand factor (vWF), tissue plasminogen activator (tPA), and C-reactive protein (CRP) was performed with a mixed model, controlling for possible confounding effects. PGH was a significant predictor only for tPA (P < 0.001), whereas neither of the two MLH measures exhibited significant association with any of the investigated traits. The effects of individual genome-wide heterozygosity are most likely expressed in highly polygenically determined traits or in traits that are mediated by rare and recessive genetic variants. Weak associations between PGH and MLH and markers of hemostasis and inflammation suggest that their genetic control may not be highly polygenic and that they could be promising targets for genetic association studies.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0018-7143
fulltext: fulltext
issn:
  • 0018-7143
  • 1534-6617
  • 1534-6617
url: Link


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titleEffects of Isolation and Inbreeding on Human Quantitative Traits: An Example of Biochemical Markers of Hemostasis and Inflammation
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creatorPulanić, Dražen ; Polašek, Ozren ; Petrovečki, Mladen ; Vorko-Jović, Ariana ; Peričić, Marijana ; Lauc, Lovorka Barać ; Klarić, Irena Martinović ; Biloglav, Zrinka ; Kolčić, Ivana ; Zgaga, Lina ; Carothers, Andrew D ; Ramić, Senad ; Šetić, Mia ; Janićijević, Branka ; Narančić, Nina Smolej ; Bućan, Kajo ; Rudan, Diana ; Lowe, Gordon ; Rumley, Ann ; Rudan, Pavao ; Campbell, Harry ; Rudan, Igor
creatorcontribPulanić, Dražen ; Polašek, Ozren ; Petrovečki, Mladen ; Vorko-Jović, Ariana ; Peričić, Marijana ; Lauc, Lovorka Barać ; Klarić, Irena Martinović ; Biloglav, Zrinka ; Kolčić, Ivana ; Zgaga, Lina ; Carothers, Andrew D ; Ramić, Senad ; Šetić, Mia ; Janićijević, Branka ; Narančić, Nina Smolej ; Bućan, Kajo ; Rudan, Diana ; Lowe, Gordon ; Rumley, Ann ; Rudan, Pavao ; Campbell, Harry ; Rudan, Igor
descriptionIsolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heterozygosity measured as the multilocus heterozygosity (MLH) on biochemical markers of hemostasis and inflammation in 1,041 individuals from the island of Vis, Croatia, where inbreeding is prevalent and a wide range of variation in the genome-wide heterozygosity is expected. Assessment of individual genome-wide heterozygosity was based on genome-wide scans using 800 microsatellite (STR) and 317,503 single nucleotide (SNP) polymorphic markers in each examinee. In addition, for each examinee we defined a personal genetic history (PGH) based on genealogical records. The association between PGH and MLH and fibrinogen, D-dimer (Dd), von Willebrand factor (vWF), tissue plasminogen activator (tPA), and C-reactive protein (CRP) was performed with a mixed model, controlling for possible confounding effects. PGH was a significant predictor only for tPA (P < 0.001), whereas neither of the two MLH measures exhibited significant association with any of the investigated traits. The effects of individual genome-wide heterozygosity are most likely expressed in highly polygenically determined traits or in traits that are mediated by rare and recessive genetic variants. Weak associations between PGH and MLH and markers of hemostasis and inflammation suggest that their genetic control may not be highly polygenic and that they could be promising targets for genetic association studies.
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languageeng
publisherUnited States: Wayne State University Press
subjectAdolescent ; Adult ; Aged ; Aged, 80 and over ; Biochemistry ; Biological anthropology ; Biological markers ; Biomarkers ; Blood ; Blood pressure ; Body mass index ; C-reactive protein (CRP) ; Cardiovascular disease ; cardiovascular risk ; Chronic illnesses ; Confounding Factors (Epidemiology) ; Consanguinity ; Croatia ; D-dimer (Dd) ; Diseases ; Education ; Evolutionary biology ; Female ; fibrinogen ; Field study ; Genetic aspects ; Genetic Markers ; Genomics ; Geography ; Grandparents ; Grants ; Health aspects ; Hemostasis ; Hemostasis - genetics ; heterosis ; Human biology ; Human genetics ; Humans ; Inbreeding ; individual genome-wide heterozygosity ; Inflammation ; Inflammation - genetics ; Isolating mechanisms ; isolation ; Linear Models ; Male ; Medical genetics ; Medical research ; Microsatellite Repeats - genetics ; Middle Aged ; Mortality ; multilocus heterozy-gosity ; Phenotypic traits ; Polymorphism, Single Nucleotide - genetics ; Population dynamics ; Population genetics ; Properties ; Pulanic, Draˇzen ; Quantitative analysis ; Quantitative genetics ; Quantitative trait loci ; Quantitative Trait, Heritable ; Quantitative traits ; Regression Analysis ; s ; Sexual reproduction ; Statistics as Topic ; tissue plasminogen activator (tPA) ; Vis ; von Willebrand Factor (vWF) ; Young Adult
ispartofHuman biology, 2008-10, Vol.80 (5), p.513-533
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02008 Wayne State University Press
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1Polašek, Ozren
2Petrovečki, Mladen
3Vorko-Jović, Ariana
4Peričić, Marijana
5Lauc, Lovorka Barać
6Klarić, Irena Martinović
7Biloglav, Zrinka
8Kolčić, Ivana
9Zgaga, Lina
10Carothers, Andrew D
11Ramić, Senad
12Šetić, Mia
13Janićijević, Branka
14Narančić, Nina Smolej
15Bućan, Kajo
16Rudan, Diana
17Lowe, Gordon
18Rumley, Ann
19Rudan, Pavao
20Campbell, Harry
21Rudan, Igor
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0Effects of Isolation and Inbreeding on Human Quantitative Traits: An Example of Biochemical Markers of Hemostasis and Inflammation
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descriptionIsolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heterozygosity measured as the multilocus heterozygosity (MLH) on biochemical markers of hemostasis and inflammation in 1,041 individuals from the island of Vis, Croatia, where inbreeding is prevalent and a wide range of variation in the genome-wide heterozygosity is expected. Assessment of individual genome-wide heterozygosity was based on genome-wide scans using 800 microsatellite (STR) and 317,503 single nucleotide (SNP) polymorphic markers in each examinee. In addition, for each examinee we defined a personal genetic history (PGH) based on genealogical records. The association between PGH and MLH and fibrinogen, D-dimer (Dd), von Willebrand factor (vWF), tissue plasminogen activator (tPA), and C-reactive protein (CRP) was performed with a mixed model, controlling for possible confounding effects. PGH was a significant predictor only for tPA (P < 0.001), whereas neither of the two MLH measures exhibited significant association with any of the investigated traits. The effects of individual genome-wide heterozygosity are most likely expressed in highly polygenically determined traits or in traits that are mediated by rare and recessive genetic variants. Weak associations between PGH and MLH and markers of hemostasis and inflammation suggest that their genetic control may not be highly polygenic and that they could be promising targets for genetic association studies.
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2Aged
3Aged, 80 and over
4Biochemistry
5Biological anthropology
6Biological markers
7Biomarkers
8Blood
9Blood pressure
10Body mass index
11C-reactive protein (CRP)
12Cardiovascular disease
13cardiovascular risk
14Chronic illnesses
15Confounding Factors (Epidemiology)
16Consanguinity
17Croatia
18D-dimer (Dd)
19Diseases
20Education
21Evolutionary biology
22Female
23fibrinogen
24Field study
25Genetic aspects
26Genetic Markers
27Genomics
28Geography
29Grandparents
30Grants
31Health aspects
32Hemostasis
33Hemostasis - genetics
34heterosis
35Human biology
36Human genetics
37Humans
38Inbreeding
39individual genome-wide heterozygosity
40Inflammation
41Inflammation - genetics
42Isolating mechanisms
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44Linear Models
45Male
46Medical genetics
47Medical research
48Microsatellite Repeats - genetics
49Middle Aged
50Mortality
51multilocus heterozy-gosity
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53Polymorphism, Single Nucleotide - genetics
54Population dynamics
55Population genetics
56Properties
57Pulanic, Draˇzen
58Quantitative analysis
59Quantitative genetics
60Quantitative trait loci
61Quantitative Trait, Heritable
62Quantitative traits
63Regression Analysis
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65Sexual reproduction
66Statistics as Topic
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68Vis
69von Willebrand Factor (vWF)
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13Janićijević, Branka
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51multilocus heterozy-gosity
52Phenotypic traits
53Polymorphism, Single Nucleotide - genetics
54Population dynamics
55Population genetics
56Properties
57Pulanic, Draˇzen
58Quantitative analysis
59Quantitative genetics
60Quantitative trait loci
61Quantitative Trait, Heritable
62Quantitative traits
63Regression Analysis
64s
65Sexual reproduction
66Statistics as Topic
67tissue plasminogen activator (tPA)
68Vis
69von Willebrand Factor (vWF)
70Young Adult
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jtitleHuman biology
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codenHUBIAA
abstractIsolation is a known force in evolutionary biology and one of the main factors in speciation. One of the main consequences of severe isolation is reduced mate choice, which results in the occurrence of inbreeding as a result of isolation. We investigated the effects of individual genome-wide heterozygosity measured as the multilocus heterozygosity (MLH) on biochemical markers of hemostasis and inflammation in 1,041 individuals from the island of Vis, Croatia, where inbreeding is prevalent and a wide range of variation in the genome-wide heterozygosity is expected. Assessment of individual genome-wide heterozygosity was based on genome-wide scans using 800 microsatellite (STR) and 317,503 single nucleotide (SNP) polymorphic markers in each examinee. In addition, for each examinee we defined a personal genetic history (PGH) based on genealogical records. The association between PGH and MLH and fibrinogen, D-dimer (Dd), von Willebrand factor (vWF), tissue plasminogen activator (tPA), and C-reactive protein (CRP) was performed with a mixed model, controlling for possible confounding effects. PGH was a significant predictor only for tPA (P < 0.001), whereas neither of the two MLH measures exhibited significant association with any of the investigated traits. The effects of individual genome-wide heterozygosity are most likely expressed in highly polygenically determined traits or in traits that are mediated by rare and recessive genetic variants. Weak associations between PGH and MLH and markers of hemostasis and inflammation suggest that their genetic control may not be highly polygenic and that they could be promising targets for genetic association studies.
copUnited States
pubWayne State University Press
pmid19341321
doi10.3378/1534-6617-80.5.513
tpages21