APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease.

Häfliger, Irene Monika; Hofstetter, Sonja; Mock, Thomas; Stettler, Manuela Hanna; Meylan, Mireille; Mehinagic, Kemal; Stokar von Neuforn, Nadine; Drögemüller, Cord (2019). APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease. Animal genetics, 50(4), pp. 372-375. Wiley 10.1111/age.12801

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In 2015, cholesterol deficiency (CD) was reported for the first time as a new recessive defect in Holstein cattle. After GWAS mapping and identification of a disease-associated haplotype, a causative loss-of-function variant in APOB was identified. CD-clinically affected APOB homozygotes showed poor development, intermittent diarrhea and hypocholesterolemia and, consequently, a limited life expectation. Herein, we present a collection of 18 cases clinically diagnosed as CD-affected APOB heterozygotes. CD-clinically affected heterozygotes show reduced cholesterol and triglyceride blood concentrations. The differences in total blood cholesterol and triglycerides between nine CD-clinically affected and 36 non-affected heterozygotes were significant. As only some APOB heterozygotes show the clinical CD phenotype, we assume that the penetrance is reduced in heterozygotes compared to the fully penetrant effect observed in homozygotes. We conclude that APOB-associated CD represents most likely an incomplete dominant inherited metabolic disease with incomplete penetrance in heterozygotes.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Clinic for Ruminants
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Häfliger, Irene Monika; Hofstetter, Sonja; Mock, Thomas; Stettler, Manuela Hanna; Meylan, Mireille; Mehinagic, Kemal; Stokar von Neuforn, Nadine and Drögemüller, Cord

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0268-9146

Publisher:

Wiley

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

08 Aug 2019 07:02

Last Modified:

08 Aug 2019 07:02

Publisher DOI:

10.1111/age.12801

PubMed ID:

31215050

Uncontrolled Keywords:

apolipoprotein B calf survival genetic disorder incomplete penetrance rare disease

BORIS DOI:

10.7892/boris.131518

URI:

https://boris.unibe.ch/id/eprint/131518

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