The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion

Michelle Møhlenberg; Hans Henrik Gad; Rune Hartmann

doi:10.1089/jir.2019.0051

The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion

Michelle Møhlenberg, Hans Henrik Gad, Rune Hartmann

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

Abstract

Genetic variation within the IFNL loci is associated with several diseases and evidence indicates that the IFNL genes have been subjects of strong selection during recent human evolution. The nonsynonymous rs30461 single nucleotide polymorphism (SNP), generating interferon (IFN)-λ1 D188N, shows a strong signature of positive selection in European and Asian populations. Nevertheless, genetic association studies have failed to show any coupling of rs30461 to diseases such as psoriasis and periodontitis. Based on these observations, we purified IFN-λ1 N188 and IFN-λ1 D188 to compare the biological activity of these 2 IFN-λ1 versions. Furthermore, we evaluated the secretion of the 2 different IFN-λ1 versions. We were unable to observe any differences between IFN-λ1 N188 and IFN-λ1 D188 based on biological activity or secretion that could account for the positive selection.

Originalsprog	Engelsk
Tidsskrift	Journal of Interferon & Cytokine Research
Vol/bind	39
Nummer	10
Sider (fra-til)	661-667
Antal sider	7
ISSN	1079-9907
DOI	https://doi.org/10.1089/jir.2019.0051
Status	Udgivet - okt. 2019

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10.1089/jir.2019.0051

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title = "The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion",

abstract = "Genetic variation within the IFNL loci is associated with several diseases and evidence indicates that the IFNL genes have been subjects of strong selection during recent human evolution. The nonsynonymous rs30461 single nucleotide polymorphism (SNP), generating interferon (IFN)-λ1 D188N, shows a strong signature of positive selection in European and Asian populations. Nevertheless, genetic association studies have failed to show any coupling of rs30461 to diseases such as psoriasis and periodontitis. Based on these observations, we purified IFN-λ1 N188 and IFN-λ1 D188 to compare the biological activity of these 2 IFN-λ1 versions. Furthermore, we evaluated the secretion of the 2 different IFN-λ1 versions. We were unable to observe any differences between IFN-λ1 N188 and IFN-λ1 D188 based on biological activity or secretion that could account for the positive selection.",

keywords = "IFN-λ1, SNP, antiviral activity, human evolution",

author = "Michelle M{\o}hlenberg and Gad, {Hans Henrik} and Rune Hartmann",

year = "2019",

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The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion. / Møhlenberg, Michelle ; Gad, Hans Henrik ; Hartmann, Rune.
I: Journal of Interferon & Cytokine Research, Bind 39, Nr. 10, 10.2019, s. 661-667.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

TY - JOUR

T1 - The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion

AU - Møhlenberg, Michelle

AU - Gad, Hans Henrik

AU - Hartmann, Rune

PY - 2019/10

Y1 - 2019/10

N2 - Genetic variation within the IFNL loci is associated with several diseases and evidence indicates that the IFNL genes have been subjects of strong selection during recent human evolution. The nonsynonymous rs30461 single nucleotide polymorphism (SNP), generating interferon (IFN)-λ1 D188N, shows a strong signature of positive selection in European and Asian populations. Nevertheless, genetic association studies have failed to show any coupling of rs30461 to diseases such as psoriasis and periodontitis. Based on these observations, we purified IFN-λ1 N188 and IFN-λ1 D188 to compare the biological activity of these 2 IFN-λ1 versions. Furthermore, we evaluated the secretion of the 2 different IFN-λ1 versions. We were unable to observe any differences between IFN-λ1 N188 and IFN-λ1 D188 based on biological activity or secretion that could account for the positive selection.

AB - Genetic variation within the IFNL loci is associated with several diseases and evidence indicates that the IFNL genes have been subjects of strong selection during recent human evolution. The nonsynonymous rs30461 single nucleotide polymorphism (SNP), generating interferon (IFN)-λ1 D188N, shows a strong signature of positive selection in European and Asian populations. Nevertheless, genetic association studies have failed to show any coupling of rs30461 to diseases such as psoriasis and periodontitis. Based on these observations, we purified IFN-λ1 N188 and IFN-λ1 D188 to compare the biological activity of these 2 IFN-λ1 versions. Furthermore, we evaluated the secretion of the 2 different IFN-λ1 versions. We were unable to observe any differences between IFN-λ1 N188 and IFN-λ1 D188 based on biological activity or secretion that could account for the positive selection.

KW - IFN-λ1

KW - SNP

KW - antiviral activity

KW - human evolution

U2 - 10.1089/jir.2019.0051

DO - 10.1089/jir.2019.0051

M3 - Journal article

C2 - 31120365

SN - 1079-9907

VL - 39

SP - 661

EP - 667

JO - Journal of Interferon & Cytokine Research

JF - Journal of Interferon & Cytokine Research

IS - 10

ER -

The Influence of the rs30461 Single Nucleotide Polymorphism on IFN-λ1 Activity and Secretion

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