High inbreeding in the Faroe Islands does not appear to constitute a risk factor for multiple sclerosis

S Binzer, K Imrell, K O Kyvik, J Hillert, E Stenager

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

BACKGROUND: Large population-based genome-wide association studies have identified several multiple sclerosis (MS) genetic risk variants, but the existing missing heritability warrants different strategies. Isolated populations offer an alternative way of searching for rare genetic variants and evaluating the possible role of consanguinity in the development of MS. Studies of consanguinity and MS risk have yielded conflicting results.

OBJECTIVES: In this study we investigated the role of consanguinity on MS risk in the relatively isolated Faroe Islands, which have a presumed high level of inbreeding.

METHODS: A total of 29 cases and 28 matched controls were genotyped and assessed for inbreeding coefficients, number of runs of homozygosity (ROH) at different lengths and observed number of homozygotes as measures of relatedness. Parametric and non-parametric statistical models were applied.

RESULTS: Both cases and controls exhibited considerable relatedness demonstrated by very high inbreeding coefficients, large number of observed homozygotes and many long ROH. However, apart from the number of ROH ≥ 2.5 mega base pairs, no significant differences between the two groups were observed.

CONCLUSIONS: Overall, no significant difference between cases and controls were found, indicating that consanguinity in itself does not appear to be an important risk factor for MS in the population of the Faroe Islands.

Original languageEnglish
JournalMultiple sclerosis
Volume21
Issue number8
Pages (from-to) 996-1002
ISSN1352-4585
DOIs
Publication statusPublished - 2015

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Denmark
Consanguinity
Homozygote
Population
Genome-Wide Association Study
Statistical Models
Base Pairing

Bibliographical note

Published online before print November 12, 2014

Cite this

@article{ca864562f8f54957b7cbe6595346dbe7,
title = "High inbreeding in the Faroe Islands does not appear to constitute a risk factor for multiple sclerosis",
abstract = "BACKGROUND: Large population-based genome-wide association studies have identified several multiple sclerosis (MS) genetic risk variants, but the existing missing heritability warrants different strategies. Isolated populations offer an alternative way of searching for rare genetic variants and evaluating the possible role of consanguinity in the development of MS. Studies of consanguinity and MS risk have yielded conflicting results.OBJECTIVES: In this study we investigated the role of consanguinity on MS risk in the relatively isolated Faroe Islands, which have a presumed high level of inbreeding.METHODS: A total of 29 cases and 28 matched controls were genotyped and assessed for inbreeding coefficients, number of runs of homozygosity (ROH) at different lengths and observed number of homozygotes as measures of relatedness. Parametric and non-parametric statistical models were applied.RESULTS: Both cases and controls exhibited considerable relatedness demonstrated by very high inbreeding coefficients, large number of observed homozygotes and many long ROH. However, apart from the number of ROH ≥ 2.5 mega base pairs, no significant differences between the two groups were observed.CONCLUSIONS: Overall, no significant difference between cases and controls were found, indicating that consanguinity in itself does not appear to be an important risk factor for MS in the population of the Faroe Islands.",
author = "S Binzer and K Imrell and Kyvik, {K O} and J Hillert and E Stenager",
note = "Published online before print November 12, 2014",
year = "2015",
doi = "10.1177/1352458514557305",
language = "English",
volume = "21",
pages = "996--1002",
journal = "Multiple Sclerosis Journal",
issn = "1352-4585",
publisher = "SAGE Publications",
number = "8",

}

High inbreeding in the Faroe Islands does not appear to constitute a risk factor for multiple sclerosis. / Binzer, S; Imrell, K; Kyvik, K O; Hillert, J; Stenager, E.

In: Multiple sclerosis, Vol. 21, No. 8, 2015, p. 996-1002 .

Research output: Contribution to journalJournal articleResearchpeer-review

TY - JOUR

T1 - High inbreeding in the Faroe Islands does not appear to constitute a risk factor for multiple sclerosis

AU - Binzer, S

AU - Imrell, K

AU - Kyvik, K O

AU - Hillert, J

AU - Stenager, E

N1 - Published online before print November 12, 2014

PY - 2015

Y1 - 2015

N2 - BACKGROUND: Large population-based genome-wide association studies have identified several multiple sclerosis (MS) genetic risk variants, but the existing missing heritability warrants different strategies. Isolated populations offer an alternative way of searching for rare genetic variants and evaluating the possible role of consanguinity in the development of MS. Studies of consanguinity and MS risk have yielded conflicting results.OBJECTIVES: In this study we investigated the role of consanguinity on MS risk in the relatively isolated Faroe Islands, which have a presumed high level of inbreeding.METHODS: A total of 29 cases and 28 matched controls were genotyped and assessed for inbreeding coefficients, number of runs of homozygosity (ROH) at different lengths and observed number of homozygotes as measures of relatedness. Parametric and non-parametric statistical models were applied.RESULTS: Both cases and controls exhibited considerable relatedness demonstrated by very high inbreeding coefficients, large number of observed homozygotes and many long ROH. However, apart from the number of ROH ≥ 2.5 mega base pairs, no significant differences between the two groups were observed.CONCLUSIONS: Overall, no significant difference between cases and controls were found, indicating that consanguinity in itself does not appear to be an important risk factor for MS in the population of the Faroe Islands.

AB - BACKGROUND: Large population-based genome-wide association studies have identified several multiple sclerosis (MS) genetic risk variants, but the existing missing heritability warrants different strategies. Isolated populations offer an alternative way of searching for rare genetic variants and evaluating the possible role of consanguinity in the development of MS. Studies of consanguinity and MS risk have yielded conflicting results.OBJECTIVES: In this study we investigated the role of consanguinity on MS risk in the relatively isolated Faroe Islands, which have a presumed high level of inbreeding.METHODS: A total of 29 cases and 28 matched controls were genotyped and assessed for inbreeding coefficients, number of runs of homozygosity (ROH) at different lengths and observed number of homozygotes as measures of relatedness. Parametric and non-parametric statistical models were applied.RESULTS: Both cases and controls exhibited considerable relatedness demonstrated by very high inbreeding coefficients, large number of observed homozygotes and many long ROH. However, apart from the number of ROH ≥ 2.5 mega base pairs, no significant differences between the two groups were observed.CONCLUSIONS: Overall, no significant difference between cases and controls were found, indicating that consanguinity in itself does not appear to be an important risk factor for MS in the population of the Faroe Islands.

U2 - 10.1177/1352458514557305

DO - 10.1177/1352458514557305

M3 - Journal article

C2 - 25392331

VL - 21

SP - 996

EP - 1002

JO - Multiple Sclerosis Journal

JF - Multiple Sclerosis Journal

SN - 1352-4585

IS - 8

ER -