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- Hillert, J., et al.
(author)
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Expert opinion on the use of contraception in people with multiple sclerosis
- 2022
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In: Multiple Sclerosis Journal. - : Sage Publications. - 1352-4585 .- 1477-0970. ; 28:Suppl. 3, s. 187-188
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Journal article (other academic/artistic)abstract
- Introduction: The most appropriate use, type, and timing of contraception in people with multiple sclerosis (PwMS) is poorly understood, and specific guidance is absent.Aims and Objectives: To provide insight into potential clinical guidelines for the use of contraception by PwMS through development of recommendations by a consensus-based program led by international clinical experts.Methods: A multidisciplinary steering committee (SC) of 13 international expert healthcare professionals (HCPs) identified 15 key clinical questions on the use of contraception in PwMS, which addressed issues relating to patient-centred care, selection of contraception for PwMS, and time needed to use contraception since the last dose of disease modifying therapies (DMTs). Twenty-five clinical recommendations addressing the questions were drafted using evidence obtained from a comprehensive systematic literature review combined with expert opinion from the SC. An extended faculty of 32 HCPs from 18 countries including a patient association representative, and the SC members (n=12), voted on the recommendations. Consensus on recommendations was achieved when ⩾75% of respondents expressed an agreement score of 7–9, on a 9-point scale.Results: Overall, consensus was achieved on 24 out of 25 clinical recommendations. In detail, consensus in the range of 90–100% was achieved on 11 recommendations, 12 recommendations achieved 80–89% consensus, and 1 recommendation achieved 75–79% consensus (n=44). The strength of recommendations ranged from 7–9. The one statement failing to achieve consensus scored 74.1%. Clinical recommendations are provided on the process of prescribing contraception for PwMS, including the recommended types of HCPs involved and optimal topics to discuss; the range of contraceptive options and the key considerations involved in selecting an appropriate method of contraception; and the timing of starting and stopping contraception in relation to the use of DMTs.Conclusions: These expert recommendations were based on a robust consensus approach, providing timely and practical guidance on the use of contraception for HCPs treating PwMS and will form the basis of further publications and clinical tools.
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- Binzer, S, et al.
(author)
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Genetic analysis of the isolated Faroe Islands reveals SORCS3 as a potential multiple sclerosis risk gene
- 2016
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In: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1477-0970 .- 1352-4585. ; 22:6, s. 733-740
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Journal article (peer-reviewed)abstract
- In search of the missing heritability in multiple sclerosis (MS), additional approaches adding to the genetic discoveries of large genome-wide association studies are warranted. Objective: The objective of this research paper is to search for rare genetic MS risk variants in the genetically homogenous population of the isolated Faroe Islands. Methods: Twenty-nine Faroese MS cases and 28 controls were genotyped with the HumanOmniExpressExome-chip. The individuals make up 1596 pair-combinations in which we searched for identical-by-descent shared segments using the PLINK-program. Results: A segment spanning 63 SNPs with excess case-case-pair sharing was identified (0.00173 < p > 0.00212). A haplotype consisting of 42 of the 63 identified SNPs which spanned the entire the Sortilin-related vacuolar protein sorting 10 domain containing receptor 3 ( SORCS3) gene had a carrier frequency of 0.34 in cases but was not present in any controls ( p = 0.0008). Conclusion: This study revealed an oversharing in case-case-pairs of a segment spanning 63 SNPs and the entire SORCS3. While not previously associated with MS, SORCS3 appears to be important in neuronal plasticity through its binding of neurotrophin factors and involvement in glutamate homeostasis. Although additional work is needed to scrutinise the genetic effect of the SORCS3-covering haplotype, this study suggests that SORCS3 may also be important in MS pathogenesis.
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- Binzer, S, et al.
(author)
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High inbreeding in the Faroe Islands does not appear to constitute a risk factor for multiple sclerosis
- 2015
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In: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1477-0970 .- 1352-4585. ; 21:8, s. 996-1002
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Journal article (peer-reviewed)abstract
- 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.
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