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- Khatri, B., et al.
(author)
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Genome-wide association study identifies Sjogren's risk loci with functional implications in immune and glandular cells
- 2022
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Journal article (peer-reviewed)abstract
- Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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| 2. |
- Lundtoft, Christian, et al.
(author)
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Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjogren's Syndrome
- 2022
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In: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 74:11, s. 1842-1850
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Journal article (peer-reviewed)abstract
- Objective Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary Sjogren's syndrome (SS) has not been studied systematically. This study was undertaken to investigate potential associations of heterozygous C2 deficiency and C4 copy number variation with clinical manifestations in patients with SLE and patients with primary SS. Methods The presence of the common 28-bp C2 deletion rs9332736 and C4 copy number variation was examined in Scandinavian patients who had received a diagnosis of SLE (n = 958) or primary SS (n = 911) and in 2,262 healthy controls through the use of DNA sequencing. The concentration of complement proteins in plasma and classical complement function were analyzed in a subgroup of SLE patients. Results Heterozygous C2 deficiency-when present in combination with a low C4A copy number-substantially increased the risk of SLE (odds ratio [OR] 10.2 [95% confidence interval (95% CI) 3.5-37.0]) and the risk of primary SS (OR 13.0 [95% CI 4.5-48.4]) when compared to individuals with 2 C4A copies and normal C2. For patients heterozygous for rs9332736 with 1 C4A copy, the median age at diagnosis was 7 years earlier in patients with SLE and 12 years earlier in patients with primary SS when compared to patients with normal C2. Reduced C2 levels in plasma (P = 2 x 10(-9)) and impaired function of the classical complement pathway (P = 0.03) were detected in SLE patients with heterozygous C2 deficiency. Finally, in a primary SS patient homozygous for C2 deficiency, we observed low levels of anti-Scl-70, which suggests a risk of developing systemic sclerosis or potential overlap between primary SS and other systemic autoimmune diseases. Conclusion We demonstrate that a genetic pattern involving partial deficiencies of C2 and C4A in the classical complement pathway is a strong risk factor for SLE and for primary SS. Our results emphasize the central role of the complement system in the pathogenesis of both SLE and primary SS.
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| 3. |
- Björquist, E, et al.
(author)
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Transitioning to Adulthood in Sweden: Comparing the Priorities of Immigrant Youths with Disabilities and Caregivers, from Middle-Eastern Countries
- 2018
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In: Research in Health Science. - : Scholink Co, Ltd.. - 2470-6205 .- 2470-6213. ; 3:1
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Journal article (peer-reviewed)abstract
- Background: There is limited knowledge about perceived challenges during the transition to adulthood among immigrant youths who are originally from Arabic-speaking countries but now residing in Sweden. Aim: The aim of this study was to describe self-identified problems encountered by immigrant youths with disabilities from Middle Eastern countries who were living in Sweden during their transition to adulthood and to compare these descriptions to the problems identified by their caregivers.Methods: Seventeen semi-structured interviews using the Canadian Occupational Performance Measure were conducted with 17 immigrant youths with intellectual disabilities aged 13-24 years and 16 caregivers, originally from Middle Eastern countries. The participants’ prioritized problems were categorized using the International Classification of Functioning, Disability and Health-Children & Youth Version, focusing on Activity and Participation.Results: A difference in priorities during transition was found when comparing the youths’ and the caregivers’ views. Most of the youths’ priorities were identified in the chapter “Major Life Area” about basic economic transactions and seeking employment, whilst the caregivers thought their youths’ prioritized “self-care”.Conclusion and implications for practice: Planning the best transition for immigrant youths with disabilities involves enabling them to identify their own preferences and needs while collaborating with caregivers and taking into consideration the cultural norms and traditions of collective caregiving.
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| 4. |
- Björquist, Elisabet, et al.
(author)
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Immigrant Youths with Disabilities and Caregivers from the Middle-East—Challenges and Needs During Transition to Adulthood
- 2017
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In: Research in Health Science. - : Scholink Co, Ltd.. - 2470-6205 .- 2470-6213. ; 2:4, s. 363-384
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Journal article (peer-reviewed)abstract
- Background: Recent years of research have increased the knowledge about how to support the transition to adulthood for youths with disabilities. In today’s multi-cultural societies knowledge about transitioning immigrant youths and their caregivers is still needed.Objective: To describe the expectations and needs of immigrant youths with disabilities residing in Sweden during their transition into adulthood as well as the expectations and needs of their caregivers, all of whom come from Arabic-speaking countries.Method: Structured interviews based on the Rotterdam Transition Profile (RTP) questionnaire were conducted with youths 16 to 24 years of age and with caregivers based on the Family Needs Survey (FNS).Results: Findings of interest were the youths´ dependence on parents for care demands and leisure activities, their need for information regarding future care and support and their concerns regarding future marriage. Caregivers’ felt unfamiliar with the term ‘intellectual disability’ and had a need for information about their youths’ condition and of available service for their children now and in the future.Conclusion: To prepare immigrant youths for future support, health care and habilitation services, it is important to enhance their autonomy. Immigrant families need culturally sensitive support and information, provided by designated professionals in their language of preference during the youths’ transition to adulthood.
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