Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.

BMC Medical Genetics
Maristella PitzalisF Cucca

Abstract

The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis. To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic. In T1D, aside from the HLA locus, we found four regions showing a lod-score > or =1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score > or =1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we...Continue Reading

References

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Citations

Apr 10, 2013·Environmental Geochemistry and Health·Paolo ValeraBenedetto De Vivo
Dec 26, 2009·Journal of Autoimmunity·Yinon ShapiraYehuda Shoenfeld
Apr 8, 2009·Journal of Autoimmunity·Anura Hewagama, Bruce Richardson
Dec 24, 2014·Multiple Sclerosis : Clinical and Laboratory Research·Ruth Ann MarriePer Soelberg Sorensen
Dec 24, 2014·Multiple Sclerosis : Clinical and Laboratory Research·Ruth Ann MarrieMaria Trojano
Jan 28, 2015·Multiple Sclerosis : Clinical and Laboratory Research·Ruth Ann MarrieNadia Reider
Jan 13, 2018·Nutrients·Alessandro SannaPaolo Valera
Dec 5, 2019·Journal of Cellular and Molecular Medicine·Eleonora LoiPatrizia Zavattari

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Methods Mentioned

BETA
PCR
Profiler
genotyping

Software Mentioned

MapMaker
Genetic Profiler
Pedstats
SIBS
Genehunter
Merlin
Pedmanager
GAS

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