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Related Experiment Video

Updated: Jun 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

More CLEC16A gene variants associated with multiple sclerosis.

S Nischwitz¹, S Cepok, A Kroner

¹Max Planck Institute of Psychiatry, Munich, Germany. slutz@mpipsykl.mpg.de

Acta Neurologica Scandinavica

|September 21, 2010

Summary

Researchers identified specific genetic variations in the CLEC16A gene associated with multiple sclerosis (MS). These findings highlight a key region in CLEC16A intron 19 potentially influencing MS susceptibility.

Related Experiment Videos

Last Updated: Jun 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Genetics
Immunology
Neurology

Background:

Previous studies suggested associations between single-nucleotide polymorphisms (SNPs) in the CLEC16A gene and autoimmune diseases like multiple sclerosis (MS), type-I diabetes, and primary adrenal insufficiency.
The specific region within CLEC16A responsible for these associations remained largely undefined.

Purpose of the Study:

To perform fine mapping of the CLEC16A gene using linkage disequilibrium (LD) to identify specific SNPs associated with MS.
To investigate the role of a particular region within CLEC16A in MS susceptibility.

Main Methods:

Conducted LD fine mapping using 31 SNPs within the CLEC16A gene.
Analyzed a German cohort comprising 603 MS patients and 825 healthy controls.
Focused on identifying the region with the highest statistical association with MS.

Main Results:

Identified four SNPs in intron 19 of the CLEC16A gene associated with MS.
Replicated the association for SNP rs725613.
Demonstrated for the first time the association of SNPs rs2041670, rs2080272, and rs998592 with MS.

Conclusions:

The identified associated SNPs map to a single LD block of approximately 50 kb within CLEC16A intron 19.
This region is suggested to play a crucial role in MS susceptibility.
The findings imply a potential role for this CLEC16A region in the pathogenesis of other autoimmune diseases as well.