CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population
Mary Anitha D'Cunha1, Lekha Pandit1, Chaithra Malli1
1Center for Advanced Neurological Research, KS Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
Annals of Indian Academy of Neurology
|December 21, 2016
Summary
Genetic variations linked to multiple sclerosis (MS) in Western populations were studied in Indians. The CD6 gene SNP (rs17824933) showed a significant association with MS risk in this population.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Global increase in multiple sclerosis (MS) prevalence.
- Limited research on MS genetic associations in non-white populations, specifically Indians.
- Need to investigate genetic risk factors in diverse ethnic groups.
Purpose of the Study:
- To evaluate known MS-associated genetic variations outside the major histocompatibility complex (MHC) region in Indian patients.
- To determine if genetic risk factors for MS in Europeans are also relevant in the Indian population.
- To identify specific single nucleotide polymorphisms (SNPs) associated with MS in Indians.
Main Methods:
- Investigated 10 gene-associated SNPs outside the MHC region.
- Genotyped 300 MS patients and 720 unrelated controls.
- Utilized ABI7500 real-time PCR with TaqMan SNP genotyping assays.
Main Results:
- Significant association found for CD6 gene SNP (rs17824933) with MS (P = 4.2 × 10^-5, OR = 2.24).
- Modest associations observed for TMEM39A rs1132200 (P = 0.023) and IL2RA rs2104286 (P = 0.04).
- Allele frequencies for other SNPs were overexpressed in MS patients compared to controls.
Conclusions:
- Genetic risk associations for MS in Indian and European populations are similar.
- Highlights the potential for shared genetic underpinnings of MS across different ethnicities.
- Supports the investigation of specific genetic markers in diverse MS cohorts.
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