ABSTRACT
BACKGROUND: Multiple sclerosis (MS) is a chronic demyelinating neurodegenerative disorder with a strong genetic component. OBJECTIVE: The prevalence of MS in India is low compared with white populations of Northern European descent. METHODS: In order to ascertain whether disease susceptibility genes are the same across different populations, we completed the first investigation in the Indian MS population of 15 MS loci outside of the major histocompatibility (MHC) region that were previously identified and validated with MS susceptibility through genome-wide association and replication studies in white populations. RESULTS: In total, 197 Indian patients and 197 unrelated controls were analyzed. The most associated single nucleotide polymorphism (SNP) within this study was rs6897932 in the IL7R gene, which showed a strong protective effect in this data set (rs 6897932, OR = 0.5543, 95% CI = 0.37-0.78, p = 0.0009727). Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p = 0.0082, OR = 1.478, 95% CI = 1.106-1.975) and CD226 rs763361 (p = 0.03971, OR = 1.353, CI = 1.014-1.805). For the majority of the remaining SNPs (7/14), the trend for association was in the same direction as in previous studies in the white population. CONCLUSIONS: Although the power of this study was limited, our preliminary data suggest that disease susceptibility genes in MS in the Indian population may be similar to those of western populations.
Subject(s)
Asian People/genetics , Multiple Sclerosis/genetics , Polymorphism, Single Nucleotide , Receptors, Interleukin-7/genetics , Adult , Antigens, Differentiation, T-Lymphocyte/genetics , Case-Control Studies , Female , Genetic Predisposition to Disease , Humans , India , Lectins, C-Type/genetics , Male , Monosaccharide Transport Proteins/genetics , Multiple Sclerosis/ethnology , Multiple Sclerosis/immunology , Odds Ratio , Phenotype , Registries , Risk Assessment , Risk Factors , White People/geneticsABSTRACT
The devastating global impact of acquired immunodeficiency syndrome (AIDS) has greatly sensitized the public to the threat of new microbes that are capable of wrecking havoc on the world's population. The HIV virus infects and depletes CD4+ T lymphocytes. However cases have been described with profound CD4+ T cell lymphocytopenia but without evidence of HIV infection, a condition now termed as "Idiopathic CD4+ T-Lymphocytopenia". This unexpected revelation at the Ninth International AIDS Conference in Amsterdam was a cause of great public concern and extra ordinary media attention. Hence the Centre for Disease Control and Prevention in Atlanta (CDC) reviewed 23179 cases in the CDC AIDS reporting registry and performed interviews medical record reviews and laboratory analysis of blood specimens and finally identified 47 cases that met the CDC case definition of idiopathic CD4+ T cell lymphocytopenia (<300 CD4+Tcells/cumm or a CD4+ cell count <20% of the total T cell on two occasions, no evidence of infection on HIV testing, absence of any defined immunodeficiency or therapy associated with depressed levels of CD4+ T cells). We are hereby reporting one such case we encountered at our centre who presented with monoparesis and subsequently developed multiple cranial nerve palsy and deteriorating sensorium unresponsive to therapy which eventually turned out to be a case of "Idiopathic CD4+ T-Lymphocytopenia" with cryptococcal meningitis.
