PMID- 11240591 OWN - NLM STAT- MEDLINE DCOM- 20010329 LR - 20211203 IS - 0013-9580 (Print) IS - 0013-9580 (Linking) VI - 42 IP - 2 DP - 2001 Feb TI - Contribution of the MHC class II antigens to the etiology of infantile spasm in Mexican Mestizos. PG - 210-5 AB - PURPOSE: Infantile spasms (ISs) are age-dependant epileptic seizures, which may be flexor, extensor, lightning or nods, or mixed. The aim of this study was the analysis of genetic factors within the human leukocyte antigen (HLA) complex associated with ISs. METHODS: Sixty-five patients diagnosed according to the established international criteria were compared with 229 healthy individuals; all of them were Mexican Mestizos. Five families were also analyzed (seven affected and five healthy sibs); HLA class I and class II antigens were typed using the standard microlymphocytotoxicity methods. RESULTS: The findings showed female gender preference (2:1). Two thirds were symptomatic, and prevalent seizures were of mixed type (67%). A strong association with HLA-DR17 was detected in the IS group (pc < 0.01; OR = 3.6; EF = 0.20). DR17 was also found increased in the symptomatic patients (p = 0.009; OR = 3.16) and in those with other types of seizures (p = 0.001; OR = 2.0). Conversely, HLA-DQ6 was significantly decreased (pc < 0.002; PF = 0.37) in the total and in the symptomatic groups (p < 0.01). Haplotype linkage was not confirmed in the families; however, those with more than one affected sib shared at least one haplotype. CONCLUSIONS: These findings suggest the contribution of DR locus to the susceptibility and the participation of DQ region in the resistance to IS. Severity seems also to be influenced by HLA-DR17, and therefore class II typing may be a helpful tool for disease prognosis. FAU - Suastegui, R A AU - Suastegui RA AD - Department of Immunogenetics, Instituto de Diagnostico y Referencia Epidemiologicos (InDRE), SSA, Mexico City, Mexico. FAU - De La Rosa, G AU - De La Rosa G FAU - Carranza, J M AU - Carranza JM FAU - Gonzalez-Astiazaran, A AU - Gonzalez-Astiazaran A FAU - Gorodezky, C AU - Gorodezky C LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Epilepsia JT - Epilepsia JID - 2983306R RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ6 antigen) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DR Serological Subtypes) RN - 0 (HLA-DRw17 antigen) SB - IM MH - Adult MH - Age of Onset MH - Comorbidity MH - Ethnicity/*genetics MH - Family MH - Female MH - Genes, MHC Class I/genetics MH - Genes, MHC Class II/*genetics MH - Genetic Linkage MH - HLA-DQ Antigens/genetics MH - HLA-DR Antigens/genetics MH - HLA-DR Serological Subtypes MH - Haplotypes MH - Humans MH - Infant MH - Male MH - Mexico/epidemiology MH - Pedigree MH - Prognosis MH - Rural Population MH - Sex Factors MH - Spasms, Infantile/diagnosis/epidemiology/*genetics EDAT- 2001/03/10 10:00 MHDA- 2001/04/03 10:01 CRDT- 2001/03/10 10:00 PHST- 2001/03/10 10:00 [pubmed] PHST- 2001/04/03 10:01 [medline] PHST- 2001/03/10 10:00 [entrez] AID - epi22700 [pii] AID - 10.1046/j.1528-1157.2001.22700.x [doi] PST - ppublish SO - Epilepsia. 2001 Feb;42(2):210-5. doi: 10.1046/j.1528-1157.2001.22700.x.