Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.
Common variable immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). Vorechovský et al. (Am J Hum Genet 64:1096-1109, 1999; J Immunol 164:4408-4416, 2000) ascertained and genotyped 101 multiplex IgAD families and used them to identify and fine map the IGAD1 locus on chromosome 6p. We analyzed the original genotype data in a subset of families with at least one case of CVID and present evidence of a CVID locus on chromosome 16q with autosomal dominant inheritance. The peak (model-based) LOD score for the best marker D16S518 is 2.83 at theta=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with alpha=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001).
Schäffer
Alejandro A
AA
Department of Health and Human Services, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg. 38A/Rm. 6S608; 8600 Rockville Pike, Bethesda, MD 20894, USA. schaffer@helix.nih.gov
Pfannstiel
Jessica
J
Webster
A David B
AD
Plebani
Alessandro
A
Hammarström
Lennart
L
Grimbacher
Bodo
B
D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D017074:Common Variable Immunodeficiency / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D008126:Lod Score