IGHV3-Associated Restriction Fragment Length Polymorphisms Confer Susceptibility to Bullous Pemphigoid

Abstract

Objective: To determine whether the immunoglobulin heavy chain genes contribute to the occurrence of bullous pemphigoid (BP), polymorphisms of both the immunoglobulin constant IGHC and variable IGHV groups were studied in 100 Caucasian BP patients and 143 ethnically matched healthy individuals. Methods: To analyze the restriction fragment length polymorphism (RFLP) of the IGHG constant locus, a genomic immunoglobulin gamma 3 probe which detects polymorphisms in the gamma constant genes was hybridized to BstEII- or BamHI/SacI-digested germline DNA, while IGHV3 subgroup polymorphism was analyzed by hybridizing a cloned VH3 probe to EcoRI-digested DNA. Results: No difference in the frequencies of the genotypes defined by the constant probe was observed between patients and controls. Analysis of the RFLP obtained with the VH3 probe showed that within the range of 4.5 and 1.5 kb, the observed band pattern was composed of 8 monomorphic and 7 polymorphic bands. Among the latter, 4 allowed to define 10 different restriction patterns. One pattern was shown to be significantly less frequent in patients than in controls. Conclusion: IGHV3 polymorphism might be a factor conferring susceptibility to BP.

IMGT®Homo sapiens IG and TR Loci, Gene Order, CNV and Haplotypes: New Concepts as a Paradigm for Jawed Vertebrates Genome Assemblies

“…IMGT ® , http://www.imgt.org (accessed on 20 February 2022), the global reference in immunogenetics and immunoinformatics created by Marie-Paule Lefranc (LIGM, Université de Montpellier and CNRS), provides a unique scientific and computing frame for bridging loci, genes, alleles, sequences and structures of the IG or antibodies, TR and MH of the adaptive immune responses in humans and in other jawed vertebrates [167][168][169][170][171][172][173][174][175][176][177][178][179][180][181][182]. The IMGT standards are used for the description of the polymorphisms (genes, allotypes, alleles) [183][184][185][186][187][188][189][190], molecular mechanisms, genome evolution [191,192], susceptibility to diseases, autoimmunity, structure-functions, repertoire in infectious diseases [193][194][195][196][197][198], clonality and sequence analysis in leukemia and lymphoma [199][200][201][202][203][204][205][206], analysis of the content of the Fab and scFv combinatorial phage display libraries screened for identification of novel therapeutic antibody specificities…”

Immunoglobulins or Antibodies: IMGT® Bridging Genes, Structures and Functions

“…Thus the annotation of the IG and TR loci [ 78 , 322 , 323 , 324 , 325 , 326 , 327 ] are key to the study and comparison of the expressed adaptive immune repertoires, in normal or pathological situations. The IMGT standardized IG and TR genes and alleles in different species [ 328 , 329 , 330 , 331 , 332 , 333 , 334 , 335 , 336 , 337 , 338 , 339 , 340 , 341 , 342 , 343 , 344 , 345 , 346 , 347 , 348 , 349 , 350 , 351 , 352 , 353 , 354 , 355 , 356 , 357 , 358 , 359 , 360 , 361 , 362 ] offer a unique opportunity for comparison of immune responses and of potential applications in veterinary and human medicine.…”