RHEUMATIC-FEVER AND THE HLA COMPLEX - A COSEGREGATION STUDY

RHEUMATIC-FEVER AND THE HLA COMPLEX - A COSEGREGATION STUDY

Author Gerbase-Lima, Maria Autor UNIFESP Google Scholar
Scala, Luiz Cesar Nazaro Autor UNIFESP Google Scholar
Temin, Julia Autor UNIFESP Google Scholar
Santos, D. V. Google Scholar
Otto, P. A. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
UNIV FED MATTO GROSSO
Abstract Background Considering the controversial results published in the literature concerning associations between human leukocyte antigens (HLA) and rheumatic fever (RF), the purpose of the present study was to investigate by means of cosegregation analysis the participation of HLA genes in susceptibility to RF.Methods and Results The sample reported here was composed of 51 affected and 66 healthy individuals belonging to 22 genetically informative families. The comparison (X(2) goodness-of-fit test) of the observed numbers of identical-bydescent (IBD) HLA haplotypes among all affected individuals (siblings, cousins, and uncle/nephew and grandparent/grandchild type of pairs) with the expected ones under the assumption of independent segregation of HLA alleles and the presumptive RF susceptibility gene gave a value of P=.088. Since the number of subjects studied was relatively small and the rejection level obtained was near the usual .05 significance level, we calculated the expected HLA IBD scores in the 13 pairs of affected sibs of our sample for all possible frequencies of the presumptive RF susceptibility gene. This analysis allowed clear rejection of a recessive mode, considering susceptibility gene frequencies lower than 20%, whereas the observed values fitted very well a dominant mode of inheritance, with penetrance CK) values varying between 0.5 and 0.9 and a frequency of the susceptibility gene of at least 1%.Conclusions The present data support the hypothesis of an RF susceptibility gene within or very near the HLA complex.
Keywords RHEUMATIC HEART DISEASE
LEUKOCYTES
ANTIGENS
GENETICS
Language English
Date 1994-01-01
Published in Circulation. Dallas: Amer Heart Assoc, v. 89, n. 1, p. 138-141, 1994.
ISSN 0009-7322 (Sherpa/Romeo, impact factor)
Publisher Amer Heart Assoc
Extent 138-141
Origin https://doi.org/10.1161/01.CIR.89.1.138
Access rights Open access Open Access
Type Article
Web of Science ID WOS:A1994MQ58400020
URI http://repositorio.unifesp.br/11600/43278

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