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Title: Lack of an independent association between the human leukocyte antigen allele DQA1*0501 and Graves` disease

Journal Article · · Journal of Clinical Endocrinology and Metabolism
;  [1]
  1. Mayo Clinic and Foundation, Rochester, MN (United States)

The association between the human leukocyte antigen (HLA) serotype DR3 and Graves` disease (GD) in Caucasian populations is well known. However, an even stronger association has been reported recently, especially in the male population, between the closely linked HLA allele DQA1*0501 and GD. We postulated that the reported association between DQA1*0501 and GD may be a result of the linkage of this allele with DR3 and may not represent an independent association. Accordingly, we screened a population of North American Caucasians (n=218), including patients with GD (n=101, 32 males, 69 females) and individuals with documented normal thyroid function (n=117, 51 males, 66 females), for the presence of the DQA1*0501 allele and those alleles corresponding to the DR3 serotype (DRB1*03). Screening was accomplished using sequence specific PCR. A significant association was documented in the total study population between DR3 positivity and GD (P=0.0002), but not between DQA1*0501 positivity and GD(P=0.06). After gender stratification, significant associations were found only in the female population (DR3, P=0.0004; DQA1*0501, P=0.012) and not in the male population (DR3, P=1.0;DQA1*0501,P=.0). Additionally, in those DR3 negative female subjects (n=100), there was no independent association between DQA1*0501 positivity (n=26) and GD (P=0.82). P-values were corrected, where appropriate, for gender stratification and/or the number of HLA alleles tested. In conclusion, our results demonstrated a lack of independent association between the presence of the HLA allele DAQ1*0501 and GD. We suggest that the apparent association between this allele and GD in the female population may be the result of its` close linkage to DR3. 21 refs., 7 tabs.

OSTI ID:
494173
Journal Information:
Journal of Clinical Endocrinology and Metabolism, Vol. 81, Issue 2; Other Information: PBD: Feb 1996
Country of Publication:
United States
Language:
English