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Association analysis of the HOPA 12bp polymorphism in schizophrenia and manic depressive illness
Author(s) -
Kirov George,
Georgieva Ludmila,
Nikolov Ivan,
Zammit Stan,
Jones Gaynor,
Poriazova Nadezhda,
Tolev Todor,
Owen Richard,
Jones Sue,
Owen Michael J.
Publication year - 2002
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.10065
Subject(s) - allele , offspring , bipolar disorder , schizophrenia (object oriented programming) , allele frequency , polymorphism (computer science) , population , medicine , genetics , psychiatry , gene , biology , pregnancy , cognition , environmental health
Variations in exon 42 of the HOPA (human opposite paired) gene have been associated with mental retardation, hypothyroidism and psychiatric disorders. We attempted to replicate the association with schizophrenia using 309 parent‐offspring trios from Bulgaria and 367 unrelated cases and 368 blood donors from the UK. We also tested 125 bipolar trios from Bulgaria, 112 bipolar trios from the UK and a sample of 178 unrelated bipolar cases and 188 blood donors from the UK. The frequency of HOPA 12bp in the 556 UK blood donors was 2.6% and it was not significantly different in the UK patients groups, where it ranged from 1.2 to 3.8%. Sixteen mothers transmitted the HOPA 12bp allele to schizophrenic offspring, while 12 did not transmit, a non‐significant difference. There was a trend for under‐transmission of the rare allele to bipolar patients (T/NT = 4/10) and they had a lower rate of that allele than schizophrenic patients in the Bulgarian population (1% vs. 4.2%, P = 0.043). However the two diagnostic groups had similar allele frequencies in the UK populations: 2% versus 2.6%, P = 0.6. We conclude that the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia. © 2003 Wiley‐Liss, Inc.