| Summary: | <p>Abstract</p> <p>Background</p> <p>A mannosyltransferase gene (<it>ALG9</it>, <it>DIBD1</it>) at chromosome band 11q23 was previously identified to be disrupted by a balanced chromosomal translocation t(9;11)(p24;q23) co-segregating with bipolar affective disorder in a small family. Inborn ALG9 deficiency (congenital disorders of glycosylation type IL) is associated with progressive microcephaly, seizures, developmental delay, and hepatomegaly. It is unknown whether common variations of <it>ALG9 </it>predispose to bipolar affective disorder.</p> <p>Methods</p> <p>We tested five polymorphic markers spanning <it>ALG9 </it>(three intragenic and one upstream microsatellite repeats and one common missense variation, V289I (rs10502151) for their association with bipolar I disorder in two pedigree series. The NIMH (National Institute of Mental Health) pedigrees had a total of 166 families showing transmissions to 250 affected offspring, whereas The PITT (The University of Pittsburgh) pedigrees had a total of 129 families showing transmissions to 135 cases. We used transmission disequilibrium test for the association analyses.</p> <p>Results</p> <p>We identified three common and distinct haplotypes spanning the <it>ALG9 </it>gene. We found no statistically-significant evidence of transmission disequilibrium of marker alleles or multi-marker haplotypes to the affected offspring with bipolar I disorder.</p> <p>Conclusion</p> <p>These results suggest that common variations in <it>ALG9 </it>do not play a major role in predisposition to bipolar affective disorder.</p>
|
|---|
