Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder

Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5;133B(1):12-7. doi: 10.1002/ajmg.b.30121.

Abstract

Genome-wide scans in bipolar disorder and a meta analysis on published data have provided evidence for linkage to chromosome 13q, although the reported peaks from various studies have not converged in a narrow region. Recently, single nucleotide polymorphisms (SNPs) at the G72/G30 locus have been shown to be associated with bipolar disorder suggesting its potential role in increasing disease risk. The proposed linkage region on 13q extends over a wide span, and could provide a clue to the existence of other susceptibility variants. In the present study, SNPs in the LOC93081-KDELC1-BIVM, a region proximal to G72, were interrogated in two bipolar family series. KDELC1 has a predicted filamin domain and BIVM contains an immunoglobulin-like motif. The small pedigree series yielded a nominally significant global P-value due to under-transmission of a rare haplotype but this finding was not supported by results from the larger series and in the case-control study that compared 278 cases and 277 controls.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Bipolar Disorder / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 13 / genetics*
  • Contractile Proteins / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Filamins
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Immunoglobulins / genetics
  • Linkage Disequilibrium*
  • Male
  • Microfilament Proteins / genetics
  • Microsatellite Repeats
  • Pedigree
  • Polymorphism, Single Nucleotide*

Substances

  • Contractile Proteins
  • Filamins
  • Immunoglobulins
  • Microfilament Proteins
  • DNA