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Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder
Author(s) -
Service Susan,
Molina Julio,
DeYoung Joseph,
Jawaheer Damini,
Aldana Ileana,
Vu Thuy,
Bejarano Julio,
Fournier Eduardo,
Ramirez Magui,
Mathews Carol A.,
Davanzo Pablo,
Macaya Gabriel,
Sandkuijl Lodewijk,
Sabatti Chiara,
Reus Victor,
Freimer Nelson
Publication year - 2006
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.30323
Subject(s) - genetics , snp , genetic linkage , linkage (software) , biology , genome scan , genome , pedigree chart , lod score , snp array , chromosome , single nucleotide polymorphism , gene mapping , gene , microsatellite , allele , genotype
We have ascertained in the Central Valley of Costa Rica a new kindred (CR201) segregating for severe bipolar disorder (BP‐I). The family was identified by tracing genealogical connections among eight persons initially independently ascertained for a genome wide association study of BP‐I. For the genome screen in CR201, we trimmed the family down to 168 persons (82 of whom are genotyped), containing 25 individuals with a best‐estimate diagnosis of BP‐I. A total of 4,690 SNP markers were genotyped. Analysis of the data was hampered by the size and complexity of the pedigree, which prohibited using exact multipoint methods on the entire kindred. Two‐point parametric linkage analysis, using a conservative model of transmission, produced a maximum LOD score of 2.78 on chromosome 6, and a total of 39 loci with LOD scores >1.0. Multipoint parametric and non‐parametric linkage analysis was performed separately on four sections of CR201, and interesting (nominal P ‐value from either analysis <0.01), although not statistically significant, regions were highlighted on chromosomes 1, 2, 3, 12, 16, 19, and 22, in at least one section of the pedigree, or when considering all sections together. The difficulties of analyzing genome wide SNP data for complex disorders in large, potentially informative, kindreds are discussed. © 2006 Wiley‐Liss, Inc.