Study Report

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Basic Info

Reference	Service, S.,2006 PMID: 16652356
Citation	Service, S., J. Molina, et al. (2006). "Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder." Am J Med Genet B Neuropsychiatr Genet 141B(4): 367-373.
Disease Type	Bipolar I Disorder
Study Design	pedigree
Study Type	Genome-wide linkage study
Sample Size	Pedigree CR201 with 168 members
SNP/Region/Marker Size	4,690 SNP markers for whole genome wide
Predominant Ethnicity
Population	Costa Rican

Detail Info

Sample Diagnosis	DSM
Sample Status	Pedigree CR201 was constructed with the help of family members and using extensive genealogical records. The total pedigree is comprised of over 300 known individuals; however, for this linkage study, the pedigree was restricted to 168 members in branches of the pedigree that appeared to be segregating for the highest density of possible BP-I subjects. Genotype data were available for 82 members of this pedigree. Persons in this portion of the family were interviewed in Spanish by a research psychiatrist using the diagnostic interview for genetic studies (DIGS). The interviews and any medical records were then independently reviewed by two blinded best estimators (VR, CAM, PD) to reach a consensus diagnosis based on the revised third edition of the diagnostic and statistical manual [DSM-IIIR, American Psychiatric Association, 1987].
Technique	genotyping
Statistical Method	Two point parametric linkage analysis was performed using MENDEL.
Result Summary	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.

Regions reported by this study for BD (count: 24)

Region	Statistical Values	Author Comments	Result Category
2p25	Two point parametric linkage analysis: for marker rs1309, LOD = 1.0741; for marker rs728282, LOD = 1.0741; for marker rs730990, LOD = 1.1316	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
2q24	Two point parametric linkage analysis: LOD = 1.2767	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
21p12	Two point parametric linkage analysis: LOD = 2.2118	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
2p16	Two point parametric linkage analysis: for marker rs1504188, LOD = 1.3319; for marker rs715271, LOD = 1.2135; for marker rs1504188, LOD = 1.3319; for marker rs715271, LOD = 1.2135	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
18p11	Two point parametric linkage analysis: LOD = 1.2365	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
1p33	Two point parametric linkage analysis: LOD = 2.3095	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
14q13	Two point parametric linkage analysis: LOD = 1.6308	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
16p12	Two point parametric linkage analysis: for marker rs2031077, LOD = 1.0654; for marker rs741720, LOD = 1.0868	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
6q14	Two point parametric linkage analysis: LOD = 2.7845	Suggestive linkage was found in this region. Suggestive linkage was found in this region.	Trend
6q25	Two point parametric linkage analysis: LOD = 1.5169	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
5p14	Two point parametric linkage analysis: LOD = 1.4304	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
5q11	Two point parametric linkage analysis: for marker rs831791, LOD = 1.5249; for marker rs831818, LOD = 1.5247	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
3p24	Two point parametric linkage analysis: LOD = 1.1684	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
3p25	Two point parametric linkage analysis: LOD = 1.1442	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
10p15	Two point parametric linkage analysis: LOD = 1.3298 for marker rs1041226; LOD = 1.3298 for marker rs104122	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
10p14	Two point parametric linkage analysis: LOD = 1.5749	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
13q12	Two point parametric linkage analysis: LOD = 1.231	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
12q24	Two point parametric linkage analysis: LOD = 1.2036	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
13q21	Two point parametric linkage analysis: LOD = 1.1222	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
13q14	Two point parametric linkage analysis: LOD = 1.0458	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
11p15	Two point parametric linkage analysis: LOD = 1.4141	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
10q21	Two point parametric linkage analysis: LOD = 1.2033	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
12q21	Two point parametric linkage analysis: LOD = 1.252	No significant linkage was found in this region. No significant linkage was found in this region.	Negative
12p13	Two point parametric linkage analysis: LOD = 1.3889	No significant linkage was found in this region. No significant linkage was found in this region.	Negative