Linkage analysis of a large swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23

• Published in: American journal of medical genetics 1999-08, Vol.88 (4), p.369-377
• Main Authors: Lindholm, Eva, Ekholm, Birgit, Balciuniene, Jorune, Johansson, Gunnel, Castensson, Anja, Koisti, Markus, Nylander, P.-O., Pettersson, Ulf, Adolfsson, Rolf, Jazin, Elena
• Format: Article
• Language: English
• Subjects: Adult and adolescent clinical studies; Alleles; Biological and medical sciences; chromosome 6; Chromosomes, Human, Pair 6; disease susceptibility; Female; Genetic Linkage; Genetic Markers; Genetic Predisposition to Disease; Genotype; Humans; Lod Score; Male; Medical sciences; Models, Statistical; Pedigree; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; Schizophrenia; Schizophrenia - genetics; Sweden
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19990820)88:4<369::AID-AJMG14>3.0.CO;2-9

Several reports have indicated genetic linkage between markers on the short arm of chromosome 6 and schizophrenia. However, significant threshold levels were not always achieved, and the chromosomal regions identified are large and different in different families. One way to decrease the problem of heterogeneity is to study a single extended pedigree. Here we report the analysis of a very large, previously undescribed pedigree from northern Sweden that includes 31 affected individuals. We typed 16 markers spanning 40 cM on the short arm of chromosome 6. Linkage analysis was performed only with the affected individuals. Suggestive lod scores (maximum 2.6) were obtained with markers on chromosome 6p23 in a single branch of the large pedigree indicating possible heterogeneity inside the family. A haplotype comprising markers from D6S309 to D6S1578 was found to segregate with the disease. This chromosomal region is included within a segment proposed to contain a susceptibility gene for schizophrenia by many other investigators. Our results thus give further support for a possible localization of a susceptibility locus for schizophrenia in 6p23 and help to narrow the candidate chromosomal region to the segment included between markers D6S309 and D6S1578. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:369–377, 1999. © 1999 Wiley‐Liss, Inc.