Genome-wide linkage analysis for hypospadias susceptibility genes.
OBJECTIVE
Hypospadias, when the urethra opens on the underside of the penis, is a common malformation that occurs in about 1/300 boys. The etiology of hypospadias is unknown but several lines of evidence indicate that it is caused by the combined influence of genetic and environmental factors. To identify chromosomal loci involved in the pathogenesis of hypospadias we performed genome-wide linkage analysis.


METHODS
A total of 69 families with at least 2 members with hypospadias were genotyped with 360 microsatellite markers and analyzed with a nonparametric affected relative pair method. Of them 58 were of Swedish origin and 11 were from the Middle East.


RESULTS
Suggestive linkage was found at the 4 chromosome regions 9q22 (in all families), 2p11, 10p15 and 10q21 (in Swedish families).


CONCLUSIONS
These results provide a basis for outlining the genetic background of hypospadias.
Frisén
Louise
L
Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Söderhäll
Cilla
C
Tapper-Persson
Margareta
M
Luthman
Holger
H
Kockum
Ingrid
I
Nordenskjöld
Agneta
A
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D003198:Computer Simulation; D005006:Ethnicity / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008877:Middle East / Q000208:ethnology; D008957:Models, Genetic; D018709:Statistics, Nonparametric; D013548:Sweden
D005819:Genetic Markers