TY - JOUR
T1 - Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families
AU - Pei, Weidong
AU - Baron, Heike
AU - Müller-Myhsok, Bertram
AU - Knoblauch, Hans
AU - Al-Yahyaee, Said Ali
AU - Hui, Rutai
AU - Wu, Xigui
AU - Liu, Lisheng
AU - Busjahn, Andreas
AU - Luft, Friedrich C.
AU - Schuster, Herbert
PY - 2000
Y1 - 2000
N2 - We examined familial combined hyperlipidemia (FCHL) families from nonisolated regions in Germany and China to see if we could corroborate support for a chromosome 1q FCHL locus in more general populations. We recruited 24 German families with 137 members, 92 of whom met the criteria of affected in terms of the low density lipoprotein (LDL) and triglyceride levels in excess of the 90th percentile for age and gender. In China, we recruited 12 families with a total of 81 members. All affected persons had total cholesterol concentrations > 240 mg/dl and triglyceride concentrations > 250 mg/dl. We examined the markers APOA2, D1S1677, D1S104, D1S194, D1S426, and D1S196. Two-point linkage analysis allowing for heterogeneity gave a maximum linkage of disorder score (HLOD) of 2.60 right over D1S194, estimating the proportion of linked families at 36%. This marker is adjacent to D1S104. The evidence for linkage was roughly the same both in the German (HLOD 1.40) and Chinese families (HLOD 1.52). Marker D1S194 is close to the retinoid X receptor (RXR) gene locus, which was found to be linked to triglyceride levels in an earlier twin study from our laboratory. We interpret our observations as encouraging support for the recent findings indicating the presence of a gene for FCHL on chromosome 1q. Furthermore, since D1S194 is adjacent to the gene for the RXR, we suggest that RXR is an attractive candidate for involvement in FCHL.
AB - We examined familial combined hyperlipidemia (FCHL) families from nonisolated regions in Germany and China to see if we could corroborate support for a chromosome 1q FCHL locus in more general populations. We recruited 24 German families with 137 members, 92 of whom met the criteria of affected in terms of the low density lipoprotein (LDL) and triglyceride levels in excess of the 90th percentile for age and gender. In China, we recruited 12 families with a total of 81 members. All affected persons had total cholesterol concentrations > 240 mg/dl and triglyceride concentrations > 250 mg/dl. We examined the markers APOA2, D1S1677, D1S104, D1S194, D1S426, and D1S196. Two-point linkage analysis allowing for heterogeneity gave a maximum linkage of disorder score (HLOD) of 2.60 right over D1S194, estimating the proportion of linked families at 36%. This marker is adjacent to D1S104. The evidence for linkage was roughly the same both in the German (HLOD 1.40) and Chinese families (HLOD 1.52). Marker D1S194 is close to the retinoid X receptor (RXR) gene locus, which was found to be linked to triglyceride levels in an earlier twin study from our laboratory. We interpret our observations as encouraging support for the recent findings indicating the presence of a gene for FCHL on chromosome 1q. Furthermore, since D1S194 is adjacent to the gene for the RXR, we suggest that RXR is an attractive candidate for involvement in FCHL.
KW - Chromosome 1q
KW - Familial combined hyperlipidemia
KW - Retinoid X receptor
UR - http://www.scopus.com/inward/record.url?scp=0033984185&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033984185&partnerID=8YFLogxK
U2 - 10.1034/j.1399-0004.2000.570105.x
DO - 10.1034/j.1399-0004.2000.570105.x
M3 - Article
C2 - 10733233
AN - SCOPUS:0033984185
SN - 0009-9163
VL - 57
SP - 29
EP - 34
JO - Clinical Genetics
JF - Clinical Genetics
IS - 1
ER -