Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families

Weidong Pei, Heike Baron, Bertram Müller-Myhsok, Hans Knoblauch, Said Ali Al-Yahyaee, Rutai Hui, Xigui Wu, Lisheng Liu, Andreas Busjahn, Friedrich C. Luft*, Herbert Schuster

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

73 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)29-34
Number of pages6
JournalClinical Genetics
Issue number1
Publication statusPublished - 2000
Externally publishedYes


  • Chromosome 1q
  • Familial combined hyperlipidemia
  • Retinoid X receptor

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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