Support for linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German families
Wei-dong PeiHeike BaronBertram Müller‐MyhsokHans KnoblauchSaid Ali Al‐YahyaeeRutai HuiXigui WuLisheng LiuAndreas BusjahnFriedrich C. LuftHerbert Schuster
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Abstract:
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.Keywords:
Genetic linkage
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The effect of feeding diets containing 75% glucose or fructose on liver triglyceride formation in the rat was studied by both in vivo and in vitro techniques. The results were compared with those from control rats fed laboratory chow.
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To report the linkage analysis of retinitis pigmentosa (RP) in an Indian family.Individuals were examined for symptoms of retinitis pigmentosa and their blood samples were withdrawn for genetic analysis. The disorder was tested for linkage to known 14 adRP and 22 arRP loci using microsatellite markers.Seventeen individuals including seven affecteds participated in the study. All affected individuals had typical RP. The age of onset of the disease ranged from 8-18 years. The disorder in this family segregated either as an autosomal recessive trait with pseudodominance or an autosomal dominant trait. Linkage to an autosomal recessive locus RP28 on chromosome 2p14-p15 was positive with a maximum two-point lod score of 3.96 at theta=0 for D2S380. All affected individuals were homozygous for alleles at D2S2320, D2S2397, D2S380, and D2S136. Recombination events placed the minimum critical region (MCR) for the RP28 gene in a 1.06 cM region between D2S2225 and D2S296.The present data confirmed linkage of arRP to the RP28 locus in a second Indian family. The RP28 locus was previously mapped to a 16 cM region between D2S1337 and D2S286 in a single Indian family. Haplotype analysis in this family has further narrowed the MCR for the RP28 locus to a 1.06 cM region between D2S2225 and D2S296. Of 15 genes reported in the MCR, 14 genes (KIAA0903, OTX1, MDH1, UGP2, VPS54, PELI1, HSPC159, FLJ20080, TRIP-Br2, SLC1A4, KIAA0582, RAB1A, ACTR2, and SPRED2) are either expressed in the eye or retina. Further study needs to be done to test which of these genes is mutated in patients with RP linked to the RP28 locus.
Genetic linkage
Locus heterogeneity
Lod score
Autosomal recessive trait
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【Objective】To investigate the correlation among serum triglyceride concentration,plasma factor Ⅶ clouting(FⅦc),tPA,PAI-I activity in 73 cases with coronary heart disease(CHD).【Methods】One hundred and fifty three cases were divided into four groups: 73 patients with CHD were divided into two groups based on serum triglyceride concentration.40 subjects with high triglyceride without CHD;another 40 subjects with normal triglyceride.The results in 73 patients with CHD and 40 subjects with high triglyceride were compared with those in 40 normal triglyceride.Serum triglyceride was measured by enzyme method.The plasma PA1-I,tPA activity were measured by spectrophotometry,the plasma FⅦc by one stage method.【Results】FⅦc and PAI-I activity in patients with CHD and in high serum triglyceride group were higher than those in normal triglyceride group.FⅦc and PAI-I activity in high triglyceride patients with CHD were significantly higher than those in high triglyceride cases without CHD.【Conclusion】Serum high triglyceride concentration is associatied with FⅦc,tPA and PAI-I.
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42 patients with acute cerebral stroke (average age 70, 83ą9, 95 years) were examined for fluctuations in the level of serum triglyceride, total cholesterol, HDL-cholesterot and LDL-cholesterol within 24 hours after the acute event and on the eight day after the onset of symptoms. Patients did not receive specific hipolipemic drugs during the treatment. On the first day average values of serum triglyceride were 1, 97ą0, 94 ; of total cholesterol 5, 99 ą1, 91 ; of HDL-cholesterol 0, 86ą0, 35 and of LDL-cholesterol 3, 91ą1, 63 mmol/L. On the eight day average values of triglyceride were 2, 26ą2, 31 ; of total cholesterol 4, 59ą1, 49 ; of HDL-cholesterol 1, 2ą0, 54 and of LDL-cholesterol 2, 91ą1, 17 mmol/L. The results revealed a statistically significant (p<0, 05) decrease in total cholesterol and LDL-cholesterol and statistically significaiit increase in HDL-cholesterol, while there was no statistically significant difference between levels of triglyceride. We. conclude that in patients with acute cerebral stroke, triglyceride, total cholesterol and LDL cholesterol is increased, due to stress and increased secretion of catecholamines. On the eight day there is decrease in serum levels of triglyceride, total cholesterol and LDL-cholesterol, while HDL-cholesterol is increased. These changes are probably due to dietary changes after stroke, besides the fact that stress inducing catecholamines overproduction is no long acting.
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