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19号染色体短臂上影响总血清胆固醇的一个基因座:皮马印第安人血清脂质浓度常染色体基因组扫描结果

A locus influencing total serum cholesterol on chromosome 19p: results from an autosomal genomic scan of serum lipid concentrations in Pima Indians.

作者信息

Imperatore G, Knowler W C, Pettitt D J, Kobes S, Fuller J H, Bennett P H, Hanson R L

机构信息

Diabetes and Arthritis Epidemiology Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ 85014, USA.

出版信息

Arterioscler Thromb Vasc Biol. 2000 Dec;20(12):2651-6. doi: 10.1161/01.atv.20.12.2651.

Abstract

A genome-wide linkage study was analyzed to identify loci that influence serum lipid concentrations in Pima Indians. Linkage analyses were conducted for total cholesterol measured in 998 siblings from 292 nuclear families, for total triglycerides in 547 siblings from 188 families, and for high density lipoprotein (HDL) cholesterol in 590 siblings from 201 families. Genotypes were generated for 516 autosomal microsatellite markers. Multipoint variance components methods were used to assess linkage. The strongest evidence for linkage with total cholesterol was on chromosome 19p (lod score 3.89), in the vicinity of the marker D19S1034, which is near the low density lipoprotein receptor gene. The strongest evidence for linkage with HDL cholesterol was on chromosome 3q (lod score 2.64) near D3S3053. For triglycerides, the strongest evidence for linkage was on chromosome 2p near D2S1788 (lod score 1.70) and on chromosome 3p near D3S2406 (lod score 1.77). This genomic scan provides evidence for a locus influencing total cholesterol concentration on chromosome 19p. It also suggests a locus influencing HDL cholesterol on chromosome 3q.

摘要

开展了一项全基因组连锁研究,以确定影响皮马印第安人血清脂质浓度的基因座。对来自292个核心家庭的998名兄弟姐妹的总胆固醇、来自188个家庭的547名兄弟姐妹的总甘油三酯以及来自201个家庭的590名兄弟姐妹的高密度脂蛋白(HDL)胆固醇进行了连锁分析。对516个常染色体微卫星标记生成了基因型。采用多点方差成分法评估连锁情况。与总胆固醇连锁的最有力证据位于19号染色体短臂(对数优势分数3.89),在标记D19S1034附近,该标记靠近低密度脂蛋白受体基因。与HDL胆固醇连锁的最有力证据位于3号染色体长臂(对数优势分数2.64)靠近D3S3053处。对于甘油三酯,连锁的最有力证据位于2号染色体短臂靠近D2S1788处(对数优势分数1.70)以及3号染色体短臂靠近D3S2406处(对数优势分数1.77)。这项基因组扫描为19号染色体短臂上影响总胆固醇浓度的一个基因座提供了证据。它还提示了3号染色体长臂上影响HDL胆固醇的一个基因座。

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