Rankinen T, An P, Rice T, Sun G, Chagnon Y C, Gagnon J, Leon A S, Skinner J S, Wilmore J H, Rao D C, Bouchard C
Pennington Biomedical Research Center, Human Genomics Laboratory, Baton Rouge, LA 70808-4124, USA.
Hypertension. 2001 Jul;38(1):30-7. doi: 10.1161/01.hyp.38.1.30.
Agenome-wide linkage scan was performed for genes affecting submaximal exercise systolic blood pressure (SBP) and diastolic blood pressure (DBP) in the sedentary state and their responses to a standardized endurance training program. A total of 344 polymorphic markers were used, and 344 pairs of siblings from 99 white nuclear families and 102 sibling pairs from 105 black family units were available for the study. All subjects were healthy but sedentary at baseline. SBP and DBP were measured during exercise tests at 2 different intensities: 50 W (SBP50 and DBP50) and 80% of maximal oxygen consumption (SBP80 and DBP80). Baseline blood pressure phenotypes were adjusted for age, gender, and body mass index, and the training responses (after training minus baseline [Delta]) were adjusted for age, gender, baseline body mass index, and baseline blood pressure. Two analytical strategies were used: a multipoint variance-components linkage analysis using all the family data and a single-point linkage analysis using pairs of siblings. In whites, promising linkages (lod score >1.75) were detected for baseline SBP80 on 10q23-q24 and for DeltaSBP50 on 8q21. In addition, several chromosomal regions with suggestive evidence of linkage (lod score 1.0 to 1.75) were observed for SBP50 (22q11.2-q13), DBP50 (6q23-q27), SBP80 (2p24, 2q21, 14q11.1-q12, and 16q21), DBP80 (6q13-q21), DeltaSBP50 (7p12-p13), and DeltaDBP50 (5q31-q32). In blacks, DBP50, DBP80, and DeltaDBP80 showed promising quantitative trait loci on 18p11.2, 11q13-q21, and 10q21-q23, respectively. Suggestive linkages were evident for DBP50 on 2p22-p25, 11p15.5, and 18q21.1; for SBP80 on 6q21-q21, 6q31-q36, 12q12-q13, 15q12-q13, and 17q11-q12; and for DBP80 on 8q24, 10q21-q24, and 12p13. All the detected chromosomal regions include several potential candidate genes and therefore warrant further studies in the Health, Risk Factors, Exercise Training and Genetics (HERITAGE) cohort and other studies.
针对影响久坐状态下次极量运动收缩压（SBP）和舒张压（DBP）的基因及其对标准化耐力训练计划的反应，进行了全基因组连锁扫描。共使用了344个多态性标记，来自99个白种人核心家庭的344对同胞以及来自105个黑人家庭单元的102对同胞可用于该研究。所有受试者在基线时均健康但久坐不动。在两种不同强度的运动测试中测量SBP和DBP：50瓦（SBP50和DBP50）以及最大耗氧量的80%（SBP80和DBP80）。对基线血压表型进行年龄、性别和体重指数调整，对训练反应（训练后减去基线[差值]）进行年龄、性别、基线体重指数和基线血压调整。使用了两种分析策略：使用所有家庭数据的多点方差成分连锁分析以及使用同胞对的单点连锁分析。在白种人中，在10q23 - q24上检测到基线SBP80以及在8q21上检测到ΔSBP50有显著连锁（对数优势比分>1.75）。此外，观察到SBP50（22q11.2 - q13）、DBP50（6q23 - q27）、SBP80（2p24、2q21、14q11.1 - q12和16q21）、DBP80（6q13 - q21）、ΔSBP50（7p12 - p13）和ΔDBP50（5q31 - q32）有几个具有连锁暗示证据（对数优势比分1.0至1.75）的染色体区域。在黑种人中，DBP50、DBP80和ΔDBP80分别在18p11.2、11q13 - q21和10q21 - q23上显示出显著的数量性状位点。在2p22 - p25、11p15.5和18q21.1上观察到DBP50有暗示性连锁；在6q21 - q21、6q31 - q36、12q12 - q13、15q12 - q13和17q11 - q12上观察到SBP80有暗示性连锁；在8q24、10q21 - q24和12p13上观察到DBP80有暗示性连锁。所有检测到的染色体区域都包含几个潜在的候选基因，因此需要在健康、风险因素、运动训练与遗传学（HERITAGE）队列及其他研究中进一步研究。
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