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C Bouchard

Publications and source records attributed to C Bouchard.

At least 19 recordsLinked to original sources

Familial risk of obesity and central adipose tissue distribution in the general Canadian population.

The purpose of this study was to determine the familial risk of obesity and of an android profile of fat distribution in the general Canadian population. A sample of 15,245 participants aged 7-69 years from 6,377 households from the Canada Fitness Survey of 1981 was used. The body mass index (BMI), sum of five skinfolds (SF5), ratio of trunk-to-extremity skinfolds, adjusted for SF5, and waist circumference, adjusted for BMI were used as indicators of obesity and central fat distribution. Age- and sex-standardized risk ratios (SRRs) for spouses and first-degree relatives of obese probands indicate that there is significant familial risk for obesity and an android fat distribution in the Canadian population. SRRs for spouses and first-degree relatives of probands exceeding the 99th percentile are 3.01 and 4.96 for BMI, 7.36 and 4.15 for SF5, 1.41 and 3.18 for ratio of trunk-to-extremity skinfolds, adjusted for SF5, and 1.02 and 2.18 for waist circumference, adjusted for BMI, respectively. The SRRs are smaller for less extreme obesity (lower percentile cutoffs) than for more extreme obesity. The SRRs are greater in spouses than in first-degree relatives for SF5; however, the risk for BMI and an android fat distribution was greater among first-degree relatives than among spouses, suggesting a greater role for genetic factors.

Adipose Tissue

Effect of long-term administration of antidepressant treatments on serotonin release in brain regions involved in obsessive-compulsive disorder.

BACKGROUND: Among all antidepressant treatments, including electroconvulsive shock (ECS) therapy and monoamine oxidase inhibitors (MAOIs), only the selective serotonin (5-HT) reuptake inhibitors (SSRIs) exert a clear therapeutic effect in obsessive-compulsive disorder (OCD). An 8-week, but not a 3-week treatment with the SSRI paroxetine results in an increased electrically evoked [3H]5-HT release and a desensitization of 5-HT autoreceptors in the guinea pig orbitofrontal cortex, a brain region implicated in OCD. METHODS: In the present study, the effect of long-term treatment with the SSRI fluoxetine, ECS, and the reversible type A MAOI moclobemide was investigated on evoked [3H]5-HT release from preloaded guinea pig brain slices prepared from the hypothalamus, cingulate cortex, and orbitofrontal cortex. RESULTS: Fluoxetine treatment yielded an enhanced [3H]5-HT release in the three brain areas, but a desensitization of the 5-HT autoreceptor only in the hypothalamus and orbitofrontal cortex. ECS treatment did not result in any alteration of the electrically evoked [3H]5-HT release or of 5-HT autoreceptor sensitivity in any of the brain regions. Moclobemide increased [3H]5-HT release only in the orbitofrontal cortex without any alteration in the 5-HT autoreceptor sensitivity. CONCLUSIONS: These findings indicate that only treatments effective in OCD have the capacity to desensitize the terminal 5-HT autoreceptor in the orbitofrontal cortex.

Animals

Familial aggregation of body mass index and subcutaneous fat measures in the longitudinal Québec family study.

Family resemblance for several measures of body fat and fat distribution was explored in the longitudinal Québec Family Study (QFS), including an overall measure of adiposity (body mass index, BMI), total subcutaneous fat (the sum of 6 skinfolds, SF6), and subcutaneous fat distribution (the trunk to extremity ratio, TER). Repeated measures were taken twice approximately 12 years apart. A longitudinal familial correlation model was used to assess familial resemblance at each of times 1, 2, and cross-time, and a univariate model was used for the change score. The change score was assumed to index the degree to which different familial factors impacted on the longitudinal resemblance, while the cross-time comparisons indexed similar familial factors across time. For BMI, the maximal heritability was 44 and 36% at times 1 and 2, respectively, 37% for the change score, and 33-43% for the cross-time comparison. While the etiology of the BMI familial effect at times 1, 2, and cross-time was assumed to be primarily polygenic, that for the change score was a function of cohort effects (environmental). For SF6, the maximal heritability (primarily genetic) was low at time 1 and for the change score (16%), but was nonsignificant at time 2 and cross-time. For TER, the maximal heritabilities were significant for each of times 1 (42%), 2 (40%), change score (59%), and cross-time comparisons (35-36%). In summary, simple univariate familial correlation analysis of the change scores and bivariate analysis of the longitudinal measures are useful in delineating the underlying factors leading to both change and stability across time.

Adipose Tissue

The human obesity gene map: the 1998 update.

An update of the human obesity gene map incorporating published results up to the end of October 1998 is presented. Evidence from the human obesity cases caused by single gene mutations; other Mendelian disorders exhibiting obesity as a clinical feature; quantitative trait loci uncovered in human genome-wide scans and in crossbreeding experiments with mouse, rat, and pig models; association and case-control studies with candidate genes; and linkage studies with genes and other markers is reviewed. The most noticeable changes from the 1997 update is the number of obesity cases due to single gene mutations that increased from three cases due to mutations in two genes to 25 cases due to 12 mutations in seven genes. A look at the obesity gene map depicted in Figure 1 reveals that putative loci affecting obesity-related phenotypes are found on all but chromosome Y of the human chromosomes. Some chromosomes show at least three putative loci related to obesity on both arms (1, 2, 3, 6, 7, 8, 9, 11, 17, 19, 20, and X) and several on one chromosome arm only (4q, 5q, 10q, 12q, 13q, 15q, 16p, and 22q). The number of genes and other markers that have been associated or linked with human obesity phenotypes is increasing very rapidly and now approaches 200.

Animals

Segregation analysis of body mass index in a large sample selected for obesity: the Swedish Obese Subjects study.

OBJECTIVE: To investigate a major gene hypothesis for body mass index (BMI) in a large sample of probands (n = 2580, ages 37-57 years) who were selected for obesity (BMI> or =34 kg/m2 for males and > or =38 kg/m2 for females), along with their spouses and first-degree relatives (n = 11,204 family members). The probands were recruited as part of an intervention trial assessing whether mortality and morbidity were improved after surgical intervention for obesity as part of the Swedish Obese Subjects (SOS) study. METHODS AND PROCEDURES: The current analyses were based on BMI measures obtained before intervention. Segregation analysis was carried out using the mixed model implementation in PAP (Pedigree Analysis Package), which allowed for ascertainment correction and for genotype-dependent effects of covariates (sex and age) in both the major gene component and the multifactorial (i.e., polygenic and familial environment) component. RESULTS: Both a major effect and a multifactorial effect were significant. The percentage of the total variance accounted for by the multifactorial effect was 17%-24% (increasing as a function of age), and by the major effect, 8%-34% (decreasing as a function of age). Although tests on the transmission probabilities (taus) were not compatible with Mendelian expectations of 1, 1/2, and 0, the equal taus model was rejected (i.e., the effect is transmitted in families) and the point estimates (0.96, 0.60, and 0.17) compared favorably to Mendelian expectations. The major effect was transmitted in a codominant fashion, consistent with a gene-environment interaction. DISCUSSION: These results suggest both multifactorial and major effect etiologies for BMI in these families of extremely obese probands. Before 20 years of age, the major effect dominates the BMI expression, but after age 20, multifactorial effects account for the most variance. Although the major effect is transmitted in these families, the pattern does not appear to be consistent with a simple Mendelian trait. The possibility of additional major loci (i.e., epistasis) and gene by environment interactions may explain these findings.

Adult

The use of anthropometric and dual-energy X-ray absorptiometry (DXA) measures to estimate total abdominal and abdominal visceral fat in men and women.

OBJECTIVE: A single-slice computed tomography (CT) scan provides a criterion measure of total abdominal fat (TAF) and abdominal visceral fat (AVF), but this procedure is often prohibitive due to radiation exposure, cost, and accessibility. In the present study, the utility of anthropometric measures and estimates of trunk and abdominal fat mass by dual-energy X-ray absorptiometry (DXA) to predict CT measures of TAF and AVF (cross-sectional area, cm2) was assessed. RESEARCH METHODS AND PROCEDURES: CT measures of abdominal fat (at the level of the L4-L5 inter-vertebral space), DXA scans, and anthropometric measures were obtained in 76 Caucasian adults ages 20-80 years. RESULTS: Results demonstrated that abdominal sagittal diameter measured by anthropometry is an excellent predictor of sagittal diameter measured from a CT image (r=0.88 and 0.94; Total Error [TE]=4.1 and 3.1 cm, for men and women, respectively). In both men and women, waist circumference and abdominal sagittal diameter were the anthropometric measures most strongly associated with TAF (r=0.87 to 0.93; Standard Error of Estimate (SEE)=60.7 to 75.4 cm2) and AVF (r=0.84 to 0.93; SEE=0.7 to 30.0 cm2). The least predictive anthropometric measure of TAF or AVF was the commonly used waist-to-hip ratio (WHR). DXA estimates of trunk and abdominal fat mass were strongly associated with TAF (r=.94 to 0.97; SEE=36.9 to 50.9 cm2) and AVF (r=0.86 to 0.90; SEE=4.9 to 27.7 cm2). DISCUSSION: The present results suggest that waist circumference and/or abdominal sagittal diameter are better predictors of TAF and AVF than the more commonly used WHR. DXA trunk fat and abdominal fat appear to be slightly better predictors of TAF but not AVF compared to these anthropometric measures. Thus DXA does not offer a significant advantage over anthropometry for estimation of AVF.

Abdomen

Responsibility and perfectionism in OCD: an experimental study.

Cognitive models of obsessive-compulsive disorder (OCD) suggest a number of different variables that may play a role in the development and maintenance of obsessive compulsive symptoms [Freeston, M. H., Rhéaume, J., & Ladouceur, R. (1996) Correcting faulty appraisals of obsessional thoughts. Behaviour Research and Therapy, 34, 433-446]. This study's aim was to verify the effect of perfectionism and excessive responsibility on checking behaviors and related variables. Twenty-four moderately perfectionistic subjects (MP) and 27 highly perfectionistic subjects (HP) were submitted to a manipulation of responsibility (low and high). After each manipulation, they had to perform a classification task during which checking behaviors were observed. Results indicate that more checking behaviors (hesitations, checking) occurred in the high responsibility condition than in the low responsibility condition for subjects of both groups. After executing the task in the high responsibility condition, HP subjects reported more influence over and responsibility for negative consequences than MP subjects. These results suggest that high perfectionistic tendencies could predispose individuals to overestimate their perceived responsibility for negative events. Furthermore, perfectionism could be conceived as playing a catalytic role in the perception of responsibility. Results are discussed according to cognitive models of OCD.

Adult

Psychometric appraisal of the Scale for Interpersonal Behavior (SIB) in France.

The present study was carried out in France to evaluate the reliability and validity of the Scale for Interpersonal Behavior (SIB), a multidimensional measure of difficulty and distress in assertiveness that was originally developed in The Netherlands. This appraisal was conducted with a clinical sample (N = 166) and a general population sample (N = 150). The clinical series comprised 115 patients with social phobia and 51 patients with personality disorder, 28 of whom were of the avoidant type. Support was found for internal consistency and test-retest reliability of the French SIB. Compared to controls, both social phobics and patients with an avoidant personality disorder had significantly lower mean scores on all performance scales and significantly higher ones on all distress scales, with the social phobics occupying a position in between. Findings in relation to convergent and divergent validity were quite satisfactory. Sensitivity of the French SIB for detecting change was demonstrated in a subgroup of the clinical Ss who had undergone 15 sessions of cognitive-behavioral group therapy for underassertiveness.

Adult

Plasma post-heparin lipase activities in the HERITAGE Family Study: the reproducibility, gender differences, and associations with lipoprotein levels. HEalth, RIsk factors, exercise Training and GEnetics.

OBJECTIVES: Examine the reproducibility of plasma lipid and lipoprotein measurements in the HERITAGE Family Study. DESIGN AND METHODS: In a sample of 379 subjects (191 men and 188 women), reproducibility was determined for lipids, lipoproteins (done on two occasions) and post-heparin lipase assays using an Intracenter Quality Control study by generating split samples from an additional 60 subjects (35 men and 25 women), which were assayed in a blind fashion by the lipid core laboratory. Reproducibility was estimated using intraclass correlation coefficients (ICC) for the selected variables. Analytical error (ANER) and coefficient of variation (CV) were also calculated. Day-to-day variation for 10 variables including plasma cholesterol and triglycerides (TG), HDL-cholesterol and its subfractions HDL2-cholesterol and HDL3-cholesterol, LDL-cholesterol and VLDL-cholesterol, as well as apoprotein (apo) A-I, apo B, and LDL-apo B were assessed. RESULTS: In the HERITAGE study, all lipid and lipoprotein variables had ICC above 0.79. Plasma VLDL-cholesterol (31 %) and TG (23%) levels, which are well known to be highly variable from one day to another, had CVs greater than 20%. Other variables had CVs lower than 10% except for HDL2-cholesterol which reached 16%. In the intracenter reliability sub-study, the measurement errors were found to be low except for HDL2-cholesterol. For the lipases, the reproducibility of repeated samples was very high, with ICC over 0.95. The within-assay CV corresponded to 2.1 and 5.3% for hepatic lipase (HL) and lipoprotein lipase (LPL), respectively, whereas the between-assay CV reached 8-12% for HL and about 15% for LPL. Due to the complexity of these two assays, the results are considered to be quite satisfactory. CONCLUSIONS: The reproducibility of plasma lipid and lipoprotein measurements, as well as of post-heparin lipase activities, is good in the multicenter HERITAGE Family Study. In addition, the well-documented gender difference in the plasma lipoprotein profile was confirmed in the present study, women having lower fasting triglyceride and LDL-cholesterol levels than men as well as reduced cholesterol/HDL-cholesterol and increased HDL2-cholesterol/ HDL3-cholesterol ratios compared to men. Results of the present study support the notion that the higher LPL and low HL activities found in women compared to men are important factors contributing to explain gender difference in the lipoprotein profile. However, additional factors not examined in the present study are involved beyond the contribution of post-heparin lipase to the sex dimorphism in plasma lipoprotein levels.

Female

Evidence of a major locus for lipoprotein lipase (LPL) activity in addition to a pleiotropic locus for both LPL and fasting insulin: results from the HERITAGE Family Study.

A major gene hypothesis for heparin releasable plasma lipoprotein lipase (PH-LPL) activity was assessed using segregation analyses of data on 495 members in 98 normolipidemic sedentary families of Caucasian descent who participated in the HERITAGE Family Study. Segregation analyses were performed on PH-LPL adjusted for age, and on PH-LPL activity adjusted for age and fasting insulin. Prior to adjustment for insulin, neither a major gene effect nor a multifactorial component could be rejected, and support for a major gene was equivocal i.e. neither the Mendelian transmission nor the no transmission (equal tau s) models were rejected. However, after adjusting for the effects of insulin, a major gene effect on PH-LPL activity was unambiguous. The putative locus accounted for 60% of the total phenotypic variance, and the homozygous recessive form affected 10% (q2) of the sample (i.e. gene frequency (q) = 0.31), and led to a low PH-LPL value. The lack of a significant multifactorial effect suggested that the familial etiology of PH-LPL activity adjusted for insulin was likely to be primarily a function of the major locus. In conclusion, the present study is the first to report segregation analyses on PH-LPL activity prior to and after adjusting for insulin, and suggests that there is an indication of a pleiotropic genetic effect on PH-LPL activity and insulin, in addition to a major gene effect on PH-LPL activity alone.

Adolescent

Plasma adrenal, gonadal, and conjugated steroids following long-term exercise-induced negative energy balance in identical twins.

There are few reports of the change in sex hormone levels accompanying a weight change in men, although an excessive decline in testosterone (TESTO) has been described as an associate of stress-induced weight loss. Plasma levels of cortisol, TESTO, dihydrotestosterone (DHT), dehydroepiandrosterone sulfate (DHEA-S), androsterone glucuronide (ADT-G), and androstane-3alpha, 17beta-diol glucuronide (3alphaDIOL-G) were measured in seven pairs of sedentary male monozygotic twins (age, 21.0 +/- 0.8 years; body mass index [BMI], 26.2 +/- 5.5 kg/m2) before and after 93 days of standardized submaximal (50% to 55% maximum oxygen consumption) cycle-ergometer exercise. A total energy deficit of 244 +/- 9.7 MJ induced significant changes (P < .0001) in body weight ([BW] -5.0 +/- 2.2 kg) and body fatness measures. Plasma TESTO and DHEA-S increased and 3alphaDIOL-G decreased. The increase in TESTO was a significant inverse correlate of loss in all measures of body fat, particularly central adiposity (r = -.58 to -.86, P < .001, fat loss-adjusted). Lower postexercise levels of 3alphaDIOL-G correlated positively with decreased body composition measures (r = .65 to .68, P < .01). The increase in plasma TESTO accompanying the loss of abdominal visceral fat (AVF) was greater in men with lower fasting insulin levels (P < .0001). The baseline within-twin-pair resemblance in TESTO and 3alphaDIOL-G (intraclass correlation coefficients [ICC] = .83 and .78, respectively, P < .01) was lost with intervention. Cortisol, DHEA-S, and ADT-G developed within-twin-pair similarity (ICC adjusted for fat loss: cortisol, .72; ADT-G, .62, P < .05; DHEA-S, .85, P < .002). We conclude that a steroid profile characterized by high TESTO and low androgen metabolite levels accompanied the changes in body composition and body fat distribution generated by the exercise-induced negative energy balance. Furthermore, these changes were characterized by a significant resemblance within identical-twin pairs.

Adult

[Spinal cord compression due to tophaceous vertebral gout: a case report and literature review].

INTRODUCTION: Acute gout arthritis and tophaceous gout of the spine is rare. EXEGESIS: We report the case of a 54-year-old man with chronic low back pain. Physical examination and myelography showing neurological compression on L4 laminectomy evidenced tophaceous gout. CONCLUSION: Gout arthritis should always be suspected and investigated in patients with either chronic low back pain or non-specific spinal cord compression.

Arthritis, Gouty

Familial aggregation of resting blood pressure and heart rate in a sedentary population: the HERITAGE Family Study. Health, Risk Factors, Exercise Training, and Genetics.

The familial aggregation of resting systolic blood pressure (SBP), diastolic blood pressure (DBP), and heart rate (HR) was assessed in 98 white families, who participated in the HERITAGE Family Study, and were selected to be sedentary, and primarily nonobese and normotensive. In the present study, 522 family members were sedentary at baseline examination, and resting SBP, DBP, and HR measured during this examination were investigated. If physical activity level is a potent environmental factor, then we expected that the relative contribution of environmental factors to the familial aggregation of blood pressure (BP) would be somewhat reduced, because activity was controlled for in this study. Using a familial correlation model, maximal heritabilities were estimated to be 54%, 41%, and 32% for resting SBP, DBP, and HR, respectively, in these families; and they were 51%, 42%, and 34% for resting SBP, DBP, and HR, respectively, when the data were adjusted for body mass index. The estimates are somewhat higher for BP but similar for HR to those reported in previous family studies, suggesting that the distribution of the underlying etiologic factors in these sedentary families may be similar to those in the general population. There was substantial spouse resemblance in this study, which may be explained by a higher concordance for correlated lifestyle factors including diet, similar activity levels, or by assortative mating for relative weight or dietary preferences.

Adolescent

Linkages and associations between the leptin receptor (LEPR) gene and human body composition in the Québec Family Study.

OBJECTIVE: To investigate linkage and association between the leptin receptor (LEPR) gene and body composition variables in the Quebec Family Study (QFS). DESIGN: Single-point linkage analysis using families, and covariance and chi-square analyses using normal weight and obese unrelated subjects from QFS. SUBJECTS: 169 nuclear families were used for linkage study. 308 unrelated subjects (146 males; 162 females) from these families were used for chi-square testing of genotype and allele distributions between subjects with body mass index (BMI) < 27 kg/m2 (n = 167) and those with BMI > or = 27 kg/m2 (n = 141), and for a series of covariance analyses using age, plus height for fat mass (FM) and fat free mass (FFM), as covariates. A corrected P value (P*) for multiple tests has been calculated according to P* = 1-(1-P)(number of phenotypes). MEASUREMENTS: Variables were BMI (in kg/m2), sum of six skinfolds (SF6 in mm), FM (in kg), percent body fat (%FAT) and FFM (in kg). Polymerase chain react restricted fragment length polymorphisms PCR-RFLP) was used to identified a K109R substitution in exon 4, a Q223R in exon 6, a K656N in exon 14 and an automatic DNA sequencer for a CA microsatellite repeat in intron 3, and heteroduplex pattern on non-denaturing gel for a CTTT repeat in intron 16. RESULTS: Good evidence of linkage was observed for Q223R with FM (P = 0.005; P* = 0.02), and for the CTTT repeat with FFM (P = 0.007; P* = 0.03). Weaker linkages (0.02 < or = P < or = 0.05) were also observed between Q223R and BMI, SF6 and FFM, between the CA repeat and BMI, SF6 and FM, and between the CTTT repeat and FM. Moreover, FFM values were found to be different among genotypes for the CTTT repeat polymorphism with heavier females, carriers of the 123* allele at the CTTT repeat, showing 4 kg less of FFM (43.6 +/- 1.0, n = 21 vs 47.7 +/- 0.8, n = 30; P = 0.005; P* = 0.02) than non-carriers. Also, at the Q223R polymorphism, in lower BMI males, carriers of the Q223 allele were 4 kg lighter in FFM (53.4 +/- 0.6, n = 47 vs 56.6 +/- 0.9, n = 18; P = 0.005; P* = 0.02) than non-carriers. No significant differences were observed between lower and higher BMI subjects in genotype and allele frequency distributions for any of the polymorphisms. CONCLUSIONS: These results indicate that the LEPR gene is involved in the regulation of the body composition in human particularly of FFM in the QFS.

Adipose Tissue

Gender difference in the effect of body composition on energy metabolism.

OBJECTIVE: The aim of this study was to investigate the relationship between energy expenditure (EE) and fat mass (FM) by using a cross-sectional approach to study the linear relationship between body composition variables and EE phenotypes as well as an intervention design to investigate the effect of body weight loss on energy metabolism in both genders. METHODS: The correlations and linear relationships between body weight, FM, fat-free mass (FFM) and abdominal fat vs 24 h EE (EE 24) and sleeping metabolic rate (SMR) were compared between 65 men and 35 women, and before and after weight loss in 10 men and 10 women. RESULTS: Our results showed that for a given FM, men displayed a higher EE than women, independently of FFM. Furthermore, regression analysis revealed that after body weight loss, men displayed a lower SMR for a given FM or FM adjusted for FFM compared to before the treatment, but this was not so in women. However, when FM was adjusted for abdominal fat deposition, the difference between the conditions was no longer observed. CONCLUSIONS: FM has a significant impact on EE only in men. We suggest that abdominal adipose tissue may exert a potent regulatory effect on energy metabolism which would be more detectable in men who generally store more fat in this compartment than women.

Abdomen

Physique, subcutaneous fat, adipose tissue distribution, and risk factors in the Québec Family Study.

OBJECTIVE: To investigate the relationships among subcutaneous fatness, subcutaneous adipose tissue (SAT) distribution, somatotype and risk factors for coronary heart disease (CHD). SUBJECTS: The sample included 1410 (715 male and 695 female) youths and adults from the Quebec Family Study. MEASUREMENTS: Six skinfolds and the dimensions necessary for the derivation of the Heath-Carter anthropometric somatotype (endomorphy, mesomorphy, ectomorphy) were measured. The six skinfolds were summed to provide an index of subcutaneous adiposity (SUM). In addition, the trunk-to-extremity skinfold ratio, adjusted for SUM using regression procedures (TER), and the first principal component (PC1) of skinfold residuals (also adjusted for SUM) were used to indicate SAT distribution, independent of the overall level of fatness. Risk factors for CHD included systolic and diastolic blood pressures, and fasting glycaemia, triglycerides (TGs), plasma cholesterol, high and low density lipoprotein (HDL-C and LDL-C) cholesterol, and the HDL-C/total cholesterol (CHOL) ratio. RESULTS: In general, SUM was positively correlated with endomorphy and mesomorphy, and negatively correlated with ectomorphy. On the other hand, SAT distribution was not associated with somatotype, except in females where TER and PC1 were negatively correlated with mesomorphy. Results of forward stepwise regression analyses to predict CHD risk factors, indicated that a significant proportion of the variance in the risk factors could be accounted for by SUM, SAT distribution and somatotype (up to 16%). SUM is the best predictor, entering the regressions first (most important) in six of 15 significant regressions in males and 14 of 16 significant regressions in females. Somatotype components enter as predictors 10 times in males, and six times in females. Similarly, TER and PC1 enter as predictors nine times in males and five times in females. CONCLUSIONS: Somatotype is related to SUM, while somatotype and SAT distribution are largely independent of one another. Furthermore, SUM, somatotype and SAT distribution are significant predictors of biological risk factors for CHD.

Adipose Tissue

A mitochondrial DNA D-loop polymorphism and obesity in three cohorts of women.

OBJECTIVE: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction site polymorphism (RSP) at base pair (bp) 16,133 (morph-1) and obesity in women. DESIGN: Comparisons of carriers and noncarriers of the mutation for BMI (Body Mass Index) levels and of the frequency of the mutation in obese and normal weight women. SUBJECTS: 567 unrelated adult Caucasian non-diabetic women from the HERITAGE Family Study (n = 63; BMI: 15-47 kg/m2), Quebec Family Study (QFS; 77 controls, BMI: 19-26 kg/m2 and 38 obese, BMI: 27-56 kg/m2) and Swedish Obese Subjects (SOS) Study (81 controls, BMI: 18-26 kg/m2 and 308 obese, BMI: 33-58 kg/m2). MEASUREMENTS: BMI was calculated from weight and height (kg/m2). mtDNA was amplified between base pair 15,928 and 16,500 by polymerase chain reaction (PCR) and digested with the restriction endonuclease Kpn I. RESULTS: No significant differences in the age-adjusted BMI for the mtDNA D-loop Kpn I RSP at base pair (bp) 16,133 (morph-1) between carriers and non-carriers in the HERITAGE cohort. No significant association was found between BMI and the Kpn I RSP carrier status in the SOS and QFS cohorts. The observed frequencies for the Kpn I RSP were not significantly (P > 0.05) different between the SOS controls and SOS obese irrespective of the degree of severity of obesity (BMI > 40, > 45 or > 50 kg/m2). CONCLUSION: We conclude that the mtDNA D-loop Kpn I RSP at bp 16,133 (morph-1) is not a determinant of human obesity.

Adult