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PubMed2004

Effects of the Quebec Heart Health Demonstration Project on adult dietary behaviours.

BACKGROUND: There are few studies which have evaluated the dietary impact of multiple community-based cardiovascular disease prevention programs. METHODS: A 5-year, multifactorial community-based heart disease prevention program was conducted by regional public health departments in three sites: urban, suburban and rural. The experimental and control communities were composed of independent samples of 4,863 adults in 1993 and 5,260 in 1997. The impact of the program on diet was assessed by a validated, self-administered food frequency questionnaire which yielded a Global Dietary Index (GDI). RESULTS: The urban and suburban sites showed improvements in mean GDI in both exposed and non-exposed groups while the rural site mean GDI showed deterioration in both groups (n.s.). The analysis of variance showed that the group x year interaction terms were not significant for each site and sex, indicating that the intervention did not have measurable effects on dietary behaviours. Inclusion of confounding variables did not alter those findings. Analyses of specific food group indices gave similar results. CONCLUSIONS: Future intervention programs could benefit from considering physical and social environments as well as public policy changes to improve efficacy.

Adult↗
PubMed1999

Genome-wide search for linkage of bipolar affective disorders in a very large pedigree derived from a homogeneous population in quebec points to a locus of major effect on chromosome 12q23-q24.

We completed a genome-wide scan for susceptibility loci for bipolar affective disorders in families derived from a rather homogeneous population in the Province of Québec. The genetic homogeneity of this population stems from the migration of founding families into this relatively isolated area of Québec in the 1830s. A possible founder effect, combined with a prevalence of very large families, makes this population ideal for linkage studies. Genealogies for probands can be readily constructed from a population database of acts of baptism and marriage from the early 1830s up to the present time (the BALSAC register). We chose probands with a DSM III diagnosis of bipolar affective disorder and who may be grouped within large families having genealogical origins with the founding population of the Saguenay-Lac-St-Jean area. Living members (n approximately 120) of a very large pedigree were interviewed using the Structured Clinical Interview for DSM III (SCID I), SCID II, and with a family history questionnaire. A diagnostic panel evaluated multisource information (interview, medical records, family history) and pronounced best-estimate consensus diagnoses on all family members. Linkage, SimAPM, SimIBD, and sib-pair analyses have been performed with 332 microsatellite probes covering the entire genome at an average spacing of 11 cM. GENEHUNTER and haplotype analyses were performed on regions of interest. Analysis of a second large pedigree in the same regions of interest permitted confirmation of presumed linkages found in the region of chromosome 12q23-q24.

Bipolar Disorder↗
PubMed1997

Nutritional factors and colon carcinoma: a case-control study involving French Canadians in Montréal, Quebec, Canada.

BACKGROUND: In a population-based case-control study of colon carcinoma and nutrition involving the francophone community in Greater Montreal, a total of 402 cases (200 males and 202 females) and 668 controls (239 males and 429 females) were interviewed. METHODS: Cases from 1989-1993 were identified through the admission offices of 5 major francophone teaching hospitals in Montreal and were ages 35-79 years. Controls matched by age, place of residence, and language were selected by a modified random digit dialing method. Information on dietary intake was collected with a quantitative food frequency questionnaire. RESULTS: No associations were evident between colon carcinoma and total energy, protein, or carbohydrate consumption, whereas a suggestive inverse association was found with total fat intake, with an odds ratio (OR) of 0.78 (P = 0.0637), and with saturated fat intake as well (OR = 0.71, P = 0.0893). A strongly significant inverse association was found with dietary fiber (OR = 0.50, P = 0.0018). The strongest inverse association concerning fiber was found with fiber from vegetable sources (OR = 0.57, P = 0.0096), and a suggestive (although nonsignificant) inverse association (OR = 0.74, P = 0.0687) was found with fiber from fruits. Calcium was inversely associated with risk (OR = 0.69, P = 0.0411), as was dietary intake of vitamin A (OR = 0.67, P = 0.0162), retinol, (OR = 0.069, P = 0.0409), vitamin E (OR = 0.53, P = 0.0028), and alphatocopherol (OR = 0.63, P = 0.0256). Although there was no association demonstrated between dietary beta-carotene intake and risk, a suggestive (although nonsignificant) inverse association with intake of other types of carotene was observed (OR = 0.76, P = 0.0740). No association was found between intake of other nutrients investigated in this study and risk of colon carcinoma. CONCLUSIONS: There is strong evidence from epidemiologic studies that high intake of fat and meat are risk factors for colorectal carcinoma in humans, whereas high intake of vegetable and fruit are inversely associated with risk of colon carcinoma. The findings from this study are in agreement with this observation.

Adult↗
PubMed1999

A genealogical study of Alzheimer disease in the Saguenay region of Quebec.

We performed an analysis of inbreeding and kinship among the ascending genealogies of 205 autopsy-confirmed Alzheimer disease (AD) subjects recruited in the Saguenay area of Québec. We hypothesized that if some traits pertaining to the disease were determined by inherited factors, and if the corresponding genes were not too frequent in the population, it might be possible to detect some clusters of patients related to common ancestors and presenting a level of kinship and/or inbreeding higher than is observed in the unaffected population of the same age. In view of the heterogeneity of the disease, we also verified if some of the factors investigated could be associated more specifically with subsets of cases based on age of onset and on apolipoprotein E (APOE) genotype. Results were compared with those obtained on 205 controls matched for gender, place and year of birth. We found that late-onset AD cases with an APOE-epsilon 4 were significantly more inbred than controls and that this increase was explained by the high level of inbreeding of a few cases whose parents were related at the first-cousin level. This could possibly indicate the implication of a recessive element in a small subset of AD cases in the Saguenay population. We also found that late-onset epsilon 4+ cases were significantly more closely related among themselves than with controls. This increase in kinship may be attributable to the presence of the epsilon 4 allele or to some other unidentified genetic factor possibly acting in conjunction with APOE-epsilon 4.

Age of Onset↗
PubMed2001

Human papillomavirus (HPV) study of 691 pathological specimens from Quebec by PCR-direct sequencing approach.

Human papillomaviruses (HPV) are etiological agents of cervical cancer. In order to address clinical demand for HPV detection and sequence typing, mostly in pre-cancerous cervical lesions, we applied our two-tier PCR-direct sequencing (PCR-DS) approach based on the use of both MY09/MY11 and GP5 + /GP6 + sets of primers. We tested 691 pathological specimens, all of which were biopsies, 75% of which were diagnosed histologically as cervical intraepithelial neoplasia (CIN) grades I-III. In total, 484 samples (70%) tested HPV-positive, yielding 531 HPV sequences from 47 HPV types, including two novel types. Four most frequently found HPV types accounted for 52.9% of all isolates: HPV6, 16, 11, and 31 (21.5%, 20.0%, 7.0%, and 4.5%, respectively). Some interesting results are the following: all currently known high-risk HPV (14 types) and low-risk HPV (6 types) were detected; HPV18 was not the 1st or 2nd but rather the 4th-5th most frequent high-risk HPV type; the highest detection rate for HPV (86%) among samples suspected to be HPV-infected was found in the youngest age group (0-10 years old), including 70% (44/63) "genital" HPV types; HPV types of undetermined cervical cancer risk represented 19% and of the total HPV isolates but were strongly increased in co-infections (36.5% of all isolates). To our knowledge, this is the largest sequencing-based study of HPV. The HPV types of unknown cancer risk, representing the majority of the known HPV types, 27 of the 47 types detected in this study, are not likely to play a major role in cervical cancer because their prevalence in CIN-I, II, and III declines from 16% to 8% to 2.5%. The two-tier PCR-DS method provides greater sensitivity than cycle sequencing using only one pair of primers. It could be used in a simple laboratory setting for quick and reliable typing of known and novel HPV from clinical specimens with fine sequence precision. It could also be applied to anti-cancer vaccine development.

Adolescent↗
PubMed1994

Retrospective cohort study of workers of a synthetic textiles plant in Quebec: II. Colorectal cancer mortality and incidence.

This paper describes standard mortality and nested case-control analyses of colorectal cancer for a cohort of synthetic textiles workers in which a cluster of five cases was observed previously. The cohort consisted of 7,487 men and 2,724 women who had more than 1 year's experience at the plant and who were either working in 1947 or were newly employed between 1947 and 1977. The Standardized Mortality Ratio (SMR) for colorectal cancer for men was 0.69 (95% confidence interval (CI): 0.52-0.92; 50 deaths) and for women it was 1.02 (95% CI: 0.57-1.69; 15 deaths). Among men only there was a suggestion that risks increased according to the length of service at the plant. In the nested case-control study, incident cases as well as deceased cases were included. A variety of analyses were carried out according to duration of employment in the processing units. For men the risk of colon cancer increased with duration of employment in the polypropylene and cellulose triacetate extrusion unit (unadjusted odds ratio (OR) for > or = 5 years duration = 5.52; 95% CI: 1.12-27.26; 4 exposed cases). It was not possible, however, to provide an independent confirmation of this putative association because the case series included three of the original five cases. There was some evidence of increased risks in the cellulose acetate fiber manufacturing unit and in the dyeing and finishing unit, but the data were compatible with the null hypothesis of no effect. No associations were observed for employment in any of the other processing units.

Adult↗
PubMed2005

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

Jamain [2003: Nat Genet 34:27-29] recently reported mutations in two neuroligin genes in sib-pairs affected with autism. In order to confirm these causative mutations in our autistic population and to determine their frequency we screened 96 individuals affected with autism. We found no mutations in these X-linked genes. These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism.

Adolescent↗
PubMed2005

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased alpha-fetoprotein levels. In this study, we evaluated 24 ataxic patients from 10 French-Canadian families. All cases have a homogeneous phenotype consisting of a progressive ataxia appearing between 2 and 20 (mean age, 14.8) years of age with associated dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased alpha-fetoprotein levels but absence of oculomotor apraxia. Linkage disequilibrium was observed with markers in the ataxia-oculomotor apraxia 2 locus on chromosome 9q34. We have identified four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T-->G mutation changes the leucine encoded by codon 1976 to an arginine in the helicase domain (L1976R), and the 193G-->A mutation changes a glutamic acid encoded by codon 65 into a lysine in the N-terminal domain of the protein (E65K). The common L1976R mutation is shared by 17 of 20 (85%) carrier chromosomes. The study of this large French-Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French-Canadian population.

Adult↗
PubMed1993

Financial incentives for physicians: the Quebec experience.

This paper presents an empirical investigation of physician labour supply, based on a two-stage budgeting model, drawing on an analogy with consumer theory. Physicians' trade-offs between income and leisure constitute the first stage of the decision-making process. In turn, choices are made in the second stage concerning the choice of particular activities (hospital versus office care, for example) or procedures (ordinary versus complete medical examinations), given the total medical care activity chosen in the first stage. The objective of the study is to identify physicians' responses to exogenous shocks in the remuneration system. The focus of analysis is shifted away from the identification of Supply-Induced Demand (SID) to a more pragmatic analysis of some of the determinants of physicians' choices. The study uses monthly activity data on a panel of 677 Québec GPs between 1977 and 1983. Quantity adjustments and drifts to more complex (and therefore better paid) procedures are evidenced, mainly in response to a fifteen month tariff-freeze. Physicians' ability to control their own work loads is also documented, both in terms of timing and level of complexity, and expenditure caps (in the form of an individual ceiling on GPs' quarterly gross income) are found to be effective at curbing high activity rates.

Budgets↗
PubMed1997

Suggestive linkages between markers on human 1p32-p22 and body fat and insulin levels in the Quebec Family Study.

A single-gene rodent mutation (diabetes) and a quantitative trait locus (dietary obese 1) mapped to the mid portion of mouse chromosome 4 have been related to obesity and/or insulin levels. Synteny relationships place their putative human homologs on 1p31 and 1p35-p31, respectively. In 137 sibships of adult brothers and sisters from the Québec Family Study, genetic linkages between seven microsatellite markers from 1p32-p22 and various obesity- and diabetes-related quantitative phenotypes were examined using single locus sibpair linkage analysis. Suggestive linkages were observed between markers D1S476 and body mass index (p = 0.05), fat mass (p = 0.02), the sum of six skinfolds (p = 0.02), the insulin area after an oral glucose tolerance test (p = 0.02), and between the neighboring marker D1S200 and body mass index (p = 0.03), and fat mass (p = 0.009). Suggestive linkages were also observed between the more telomeric markers D1S193 and body mass index (p = 0.03), and between the neighboring marker D1S197 and fasting insulin level (p = 0.05). No linkage was observed with the trunk to extremity skinfolds ratio. These linkages suggest that human homologs of the mouse diabetes or dietary obese 1 and/or other genes in this interval on chromosome 1 play a role in the regulation of body mass, body composition, and insulin levels, but not of subcutaneous fat distribution.

Adolescent↗
PubMed1991

Family aggregation of cancer of the prostate in Quebec: the tip of the iceberg.

Cancer of the prostate is one of the most common cancers among males in North America. Although some causative factors have been suggested by several surveys, the etiology of this common cancer is poorly understood. In a case-control study of prostatic cancer in Greater Montreal, 21 of 140 patients with prostatic cancer (15.0%) gave a positive family history of the same cancer, as compared with two cases among 101 (2.0%) population-based controls. This indicates about an eightfold difference in occurrence of cancer of the prostate among first-degree family members of the case group with an odds ratio (OR) of 8.7 and 95% CI, 2.00-38.17. In this report we present the pedigrees of three families (two cases and one control) with four pathologically confirmed cases of cancer of the prostate in each family. This data suggest that a familial predisposition to prostatic cancer may become apparent in later decades of life. In these family aggregations, in addition to the genetic factors, environmental factors may also play an important role in the etiology of the same cancer among family members.

Aged↗