A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and hard smokers (HS) with no permanent clinical symptoms of chronic bronchitis (n = 172). The GSTM1 0/0 genotype was found in 71.3% and 65.7% of cases in SCB and MCB, respectively, compared with only 47.1% in the control HS group (P = 0.0002). This latter figure (47.1%) is consistent with the average GSTM1 deletion frequency in French Caucasians. Moreover, the results showed a significant difference in the distribution of the GSTM1 0/0 genotype for both the SCB and MCB groups against the control HS group, according to gender (SCB: P = 0.001; MCB: P = 0.005), age (SCB: P = 0.0001; MCB: P = 0.005) and smoking history (SCB: P = 0.0001; MCB: P = 0.005). Thus, individuals homozygous for the GSTM1 gene deletion, especially in the under-41 age group (SCB: P = 0.001; MSB: P = 0.04) with an average smoking history of 16-30 pack-years (SCB: P = 0.002; MSB: P = 0.01) are more prone to chronic lung diseases, such as SCB and MCB, than are GSTM1 +/+ or 0/+ subjects. Population screening of young people for the identification of GSTM1 0/0 subjects, with special emphasis on smoking habits, might be useful (1) for the early detection of individuals at high risk of lung complications caused by environmental toxins and pollutants and (2) in clinical practice, in order to prevent the development of chronic bronchitis, which is a common disease.
A homozygous gene deletion at the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by PCR in the group of Slavic populations from the north-western and central-eastern regions of European Russia and in patients with lung cancer (LC), other tumors (OT), endometriosis (E), alcoholic cirrhosis (AC), cystic fibrosis (CF) and chronic bronchitis (CB). The frequencies of the GSTM1 0/0 genotype were 38.8% and 67.5% for both population groups, respectively. The proportion of the GSTM1 gene deletion genotype was estimated as significantly increased in LC (81%), OT (65%), E (81%), AC (77.3%), and in CB (73.6%) patients with symptoms of CB confirmed by X-ray but not in CB patients without X-ray evidence of disease (40.9%). A definite preponderance of GSTM1-0 homozygotes (51.1%) has been registered in CF patients of the pancreatic sufficient group with clear-cut pulmonological manifestations but not in those of the pancreatic insufficient group with predominantly intestinal or mixed clinical symptoms (41.2% and 37.5%, respectively). Earlier clinical manifestations and death before the age of 5 years are typical for GSTM1-deleted CF patients. These data support the notion that GSTM1 deletion should be considered as a convenient genetic marker for the early detection of groups at higher risk of many diseases caused by environmental and genetic factors, where manifestation depends on the lack of detoxification. High levels of GSTM1 0/0 genotypes in E patients favor the substantial contribution of certain environmental toxins in the pathogenesis of this widespread disease.
Our results indicate that patients with Parkinson's disease do not have specific profiles for tobacco or alcohol addiction and pathological gambling compared with the general population.
ObjectivesEvidence has been accumulating for association between PD and addiction in case report, retrospective and epidemiological study but generally focused on only one substance/behaviour and without taking any comparison group. The central question is PD patients are they prone to addictive behaviours more than general population do?MethodsA cross-sectional, self questionnaire-based study was undertaken. The self-report (AUDIT, Fagerström, TDAS, SOGS…) explored addictions with substance (alcohol, tobacco…) or without (gambling, sex) in PD patients and healthy controls, mood disorders were also evaluated.ResultsAfter screening full filed questionnaire and appropriate age- and sex-matched controls, we obtained 115 patients and controls. Dopamine dysregulation syndrome (DDS) is described in the total PD patients population (n=139).We found a higher prevalence of smokers and positive for harmful drinking or alcohol dependence in the control group than in PD patients (2.6% smokers, 6.4% for alcohol). There is more over no significant differences between the two groups concerning gamblers prevalence. Pathologic hypersexuality prevalence is 1.8% in PD group (no case in controls) and 11.5% for DDS. Anxiety disorders in PD patients with DDS are more frequent than in PD patients without and 3 patients develop another addiction besides DDS.ConclusionsCompared with general population and against all expectations HS and PG prevalence seems not to differ. However, the DDS seems to be a frequent syndrome which draws our attention to better screen this problem, especially taking into account the fact that anxiety appears to be closely link to it.
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