A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

Smoking is a leading cause of preventable death, causing about 5 million premature deaths worldwide each year. Evidence for genetic influence on smoking behaviour and nicotine dependence (ND) has prompted a search for susceptibility genes. Furthermore, assessing the impact of sequence variants on smoking-related diseases is important to public health. Smoking is the major risk factor for lung cancer (LC) and is one of the main risk factors for peripheral arterial disease (PAD). Here we identify a common variant in the nicotinic acetylcholine receptor gene cluster on chromosome 15q24 with an effect on smoking quantity, ND and the risk of two smoking-related diseases in populations of European descent. The variant has an effect on the number of cigarettes smoked per day in our sample of smokers. The same variant was associated with ND in a previous genome-wide association study that used low-quantity smokers as controls, and with a similar approach we observe a highly significant association with ND. A comparison of cases of LC and PAD with population controls each showed that the variant confers risk of LC and PAD. The findings provide a case study of a gene-environment interaction, highlighting the role of nicotine addiction in the pathology of other serious diseases.

[A study of risk factors for cardiovascular disease among schizophrenic patients using the rehabilitation mental health services at Kleppur]. / Rannsókn á áhættutháttum hjarta- og ædasjúkdóma hjá gedklofasjúklingum á gedsvidi Landspítala.

BACKGROUND: Studies have shown that schizophrenic patients die on average 15-20 years earlier than the normal population, and that increased prevalance of cardiovascular risk factors plays a crucial role Schizophrenic patients are underdiagnosed and undertreated when it comes to diabetes, hypertension and dyslipidemia. The aim of this study was to investigate the prevalence of metabolic syndrome, obesity, hypertension, diabetes and dyslipidemia among schizophrenic patients in Iceland. METHODS: An observational study of 106 schizophrenic patients in Iceland during the period 2007-2009. The results were compared to age adjusted population based data. RESULTS: 106 patients participated, 86 men and 20 women. In all 57% were diagnosed with metabolic syndrome (p<0.0001) in comparison to 14.1% in the general population. In all 73% were smokers (21% in the general population) p<0.0001 and 23.6% had hypertension of which only 20% were treated with anti-hypertensive medication. The average systolic blood pressure was 134.8 mmHg <0.001. In all 15.1% had a fasting glucose over 7 mmol/l but only 38% were previously diagnosed with diabetes. The average BMI was 29.7 kg/m² p=0.0007, 45.3% were obese (BMI >30 kg/m²). Only 32.1% had normal BMI, and 82.1% had waist circumference over the normal limits. CONCLUSION: The physical condition of Icelandic schizophrenic patients is poor and their risk for cardiovascular diseases is high. It is necessary to follow their weight, blood pressure, blood glucose and lipids more closely It is imperative to educate and enable the schizophrenic patient to live a healthier life.

Anxiety with panic disorder linked to chromosome 9q in Iceland.

The results of a genomewide scan for genes conferring susceptibility to anxiety disorders in the Icelandic population are described. The aim of the study was to locate genes that predispose to anxiety by utilizing the extensive genealogical records and the relative homogeneity of the Icelandic population. Participants were recruited in two stages: (1) Initial case-identification by a population screening for anxiety disorders, using the Stamm Screening Questionnaire, was followed by aggregation into extended families, with the help of our genealogy database; and (2) those who fulfilled the diagnostic and family aggregation criteria underwent a more detailed diagnostic workup based on the Composite International Diagnostic Interview. Screening for anxiety in close relatives also identified additional affected members within the families. After genotyping was performed with 976 microsatellite markers, affected-only linkage analysis was done, and allele-sharing LOD scores were calculated using the program Allegro. Linkage analysis of 25 extended families, in each of which at least one affected individual had panic disorder (PD), resulted in a LOD score of 4.18 at D9S271, on chromosome 9q31. The intermarker distance was 4.4 cM on average, whereas it was 1.5 cM in the linked region as additional markers were added to increase the information content. The linkage results may be relevant not only to PD but also to anxiety in general, since our linkage study included patients with other forms of anxiety.