ABSTRACT
Polymorphisms in a number of genes have consistently been associated with type 2 diabetes in various Caucasian populations. Little, however, is known of the association between these genetic risk markers and type 2 diabetes in sub-Saharan African subjects. The aim of the current study was to determine the association between common variants in the PPARG, KCNJ11, TCF7L2, FTO and HHEX genes in African (black) subjects of Zulu descent in KwaZulu-Natal, South Africa. The association between type 2 diabetes and rs1801282 (PPARG), rs5215 (KCNJ11), rs12255372 (TCF7L2), rs7903146 (TCF7L2) rs9939609 (FTO) and rs1111875 (HHEX) was determined in 178 South African Zulu subjects and 200 healthy ethnically matched control subjects. rs1801282 (PPARG) and rs5215 (KCNJ11) were not found to be present in either the subjects with type 2 diabetes or the control subjects. No association between rs12255372 (TCF7L2), rs9939609 (FTO) and type 2 diabetes was found. Heterozygosity at rs7903146 (TCF7L2) was associated with type 2 diabetes (odds ratio 1.84, 95% confidence interval: 1.192.83, p=0.0035). Decreased frequency of homozygosity for the common allele at rs7903146 (TCF7L2) was observed in subjects with type 2 diabetes (odds ratio 0.54, 95% confidence interval: 0.340.84; p=0.0043). There was an increased frequency of C allele homozygosity in subjects with type 2 diabetes at rs1111875 (HHEX), of borderline significance (odds ratio 1.54, 95% confidence interval 0.972.44, p=0.052). Subjects with type 2 diabetes harbouring one or more of the risk alleles did not differ from those without genetic variation at the loci studied, with respect to age at diagnosis, blood pressure, body mass index or serum lipid levels. We conclude that risk polymorphisms identified in Caucasian populations are not associated with type 2 diabetes in this group of South African subjects of Zulu descent, with the exception of rs7903146 (TCF7L2). The genetic risk for type 2 diabetes in sub-Saharan African subjects may reside in other, as yet unidentified, genes
Subject(s)
Black People , Polymorphism, GeneticABSTRACT
Background: Disability grants in South Africa increased from 600;000 in 2000 to almost 1.3 million in 2004. This rise can be attributed to the AIDS epidemic; South Africa's high rate of unemployment and possibly an increased awareness of constitutional rights. The Western Cape; which has a disability prevalence of 3.8; has also experienced an influx of applications. The study was conducted at Bishop Lavis Community Health Centre in the Cape Town Metropole; Western Cape. The primary aim of this study was to establish the profile of adults applying for disability grants at Bishop Lavis. The secondary aim was the determination of the degree of activity limitation and participation restriction by means of the ICF (International Classification of Functioning; Disability and Health) shortlist of activity and participation domains. Methods: A descriptive study was conducted with emphasis on identifying and quantifying the relevant factors. The population studied included all prospective adult (18-59 year old females and 18-64 year old males) disability grant applicants in Bishop Lavis over a two month period (April - May 2007). A structured; self-compiled questionnaire was administered during face-to-face interviews with applicants. The questionnaire included the demographic details of the applicants; disability/chronic illness/condition; educational level; social/living conditions. The second part of the questionnaire was based on the ICF shortlist of activity and participation. Results: There were 69 respondents over the period of data collection. Of the 69 applicants that participated in the study; 45 (65) received a temporary disability grant; 6 (8) a permanent grant and 18 (26) applications were rejected. The results demonstrate that most applicants are females over the age of 50; poorly educated with chronic medical conditions; living in formal accommodation with good basic services but with minimal or no disposable income. The ICF questionnaire responses showed that majority of respondents had no difficulty in most domains; except for the general tasks and demands (multiple tasks); mobility (lifting and carrying; fine hand use; walking) and domestic tasks domains which showed high percentages for severe to complete difficulty. However; further statistical analysis showed no association between degree of difficulty in the above domains and eventual outcome of type of grant received. Conclusions: This study confirms that unemployment and a lack of income are the factors influencing patients to seek assistance in the form of disability grants. Most applicants have a chronic medical condition and reported functional restrictions but only received a temporary grant. This may be an indication that most patients require further evaluation before a final decision can be made. There is a need for a standardised; objective assessment tool for disability grant applications. A campaign to educate patients about disability grants could save patients and hospital medical services time and money