Adiponectin receptor 1 gene (ADIPOR1) variant is associated with advanced age-related macular degeneration in Finnish population.

Adiponectin is an adipocyte-expressed protein that regulates the glucose, lipid, and energy metabolism via adiponectin receptors 1 and 2. Obesity is a known risk factor for age-related macular degeneration (AMD). We, therefore, examined associations of single nucleotide polymorphisms in Adiponectin (ADIPOQ) and Adiponectin receptors 1 and 2 (ADIPOR1 and ADIPOR2) genes with the prevalence of advanced AMD in Finnish population. Thirty-seven markers for ADIPOQ, ADIPOR1 and ADIPOR2 were genotyped in a sample collection of 91 men and 177 women having exudative AMD and 18 men and 26 women having severe atrophic AMD. Patients were diagnosed by fundus photographs and fluorescein angiography. The control group (no signs of AMD in fundus photographs) consisted of 55 men and 111 women. Inclusion criteria age was over 65 years old without diabetes diagnosis. Out of the tested SNPs, rs10753929 located in intron of ADIPOR1 gene was significantly associated (p=0.0471) with AMD status when using a permutation procedure that controlled for the number of tested genotypes and genetic models. Odds ratio (OR) for the association was 1.699 (95% CI 1.192-2.423). The SNP consists of C/T alleles and the risk allele T had a minor allele frequency (MAF) of 20.4%. Distribution of proportion of cases/controls between alleles revealed an additive genetic model. Our findings reveal that rs10753929 ADIPOR1 variant is a novel candidate for AMD genetic risk factor in Finnish population.

Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration.

PURPOSE: Tenomodulin (TNMD) is located in the X-chromosome encoding a putative angiogenesis inhibitor which is expressed in retina. Associations of single nucleotide polymorphisms of TNMD with the prevalence of age-related macular degeneration (AMD) were examined. METHODS: Six markers covering 75% of the common sequence variation in the coding region of TNMD and 10 kb up- and downstream were genotyped in a sample consisting of 89 men and 175 women with exudative AMD, 18 men and 25 women with atrophic AMD, and 55 men and 113 women without AMD. All participants were over 65 years old and did not have diabetes mellitus. Due to the chromosomal locus, the association of genotypes with AMD was assessed genderwise. RESULTS: Three markers, rs1155974, rs2073163, and rs7890586, were associated with a risk of AMD in women. In comparison to women with other genotypes, the women who were homozygous for the minor allele (genotypes rs1155974-TT or rs2073163-CC) had 2.6 fold (p=0.021) or 1.9 fold (p=0.067) risk for having AMD, respectively. These differences were due to the unequal prevalence of exudative AMD. In comparison to women who were homozygous for the major alleles, the women with rs1155974-TT genotype had a 2.8 fold risk (p=0.021 in additive model; p=0.022 in recessive model) for exudative AMD, and the women with rs2073163-CC genotype had a 1.8 fold risk (p=0.09 in additive model; p=0.038 in recessive model). Furthermore, women carrying the rare rs7890586-AA genotype had a significantly smaller risk for having AMD than women with the other genotypes (odds ratio 0.083; p=0.001 in recessive model), but due to the low frequency of this genotype, this finding must be interpreted cautiously. The false discovery rate was <10% for all of the aforementioned results. CONCLUSIONS: On the basis of the putative antiangiogenic role of TNMD and the present genetic associations of TNMD with AMD in women, we suggest that TNMD could be a novel candidate gene for AMD. These results should be confirmed in further studies.

Risk factors for cervical and trochanteric hip fracture during a fall on the hip.

OBJECTIVE: The aim of this study was to elucidate factors related to hip fracture in patients who fall on the hip in order to identify those patients who might benefit from the use of hip protectors. DESIGN: The study was performed by comparing 146 persons who had fallen and sustained a soft tissue injury in the hip region with 146 cervical hip fracture and 146 trochanteric hip fracture patients matched for age, sex and place of residence. PATIENTS: The fall group was drawn from a prospectively collected cohort of 1,061 elderly people participating in an epidemiological survey on fall injuries; the fracture group was drawn from a prospectively recorded hip fracture database of the Oulu University Hospital (n = 1,714). OUTCOME MEASURES: Demographic data, place and mechanism of falling, walking ability, associated diseases, medication. RESULTS: In a stepwise polychotomous conditional logistic regression analysis, the following significant and independent risk factors for both fracture types were seen: low weight, tall height, falling from standing height and respiratory disease. Falling indoors was a risk for only trochanteric fractures, while inability to walk alone outdoors was a risk for only cervical hip fractures. CONCLUSIONS: Elderly persons with low weight, tall height, respiratory disease, tendency to fall indoors and inability to walk alone outdoors should be candidates for the use of hip protectors.