Purpose: To ascertain the prevalence of age-related macular degeneration (AMD) in a Sardinian genetic isolate (Ogliastra). Methods: Volunteers aged ≥50 years, were randomly selected from SardiNIA project cohort. Detailed questionnaires were administered to volunteers in order to obtain demographic information and lifestyle choices including smoke and physical activity. A color fundus (CF) photograph of the 30° central retina of each eye was obtained by all participants and then graded according to the Age-Related Eye Disease Study (AREDS) system. A blood sample was collected from each study subject to assess the genetic features of the AMD predisposing candidate genes and to estimate the concentration of inflammation biochemical parameters AMD related. Results:1628 CF images of 814 subjects (380 males and 434 females; mean age: 66.55±11.77 years) were randomly included in the study. 116 eyes of 58 subjects were excluded from the analysis, having ungradable CF photographs bilaterally. The remaining 756 subjects, with CF photographs gradable for AMD, were 346 males and 410 females (mean age: 65.05±11.75 years). In 690/756 (91.27%) cases no signs of AMD were detected whereas the prevalence rates of early and late AMD were 6.88% and 0.662%, respectively.643/756 (85.05%) subjects were physically active and only 102/756 (13.5%) subjects were rated as current smokers (mean cigarettes smoked per day: 13.88±8.37, for a mean of 29.21±14.04 years). Statistically significant correlation was found in several variants of AMD predisposing candidate genes identifying 2 extended haplotypes. Statistically significant genetic correlation between CFH and the values of circulating levels of C3 complement component was present. Conclusion: SardiNIA population seems to be characterized by a peculiar background, presumably associated to genetic and lifestyle aspects, protecting against AMD development.

Purpose: To ascertain the prevalence of age-related macular degeneration (AMD) in a Sardinian genetic isolate (Ogliastra). Methods: Volunteers aged over 50 years old were randomly selected from SardiNIA cohort. Detailed questionnaires were administered to volunteers in order to obtain demographic information and lifestyle choices including smoke and physical activity. A color fundus (CF) photograph of the 30  central retina of each eye was obtained by all participants and then graded according to the Age-Related Eye Disease Study (AREDS) system. A blood sample was collected from each study subject to assess the genetic features of the AMD predisposing candidate genes and to estimate the concentration of inflammation biochemical parameters AMD related. Results:1628 CF images of 814 subjects (380 males and 434 females) aged >50 years old (mean age: 66.55 11.77 years) were randomly included in the study. 116 eyes of 58 subjects were excluded from the analysis, having ungradable CF photographs bilaterally. The remaining 756 subjects, with CF photographs gradable for AMD, were 346 males and 410 females (mean age: 65.05 11.75 years). In 690/756 (91.27%) cases no signs of AMD were detected whereas the prevalence rates of early and late AMD were 6.88% and 0.662%, respectively.643/756 (85.05%) subjects were physically active and only 102/756 (13.5%) subjects were rated as current smokers (mean cigarettes smoked per day: 13.88 8.37, for a mean of 29.21 14.04 years). Statistically significant correlation was found in several variants of AMD predisposing candidate genes identifying 2 extended haplotypes. Statistically significant genetic correlation between CFHand the values of circulating levels of C3 complement component was present. Conclusion:SardiNIA population seems to be characterized by a peculiar background, presumably associated to genetic and lifestyle aspects, protecting against AMD development.

Age-related macular degeneration analysis from SardiNIA Project / Serra, Rita. - (2022 Mar 02).

Age-related macular degeneration analysis from SardiNIA Project

SERRA, Rita
2022-03-02

Abstract

Purpose: To ascertain the prevalence of age-related macular degeneration (AMD) in a Sardinian genetic isolate (Ogliastra). Methods: Volunteers aged ≥50 years, were randomly selected from SardiNIA project cohort. Detailed questionnaires were administered to volunteers in order to obtain demographic information and lifestyle choices including smoke and physical activity. A color fundus (CF) photograph of the 30° central retina of each eye was obtained by all participants and then graded according to the Age-Related Eye Disease Study (AREDS) system. A blood sample was collected from each study subject to assess the genetic features of the AMD predisposing candidate genes and to estimate the concentration of inflammation biochemical parameters AMD related. Results:1628 CF images of 814 subjects (380 males and 434 females; mean age: 66.55±11.77 years) were randomly included in the study. 116 eyes of 58 subjects were excluded from the analysis, having ungradable CF photographs bilaterally. The remaining 756 subjects, with CF photographs gradable for AMD, were 346 males and 410 females (mean age: 65.05±11.75 years). In 690/756 (91.27%) cases no signs of AMD were detected whereas the prevalence rates of early and late AMD were 6.88% and 0.662%, respectively.643/756 (85.05%) subjects were physically active and only 102/756 (13.5%) subjects were rated as current smokers (mean cigarettes smoked per day: 13.88±8.37, for a mean of 29.21±14.04 years). Statistically significant correlation was found in several variants of AMD predisposing candidate genes identifying 2 extended haplotypes. Statistically significant genetic correlation between CFH and the values of circulating levels of C3 complement component was present. Conclusion: SardiNIA population seems to be characterized by a peculiar background, presumably associated to genetic and lifestyle aspects, protecting against AMD development.
2-mar-2022
Purpose: To ascertain the prevalence of age-related macular degeneration (AMD) in a Sardinian genetic isolate (Ogliastra). Methods: Volunteers aged over 50 years old were randomly selected from SardiNIA cohort. Detailed questionnaires were administered to volunteers in order to obtain demographic information and lifestyle choices including smoke and physical activity. A color fundus (CF) photograph of the 30  central retina of each eye was obtained by all participants and then graded according to the Age-Related Eye Disease Study (AREDS) system. A blood sample was collected from each study subject to assess the genetic features of the AMD predisposing candidate genes and to estimate the concentration of inflammation biochemical parameters AMD related. Results:1628 CF images of 814 subjects (380 males and 434 females) aged >50 years old (mean age: 66.55 11.77 years) were randomly included in the study. 116 eyes of 58 subjects were excluded from the analysis, having ungradable CF photographs bilaterally. The remaining 756 subjects, with CF photographs gradable for AMD, were 346 males and 410 females (mean age: 65.05 11.75 years). In 690/756 (91.27%) cases no signs of AMD were detected whereas the prevalence rates of early and late AMD were 6.88% and 0.662%, respectively.643/756 (85.05%) subjects were physically active and only 102/756 (13.5%) subjects were rated as current smokers (mean cigarettes smoked per day: 13.88 8.37, for a mean of 29.21 14.04 years). Statistically significant correlation was found in several variants of AMD predisposing candidate genes identifying 2 extended haplotypes. Statistically significant genetic correlation between CFHand the values of circulating levels of C3 complement component was present. Conclusion:SardiNIA population seems to be characterized by a peculiar background, presumably associated to genetic and lifestyle aspects, protecting against AMD development.
Sardinia; genetic variants; AMD; environment; genetic risk
genetic risk
Age-related macular degeneration analysis from SardiNIA Project / Serra, Rita. - (2022 Mar 02).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/277394
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