Molecularly defined adult-type hypolactasia among working age people with reference to milk consumption and gastrointestinal symptoms.

AIM: To study milk consumption and subjective milk-related symptoms in adults genotyped for adult-type hypolactasia. METHODS: A total of 1900 Finnish adults were genotyped for the C/T(-13910) variant of adult-type hypolactasia and filled in a structured questionnaire concerning milk consumption and gastrointestinal problems. RESULTS: The C/C(-13910) genotype of adult-type hypolactasia was present in 18% of the study population. The prevalence of the C/C(-13910) genotype was higher among subjects who were undergoing investigations because of abdominal symptoms (24%, P < 0.05). Those with the C/C(-13910) genotype drank less milk than subjects with either the C/T(-13910) or the T/T(-13910) genotype of lactase persistence (18% vs 38%; 18% vs 36%, P < 0.01). Subjects with the C/C(-13910) genotype had experienced more gastrointestinal symptoms (84%) during the preceding three-month period than those with the C/T(-13910) (79%, P < 0.05) or the T/T(-13910) genotype (78 %, P < 0.05). Only 9% (29/338) of the subjects with the C/C(-13910) genotype consumed milk and reported no symptoms from it. CONCLUSION: Gastrointestinal symptoms are more common among adults with the C/C(-13910) genotype of adult-type hypolactasia than in those with genotypes of lactase persistence.

Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.

PURPOSE: A strong association of a Tyr402His polymorphism in the complement factor H (CFH) gene and a Met299Val polymorphism in the elongation of very long chain fatty acids-like 4 (ELOVL4) gene with age-related macular degeneration (AMD) has been identified in Caucasian populations in the United States. Earlier a Gln5345Arg variant in the hemicentin 1 (HMCN1) gene was reported in a large AMD family in the United States. We wanted to investigate whether the polymorphisms of the CFH and the ELOVL4 genes or the mutation of the HMCN1 gene are associated with AMD in patients originating from the Finnish population with characteristics of a genetic isolate. METHODS: The material consisted of familial (n=181) and sporadic cases (n=154) with AMD, a control group with no AMD (non-AMD controls, n=105), and a control group of anonymous blood donors (blood donor controls, n =350). The DNA of the subjects was sequenced to analyze the variants of the three genes. RESULTS: We detected a strong association between the C/C-genotype compared to the T/T-genotype of Tyr402His polymorphism (first base of the Tyr-codon changes) of the CFH gene and AMD in the AMD cases compared to the non-AMD (p=8.86x10(-12)) or to blood donor controls (p=2.02x10(-13)). The frequency of the C/C genotype was significantly increased in both familial cases compared to non-AMD controls with non-adjusted odds ratio (OR) 10.1 (confidence intervals [CI] 95% 4.64-22.2) or compared to blood donor controls with non-adjusted OR 5.50 (CI 95% 3.17-9.55) and in sporadic cases with non-adjusted OR 9.33 (CI 95% 4.10-21.3; non-AMD-controls), OR 5.06 (CI 95% 2.75-9.28; blood donor controls). Frequency of C allele differed significantly between cases and controls (p=1.32x10(-11); non-AMD-controls and p=3.94x10(-14); blood donor controls). No association with AMD was detected with Met299Val polymorphism in the ELOVL4 gene in the familial or sporadic cases compared to non-AMD or blood donor controls. None of our subjects (258 AMD cases, 72 non-AMD controls) had the Gln5345Arg variant in the HMCN1 gene. CONCLUSIONS: The CFH gene polymorphism seems to be an important etiologic factor for AMD also in the isolated Finnish population.