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. 2020 Mar 12;77(17):3311–3323. doi: 10.1007/s00018-020-03487-x

Table 6.

Genetic associations tested between SLC6A14 variants and diseases

rs ID (alleles) MAF Variant localization Association with Number of patients/cohort characteristics Ref
rs2312054 (A/T) 0.21 SLC6A14 intron Food intake 344 children, age 7–8 years [70]
rs12391221 (C/A) 0.30 SLC6A14 intron Food intake 344 children, age 7–8 years [70]
rs2071877 (C/T) 0.30 SLC6A14 intron Obesity 1267 obese adults and 649 lean controls (French) [71]
Adiposity 344 children, age 7–8 years [70]
rs2011162 (C/G) 0.45 SLC6A14 exon 14; 3′UTR Obesity Two independent cohorts: 117 obese and 182 controls (Finnish); 837 obese and 968 controls (Finnish and Swedish) [72]
Obesity 1267 obese adults and 649 lean controls (French) [71]
Reduced fat oxidation in women 722 obese subjects of white European origin (541 women, 181 men), age 20–25 years [73]
Male infertility 370 infertile men and 241 fertile controls (Macedonian and Slovenian) [74]

rs2312054(A)/

rs2071877(C)/

rs2011162(G) haplotype

Male infertility 370 infertile men and 241 fertile controls (Macedonian and Slovenian) [74]

Chromosomic position (forward strand); Alleles (Minor), Minor allele Frequency (MAF), data were collected from Ensembl, 1000 Genomes, European population