Individual variation in milk fatty acid (FA) composition has been partially attributed to stearoyl‐CoA desaturase 1 (SCD1) gene polymorphisms in taurine breeds, but much less is known for Zebu breeds. This study investigated the phenotypic variation in milk FA composition, and the influence of SCD1 variants on this trait and on milk fat desaturase indices (DI) in Gir cows. The functional impact of SCD1 variants was predicted using bioinformatics tools. Milk and blood samples were collected from 312 cows distributed in 10 herds from five states of Brazil. SCD1 variants were identified through target sequencing, and milk FA composition was determined by gas chromatography. Phenotypic variation in milk FA composition fell within the range reported for taurine breeds, with SCD18 index showing the lowest variation among the DI. Fourteen SCD1 variants were identified, six of which not previously described. Regarding the A293V polymorphism, all cows were homozygous for the C allele (coding for alanine), whereas all genotypes were detected for the second SNP affecting the 293 codon (G > A), with compelling evidence for functional effects. Significant associations (based on raw p‐values) were found between this SNP and C12:0, cis‐9, trans‐11 CLA and short‐chain FA, and between another SNP (rs523411937) and C15:0 and odd‐chain linear FA. A new SNP on Chr26:21277069 was associated with trans‐11 C18:1, cis‐9, trans‐11 CLA, C18:3 n‐3 and n‐3 FA. These findings indicate that SCD1 polymorphisms also contributes to the phenotypic variation in milk FA composition of Gir cows, with potential use in their breeding programmes.
O câncer epitelial de ovário e o câncer de endométrio apresentam uma alta taxa de mortalidade entre mulheres de todas as idades. Tanto na avaliação diagnóstica quanto de risco para essas neoplasias malignas deve-se considerar a possibilidade de uma etiologia hereditária, a qual pode ser identificável através de testes genéticos. O câncer de ovário de origem epitelial é um dos cânceres com maior relação com a hereditariedade, até 25% dos casos apresentam mutações germinativas identificáveis. Síndromes e/ou genes de alto risco para o câncer ginecológico como a Síndrome de predisposição ao câncer de mama e ovários associadas aos genes BRCA1/2, síndrome de Lynch aos genes MMR, Síndrome de Cowden ao gene PTEN, devem ser reconhecidas e podem ter impacto relevante para guiar condutas cirúrgicas e oncológicas. Entretanto, a abordagem faz-se através do processo do aconselhamento genético que é um processo dinâmico e que pode ser decisivo na avaliação do paciente oncológico e familiares em risco para câncer.
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