TLDR Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
In the 2019 study by Batarfi et al., researchers analyzed the association between MC4R gene variants rs12970134 and rs17782313 and polycystic ovary syndrome (PCOS) in 189 women from the Western region of Saudi Arabia, including 95 PCOS cases and 94 controls. They discovered that while these variants were significantly linked to higher body mass index (BMI) in PCOS patients, they were not directly associated with PCOS. The risk alleles A for rs12970134 and C for rs17782313 were associated with a higher BMI in obese PCOS patients. Other genotypes of these variants were related to symptoms like hirsutism, hair loss, hyperandrogenism, and anti-Müllerian hormone levels in non-obese PCOS patients. The study concluded that these MC4R single nucleotide polymorphisms are correlated with elevated BMI in PCOS patients but do not cause PCOS, and that different genotypes are associated with clinical symptoms in non-obese PCOS patients.
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Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
