Next-generation sequencing profiling of mitochondrial genomes in gout

Table 2 Positively associated alleles of MT-CO3 identified from SKAT analysis

Gene	Position	Mutation	Amino acid change	HF (%)	Impact^a	Published disease association
MT-CO3	9438	G➔A	G78S	42.05	**	LHON [26]
MT-CO3	9490	C➔T	A95V	99.23	**
MT-CO3	9755	G➔C	E183D	99.59	*
MT-CO3	9856	T➔C	I217T	99.71	**	LVNC [27]
MT-CO3 ^b	9957	T➔C	F251 L	99.35 59.92	**	MELAS/NAION [28,29,30]

Abbreviations: SKAT Sequence Kernel Association Test, HF heteroplasmic fraction, LHON Leber’s hereditary optic neuropathy, LVNC left ventricular non-compaction cardiomyopathy, MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, NAION non-arteritic ischemic optic neuropathy
^aFunctional impact assessed by the combination of Polymorphism Phenotyping (Polyphen), Sorting Intolerant From Tolerant (SIFT), and Predict the Pathology of Mutation (PMUT) as described in “Methods”
^bTwo patients with gout had m.9957 T > C alleles

ISSN: 1478-6362